Incidental Mutation 'BB001:Pard3'
ID |
642107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pard3
|
Ensembl Gene |
ENSMUSG00000025812 |
Gene Name |
par-3 family cell polarity regulator |
Synonyms |
Par3, Pard3a, ASIP, D8Ertd580e, PAR-3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
BB001
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128137231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 861
(N861S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000159537]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000160766]
[ENSMUST00000161355]
[ENSMUST00000162309]
[ENSMUST00000162456]
[ENSMUST00000162531]
[ENSMUST00000162536]
[ENSMUST00000162602]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026921
|
SMART Domains |
Protein: ENSMUSP00000026921 Gene: ENSMUSG00000025812
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1.1e-72 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
810 |
837 |
3e-10 |
PDB |
low complexity region
|
863 |
875 |
N/A |
INTRINSIC |
low complexity region
|
892 |
902 |
N/A |
INTRINSIC |
low complexity region
|
921 |
950 |
N/A |
INTRINSIC |
low complexity region
|
965 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1162 |
1200 |
N/A |
INTRINSIC |
low complexity region
|
1264 |
1281 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079777
AA Change: N726S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078710 Gene: ENSMUSG00000025812 AA Change: N726S
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159537
AA Change: N806S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124934 Gene: ENSMUSG00000025812 AA Change: N806S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
6.7e-73 |
PFAM |
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
low complexity region
|
717 |
727 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
756 |
783 |
2e-10 |
PDB |
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
low complexity region
|
852 |
862 |
N/A |
INTRINSIC |
low complexity region
|
881 |
910 |
N/A |
INTRINSIC |
low complexity region
|
925 |
943 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160272
AA Change: N861S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125453 Gene: ENSMUSG00000025812 AA Change: N861S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1.7e-60 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
low complexity region
|
878 |
890 |
N/A |
INTRINSIC |
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
low complexity region
|
936 |
965 |
N/A |
INTRINSIC |
low complexity region
|
980 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1177 |
1215 |
N/A |
INTRINSIC |
low complexity region
|
1279 |
1296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160581
AA Change: N824S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124141 Gene: ENSMUSG00000025812 AA Change: N824S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
4 |
149 |
7.1e-73 |
PFAM |
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
PDZ
|
285 |
364 |
2.34e-6 |
SMART |
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
PDZ
|
472 |
551 |
4.1e-20 |
SMART |
PDZ
|
589 |
674 |
9.87e-14 |
SMART |
low complexity region
|
764 |
774 |
N/A |
INTRINSIC |
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
low complexity region
|
870 |
880 |
N/A |
INTRINSIC |
low complexity region
|
899 |
928 |
N/A |
INTRINSIC |
low complexity region
|
943 |
983 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160766
AA Change: N774S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124533 Gene: ENSMUSG00000025812 AA Change: N774S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
low complexity region
|
791 |
803 |
N/A |
INTRINSIC |
low complexity region
|
820 |
830 |
N/A |
INTRINSIC |
low complexity region
|
849 |
878 |
N/A |
INTRINSIC |
low complexity region
|
893 |
933 |
N/A |
INTRINSIC |
low complexity region
|
1090 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1192 |
1209 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124789 Gene: ENSMUSG00000025812 AA Change: N781S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
3 |
122 |
9.6e-37 |
PFAM |
PDZ
|
214 |
293 |
2.34e-6 |
SMART |
low complexity region
|
363 |
372 |
N/A |
INTRINSIC |
PDZ
|
401 |
480 |
4.1e-20 |
SMART |
PDZ
|
518 |
603 |
9.87e-14 |
SMART |
low complexity region
|
693 |
703 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
732 |
759 |
2e-10 |
PDB |
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
low complexity region
|
828 |
838 |
N/A |
INTRINSIC |
low complexity region
|
857 |
886 |
N/A |
INTRINSIC |
low complexity region
|
901 |
919 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000123951 Gene: ENSMUSG00000025812 AA Change: N98S
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
48 |
75 |
4e-11 |
PDB |
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
low complexity region
|
145 |
155 |
N/A |
INTRINSIC |
low complexity region
|
174 |
203 |
N/A |
INTRINSIC |
low complexity region
|
218 |
258 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161355
AA Change: N830S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125064 Gene: ENSMUSG00000025812 AA Change: N830S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
7.2e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
low complexity region
|
847 |
859 |
N/A |
INTRINSIC |
low complexity region
|
876 |
886 |
N/A |
INTRINSIC |
low complexity region
|
905 |
934 |
N/A |
INTRINSIC |
low complexity region
|
949 |
989 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162309
AA Change: N860S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124282 Gene: ENSMUSG00000025812 AA Change: N860S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
6.2e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
low complexity region
|
906 |
916 |
N/A |
INTRINSIC |
low complexity region
|
935 |
964 |
N/A |
INTRINSIC |
low complexity region
|
979 |
1019 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1214 |
N/A |
INTRINSIC |
low complexity region
|
1278 |
1295 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162456
AA Change: N726S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124162 Gene: ENSMUSG00000025812 AA Change: N726S
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162531
AA Change: N821S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125610 Gene: ENSMUSG00000025812 AA Change: N821S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
8.4e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
586 |
671 |
9.87e-14 |
SMART |
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
low complexity region
|
838 |
850 |
N/A |
INTRINSIC |
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
low complexity region
|
896 |
925 |
N/A |
INTRINSIC |
low complexity region
|
940 |
980 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162536
AA Change: N816S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125212 Gene: ENSMUSG00000025812 AA Change: N816S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
PDZ
|
555 |
640 |
9.87e-14 |
SMART |
low complexity region
|
727 |
737 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
766 |
793 |
3e-10 |
PDB |
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
low complexity region
|
862 |
872 |
N/A |
INTRINSIC |
low complexity region
|
891 |
920 |
N/A |
INTRINSIC |
low complexity region
|
935 |
975 |
N/A |
INTRINSIC |
low complexity region
|
1132 |
1170 |
N/A |
INTRINSIC |
low complexity region
|
1234 |
1251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162602
AA Change: N864S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125450 Gene: ENSMUSG00000025812 AA Change: N864S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
1 |
146 |
7.6e-73 |
PFAM |
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
low complexity region
|
774 |
784 |
N/A |
INTRINSIC |
PDB:4DC2|Z
|
813 |
840 |
2e-10 |
PDB |
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
low complexity region
|
910 |
920 |
N/A |
INTRINSIC |
low complexity region
|
939 |
968 |
N/A |
INTRINSIC |
low complexity region
|
983 |
1023 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124718 Gene: ENSMUSG00000025812 AA Change: N850S
Domain | Start | End | E-Value | Type |
Pfam:DUF3534
|
21 |
166 |
1.4e-60 |
PFAM |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
PDZ
|
302 |
381 |
2.34e-6 |
SMART |
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
PDZ
|
489 |
568 |
4.1e-20 |
SMART |
PDZ
|
619 |
704 |
9.87e-14 |
SMART |
low complexity region
|
791 |
801 |
N/A |
INTRINSIC |
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
low complexity region
|
897 |
907 |
N/A |
INTRINSIC |
low complexity region
|
926 |
955 |
N/A |
INTRINSIC |
low complexity region
|
970 |
1010 |
N/A |
INTRINSIC |
low complexity region
|
1167 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1286 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,383,281 (GRCm39) |
K2155E |
possibly damaging |
Het |
Adgre5 |
G |
A |
8: 84,456,029 (GRCm39) |
P256S |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,731 (GRCm39) |
V172D |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,317,230 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,622,641 (GRCm39) |
I404V |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,658,602 (GRCm39) |
R2204Q |
probably damaging |
Het |
Barhl2 |
A |
G |
5: 106,605,515 (GRCm39) |
S65P |
unknown |
Het |
Bbx |
A |
T |
16: 50,044,671 (GRCm39) |
L630H |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,608 (GRCm39) |
T531A |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,486,824 (GRCm39) |
H450Q |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,296,091 (GRCm39) |
L135P |
probably damaging |
Het |
Cfap206 |
T |
A |
4: 34,728,833 (GRCm39) |
H24L |
probably benign |
Het |
Cilk1 |
T |
C |
9: 78,062,746 (GRCm39) |
L260P |
probably damaging |
Het |
Cnga4 |
T |
A |
7: 105,057,028 (GRCm39) |
V480E |
probably benign |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,038,570 (GRCm39) |
R1003G |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,258,590 (GRCm39) |
D1927G |
probably benign |
Het |
Dscc1 |
A |
T |
15: 54,945,572 (GRCm39) |
D374E |
probably benign |
Het |
Eci2 |
G |
A |
13: 35,177,053 (GRCm39) |
Q69* |
probably null |
Het |
Ep300 |
C |
A |
15: 81,533,703 (GRCm39) |
P1920Q |
unknown |
Het |
Epha5 |
A |
G |
5: 84,232,705 (GRCm39) |
Y629H |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,153,613 (GRCm39) |
T3533I |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,910,593 (GRCm39) |
N1803S |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,840 (GRCm39) |
Y51C |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gcnt2 |
A |
T |
13: 41,072,040 (GRCm39) |
K228* |
probably null |
Het |
Gucy2c |
A |
T |
6: 136,740,053 (GRCm39) |
V258E |
probably benign |
Het |
Hecw1 |
C |
A |
13: 14,497,113 (GRCm39) |
L298F |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,145,103 (GRCm39) |
V818G |
possibly damaging |
Het |
Hykk |
A |
G |
9: 54,829,524 (GRCm39) |
Y131C |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,685,666 (GRCm39) |
D48G |
probably damaging |
Het |
Mrps10 |
T |
C |
17: 47,689,208 (GRCm39) |
*202Q |
probably null |
Het |
Mrps14 |
T |
C |
1: 160,024,559 (GRCm39) |
V30A |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Muc2 |
G |
T |
7: 141,281,631 (GRCm39) |
G497W |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,523,181 (GRCm39) |
V237D |
probably damaging |
Het |
Nox4 |
G |
T |
7: 87,023,589 (GRCm39) |
V492L |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Or5ak23 |
T |
C |
2: 85,244,563 (GRCm39) |
Y220C |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,938 (GRCm39) |
I256T |
probably damaging |
Het |
Pdlim4 |
G |
A |
11: 53,946,048 (GRCm39) |
R230* |
probably null |
Het |
Pinlyp |
C |
T |
7: 24,241,550 (GRCm39) |
V159M |
possibly damaging |
Het |
Pla2g4d |
T |
C |
2: 120,119,645 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,201,613 (GRCm39) |
T855S |
probably benign |
Het |
Pot1a |
T |
A |
6: 25,753,309 (GRCm39) |
D409V |
possibly damaging |
Het |
Prom1 |
T |
C |
5: 44,187,111 (GRCm39) |
D382G |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,192,834 (GRCm39) |
N83K |
probably damaging |
Het |
Ptprn2 |
A |
G |
12: 116,804,884 (GRCm39) |
D133G |
probably benign |
Het |
Rasef |
C |
T |
4: 73,659,166 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
G |
5: 143,160,241 (GRCm39) |
S271P |
probably damaging |
Het |
Rbm20 |
A |
T |
19: 53,666,016 (GRCm39) |
I60F |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Serpinb3c |
A |
G |
1: 107,200,904 (GRCm39) |
L171P |
probably damaging |
Het |
Slc25a19 |
T |
C |
11: 115,506,376 (GRCm39) |
Y211C |
unknown |
Het |
Sorbs2 |
C |
T |
8: 46,248,507 (GRCm39) |
S586L |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,180,733 (GRCm39) |
S58R |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,026,762 (GRCm39) |
I329T |
probably benign |
Het |
St8sia2 |
G |
A |
7: 73,616,700 (GRCm39) |
L113F |
probably damaging |
Het |
Star |
T |
C |
8: 26,299,883 (GRCm39) |
I75T |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,644,331 (GRCm39) |
F129Y |
possibly damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,697 (GRCm39) |
I784F |
possibly damaging |
Het |
Tex55 |
G |
A |
16: 38,632,826 (GRCm39) |
Q369* |
probably null |
Het |
Tsc22d4 |
A |
G |
5: 137,766,273 (GRCm39) |
I144V |
unknown |
Het |
Tspan8 |
T |
C |
10: 115,669,229 (GRCm39) |
|
probably null |
Het |
Ttll9 |
C |
T |
2: 152,804,407 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,194,587 (GRCm39) |
L1160R |
unknown |
Het |
Ufd1 |
A |
G |
16: 18,642,035 (GRCm39) |
Y162C |
possibly damaging |
Het |
Unc13c |
A |
T |
9: 73,641,690 (GRCm39) |
F1268I |
probably benign |
Het |
Uvssa |
T |
C |
5: 33,568,295 (GRCm39) |
I561T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,254 (GRCm39) |
S817T |
probably damaging |
Het |
Ybx1 |
T |
C |
4: 119,139,476 (GRCm39) |
E173G |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,400 (GRCm39) |
S640P |
possibly damaging |
Het |
|
Other mutations in Pard3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00161:Pard3
|
APN |
8 |
128,086,299 (GRCm39) |
splice site |
probably benign |
|
IGL00484:Pard3
|
APN |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00674:Pard3
|
APN |
8 |
128,115,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01471:Pard3
|
APN |
8 |
128,104,727 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01505:Pard3
|
APN |
8 |
128,050,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Pard3
|
APN |
8 |
128,125,237 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02511:Pard3
|
APN |
8 |
127,888,070 (GRCm39) |
splice site |
probably benign |
|
IGL02838:Pard3
|
APN |
8 |
128,153,128 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02948:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02987:Pard3
|
APN |
8 |
128,115,972 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03037:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03084:Pard3
|
APN |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.96 |
BB011:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0029:Pard3
|
UTSW |
8 |
128,153,239 (GRCm39) |
splice site |
probably benign |
|
R0109:Pard3
|
UTSW |
8 |
128,125,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Pard3
|
UTSW |
8 |
128,103,378 (GRCm39) |
splice site |
probably benign |
|
R0415:Pard3
|
UTSW |
8 |
128,337,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R0507:Pard3
|
UTSW |
8 |
128,097,967 (GRCm39) |
splice site |
probably benign |
|
R1055:Pard3
|
UTSW |
8 |
128,104,761 (GRCm39) |
missense |
probably benign |
0.34 |
R1305:Pard3
|
UTSW |
8 |
128,032,891 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1619:Pard3
|
UTSW |
8 |
128,106,983 (GRCm39) |
missense |
probably benign |
0.02 |
R1855:Pard3
|
UTSW |
8 |
128,174,293 (GRCm39) |
splice site |
probably null |
|
R2001:Pard3
|
UTSW |
8 |
127,791,097 (GRCm39) |
splice site |
probably null |
|
R2060:Pard3
|
UTSW |
8 |
128,125,085 (GRCm39) |
missense |
probably benign |
0.05 |
R2064:Pard3
|
UTSW |
8 |
128,337,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Pard3
|
UTSW |
8 |
128,103,366 (GRCm39) |
critical splice donor site |
probably null |
|
R2224:Pard3
|
UTSW |
8 |
128,086,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Pard3
|
UTSW |
8 |
128,337,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R3870:Pard3
|
UTSW |
8 |
128,136,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R4154:Pard3
|
UTSW |
8 |
128,200,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:Pard3
|
UTSW |
8 |
128,336,939 (GRCm39) |
missense |
probably benign |
0.43 |
R4243:Pard3
|
UTSW |
8 |
128,098,128 (GRCm39) |
missense |
probably benign |
0.09 |
R4523:Pard3
|
UTSW |
8 |
128,125,108 (GRCm39) |
missense |
probably benign |
0.08 |
R4857:Pard3
|
UTSW |
8 |
128,050,535 (GRCm39) |
missense |
probably damaging |
0.98 |
R4876:Pard3
|
UTSW |
8 |
128,287,950 (GRCm39) |
intron |
probably benign |
|
R4877:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R5197:Pard3
|
UTSW |
8 |
127,800,040 (GRCm39) |
splice site |
probably null |
|
R5215:Pard3
|
UTSW |
8 |
128,104,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Pard3
|
UTSW |
8 |
128,186,867 (GRCm39) |
critical splice donor site |
probably null |
|
R5349:Pard3
|
UTSW |
8 |
128,142,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5479:Pard3
|
UTSW |
8 |
128,096,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Pard3
|
UTSW |
8 |
128,153,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Pard3
|
UTSW |
8 |
128,115,914 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5934:Pard3
|
UTSW |
8 |
128,115,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
R6187:Pard3
|
UTSW |
8 |
127,800,023 (GRCm39) |
missense |
probably benign |
0.00 |
R6382:Pard3
|
UTSW |
8 |
128,103,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Pard3
|
UTSW |
8 |
128,137,228 (GRCm39) |
missense |
probably damaging |
0.98 |
R7130:Pard3
|
UTSW |
8 |
128,142,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Pard3
|
UTSW |
8 |
128,098,056 (GRCm39) |
missense |
probably damaging |
0.97 |
R7358:Pard3
|
UTSW |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.98 |
R7528:Pard3
|
UTSW |
8 |
128,329,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R7537:Pard3
|
UTSW |
8 |
128,337,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7679:Pard3
|
UTSW |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
R7924:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
R8076:Pard3
|
UTSW |
8 |
128,142,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8258:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
R8259:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
R8345:Pard3
|
UTSW |
8 |
128,050,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R8421:Pard3
|
UTSW |
8 |
127,867,158 (GRCm39) |
intron |
probably benign |
|
R8500:Pard3
|
UTSW |
8 |
128,186,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Pard3
|
UTSW |
8 |
128,050,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8918:Pard3
|
UTSW |
8 |
128,098,011 (GRCm39) |
missense |
probably benign |
0.29 |
R9005:Pard3
|
UTSW |
8 |
128,003,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R9629:Pard3
|
UTSW |
8 |
128,136,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9643:Pard3
|
UTSW |
8 |
128,115,900 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAAATGACTGGCATACTGC -3'
(R):5'- CATCTGTCACACGTATTGCTG -3'
Sequencing Primer
(F):5'- ATGAAGATGCTGTTTATTCTTCTCC -3'
(R):5'- GTCACACGTATTGCTGATAAATTTC -3'
|
Posted On |
2020-08-01 |