Incidental Mutation 'R7358:Pard3'
| ID |
571112 |
| 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 |
| MMRRC Submission |
045444-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7358 (G1)
|
| 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 T
at 128319573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1149
(I1149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000160272]
[ENSMUST00000160766]
[ENSMUST00000162309]
[ENSMUST00000162536]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026921
AA Change: I1134L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: I1134L
| 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 damaging
Transcript: ENSMUST00000160272
AA Change: I1149L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: I1149L
| 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 |
possibly damaging
Transcript: ENSMUST00000160766
AA Change: I1062L
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: I1062L
| 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 |
probably damaging
Transcript: ENSMUST00000162309
AA Change: I1148L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: I1148L
| 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 damaging
Transcript: ENSMUST00000162536
AA Change: I1104L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: I1104L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: I1138L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,510,529 (GRCm39) |
Q983L |
probably benign |
Het |
| Agtr1a |
A |
T |
13: 30,564,962 (GRCm39) |
D9V |
probably benign |
Het |
| Ahcyl |
T |
C |
16: 45,974,201 (GRCm39) |
E392G |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,697,374 (GRCm39) |
Y326* |
probably null |
Het |
| Ano2 |
A |
G |
6: 125,687,696 (GRCm39) |
D67G |
probably benign |
Het |
| Arhgef5 |
G |
A |
6: 43,256,507 (GRCm39) |
R1205H |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,590,448 (GRCm39) |
Y1055* |
probably null |
Het |
| Atad5 |
C |
T |
11: 80,023,862 (GRCm39) |
A1658V |
probably benign |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,926 (GRCm39) |
D252G |
probably damaging |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,800 (GRCm39) |
V347A |
possibly damaging |
Het |
| Ccdc187 |
A |
T |
2: 26,146,007 (GRCm39) |
L1194Q |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,710,115 (GRCm39) |
D770A |
unknown |
Het |
| Chd9 |
A |
G |
8: 91,760,846 (GRCm39) |
D2197G |
unknown |
Het |
| Clip2 |
C |
A |
5: 134,531,484 (GRCm39) |
E774* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,459,993 (GRCm39) |
T407A |
probably benign |
Het |
| Col24a1 |
T |
A |
3: 144,998,926 (GRCm39) |
|
probably null |
Het |
| Cradd |
T |
A |
10: 95,158,637 (GRCm39) |
T37S |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,456,501 (GRCm39) |
D849G |
|
Het |
| Ctbp2 |
A |
G |
7: 132,600,610 (GRCm39) |
F70S |
probably damaging |
Het |
| D3Ertd751e |
A |
T |
3: 41,701,000 (GRCm39) |
E6D |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,230,754 (GRCm39) |
F2782L |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,159,479 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
G |
T |
12: 78,927,969 (GRCm39) |
G215V |
probably damaging |
Het |
| Epg5 |
A |
T |
18: 78,002,252 (GRCm39) |
D557V |
possibly damaging |
Het |
| Eya4 |
C |
T |
10: 22,999,749 (GRCm39) |
|
probably null |
Het |
| Fpr1 |
C |
A |
17: 18,097,242 (GRCm39) |
R249L |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,339,788 (GRCm39) |
T1520A |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,580,473 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
C |
11: 76,104,278 (GRCm39) |
L161* |
probably null |
Het |
| Gid8 |
A |
T |
2: 180,359,779 (GRCm39) |
K221I |
probably benign |
Het |
| Gm21028 |
A |
C |
7: 42,227,913 (GRCm39) |
C34G |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,774,882 (GRCm39) |
S172P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,832,423 (GRCm39) |
I3040V |
possibly damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,306,824 (GRCm39) |
V3190E |
probably damaging |
Het |
| Hrnr |
G |
T |
3: 93,230,448 (GRCm39) |
G229* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,891,738 (GRCm39) |
V2259D |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,326,814 (GRCm39) |
F375S |
probably damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,903,478 (GRCm39) |
D357V |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,040 (GRCm39) |
R914G |
possibly damaging |
Het |
| Mars2 |
T |
C |
1: 55,276,729 (GRCm39) |
S111P |
probably damaging |
Het |
| Mogat2 |
G |
A |
7: 98,881,673 (GRCm39) |
P88S |
possibly damaging |
Het |
| Msh2 |
T |
A |
17: 88,024,957 (GRCm39) |
S612T |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or1j20 |
T |
C |
2: 36,759,890 (GRCm39) |
V104A |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,111 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or51v15-ps1 |
A |
G |
7: 103,278,390 (GRCm39) |
L259P |
unknown |
Het |
| Or5m11b |
T |
A |
2: 85,805,780 (GRCm39) |
S64R |
possibly damaging |
Het |
| Or6c202 |
T |
A |
10: 128,995,939 (GRCm39) |
I305F |
probably benign |
Het |
| Or7e174 |
A |
T |
9: 20,012,169 (GRCm39) |
Y38F |
probably damaging |
Het |
| P2rx7 |
A |
T |
5: 122,804,205 (GRCm39) |
|
probably null |
Het |
| Pcdha8 |
T |
A |
18: 37,125,830 (GRCm39) |
I104N |
probably damaging |
Het |
| Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
| Pgap2 |
A |
T |
7: 101,859,774 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
T |
C |
14: 30,963,745 (GRCm39) |
R76G |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,141,090 (GRCm39) |
T268A |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,641,289 (GRCm39) |
T231A |
possibly damaging |
Het |
| Pkd1l1 |
T |
G |
11: 8,895,202 (GRCm39) |
E636A |
|
Het |
| Plscr3 |
T |
C |
11: 69,738,316 (GRCm39) |
S55P |
unknown |
Het |
| Pnlip |
T |
A |
19: 58,664,976 (GRCm39) |
I268N |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,929 (GRCm39) |
H343Q |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,327,793 (GRCm39) |
T213A |
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,419 (GRCm39) |
Q119L |
probably benign |
Het |
| Psme3ip1 |
T |
C |
8: 95,302,327 (GRCm39) |
N235D |
possibly damaging |
Het |
| Ptprcap |
A |
G |
19: 4,206,238 (GRCm39) |
E107G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,198 (GRCm38) |
T640A |
possibly damaging |
Het |
| Ptprh |
A |
T |
7: 4,554,006 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
A |
G |
5: 136,124,448 (GRCm39) |
T166A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,998,555 (GRCm39) |
E626G |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,512,850 (GRCm39) |
Y203* |
probably null |
Het |
| Serpinb1a |
G |
C |
13: 33,026,981 (GRCm39) |
H320Q |
probably damaging |
Het |
| Shisa7 |
G |
A |
7: 4,832,920 (GRCm39) |
T464I |
probably benign |
Het |
| Slc47a2 |
G |
A |
11: 61,199,699 (GRCm39) |
A399V |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,063,746 (GRCm39) |
T642A |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,526 (GRCm39) |
H85R |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,127,847 (GRCm39) |
L1721S |
possibly damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
A |
5: 138,299,770 (GRCm39) |
L894M |
probably damaging |
Het |
| Sun2 |
A |
T |
15: 79,618,313 (GRCm39) |
F284Y |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,718,550 (GRCm39) |
N184K |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,968,334 (GRCm39) |
N477K |
probably damaging |
Het |
| Ttbk2 |
C |
T |
2: 120,620,791 (GRCm39) |
R157H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,537,649 (GRCm39) |
E34760K |
probably benign |
Het |
| Tysnd1 |
T |
C |
10: 61,532,427 (GRCm39) |
S360P |
probably damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,560 (GRCm39) |
V53A |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,311,683 (GRCm39) |
L511I |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,468 (GRCm39) |
T761S |
possibly damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,482 (GRCm39) |
C73* |
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 735,141 (GRCm39) |
E214G |
unknown |
Het |
| Zmym5 |
T |
A |
14: 57,031,597 (GRCm39) |
K504* |
probably null |
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 |
|
BB001:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- ACAAATGGCCATTTCAGATGC -3'
(R):5'- CAGAGGGATTTGGCTCCATC -3'
Sequencing Primer
(F):5'- GGCCATTTCAGATGCCCAGATTC -3'
(R):5'- GTCTTATTTCATAAAGGACTGAGGTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation