Incidental Mutation 'R9700:Pcdha5'
ID |
729539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha5
|
Ensembl Gene |
ENSMUSG00000103092 |
Gene Name |
protocadherin alpha 5 |
Synonyms |
Cnr6, Crnr6 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.199)
|
Stock # |
R9700 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37093493-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37094447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 319
(N319D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142293
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
AA Change: N319D
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092 AA Change: N319D
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.2e-2 |
SMART |
CA
|
155 |
240 |
2.05e-21 |
SMART |
CA
|
264 |
348 |
8.81e-21 |
SMART |
CA
|
372 |
453 |
2.01e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
591 |
673 |
1.63e-15 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
SMART Domains |
Protein: ENSMUSP00000142103 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
CA
|
42 |
128 |
3.78e-2 |
SMART |
CA
|
152 |
237 |
8.94e-22 |
SMART |
CA
|
261 |
345 |
3.74e-24 |
SMART |
CA
|
369 |
450 |
1.09e-25 |
SMART |
CA
|
474 |
560 |
1.42e-24 |
SMART |
CA
|
588 |
670 |
2.96e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
SMART Domains |
Protein: ENSMUSP00000141408 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
SMART Domains |
Protein: ENSMUSP00000142308 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,311,442 (GRCm39) |
S1233F |
probably benign |
Het |
Aldh1a2 |
G |
T |
9: 71,123,228 (GRCm39) |
E34* |
probably null |
Het |
Arhgap39 |
T |
C |
15: 76,611,617 (GRCm39) |
T856A |
probably damaging |
Het |
Arpin |
A |
G |
7: 79,578,015 (GRCm39) |
V138A |
probably damaging |
Het |
Art3 |
T |
G |
5: 92,562,120 (GRCm39) |
S373A |
unknown |
Het |
AU018091 |
A |
T |
7: 3,208,165 (GRCm39) |
I514N |
probably benign |
Het |
BC034090 |
C |
T |
1: 155,101,982 (GRCm39) |
R94H |
probably damaging |
Het |
C2cd6 |
T |
G |
1: 59,117,089 (GRCm39) |
M135L |
probably benign |
Het |
Cdc42ep2 |
T |
C |
19: 5,968,097 (GRCm39) |
M203V |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,268,359 (GRCm39) |
Y803H |
probably damaging |
Het |
Dcaf1 |
C |
T |
9: 106,735,524 (GRCm39) |
T824I |
probably benign |
Het |
Ddr1 |
A |
T |
17: 35,993,288 (GRCm39) |
D906E |
probably damaging |
Het |
Dhx8 |
G |
A |
11: 101,624,015 (GRCm39) |
|
probably null |
Het |
Dpysl5 |
C |
T |
5: 30,904,417 (GRCm39) |
Q88* |
probably null |
Het |
Ercc6l2 |
A |
G |
13: 63,967,525 (GRCm39) |
T42A |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,748,179 (GRCm39) |
K495E |
possibly damaging |
Het |
Hr |
T |
C |
14: 70,804,616 (GRCm39) |
V928A |
probably benign |
Het |
Ints14 |
C |
T |
9: 64,880,007 (GRCm39) |
R174* |
probably null |
Het |
Jam3 |
T |
C |
9: 27,010,183 (GRCm39) |
Y267C |
probably damaging |
Het |
Lpin3 |
A |
T |
2: 160,740,565 (GRCm39) |
N370I |
probably benign |
Het |
Mad2l1 |
C |
A |
6: 66,512,955 (GRCm39) |
N29K |
probably damaging |
Het |
Myt1 |
A |
G |
2: 181,452,177 (GRCm39) |
K838R |
probably damaging |
Het |
Ninj2 |
T |
C |
6: 120,174,873 (GRCm39) |
S15P |
probably benign |
Het |
Or14a256 |
A |
T |
7: 86,265,618 (GRCm39) |
N78K |
probably benign |
Het |
Or1j14 |
T |
A |
2: 36,418,313 (GRCm39) |
D296E |
probably benign |
Het |
Or6b9 |
A |
G |
7: 106,555,630 (GRCm39) |
V171A |
probably benign |
Het |
Or9a2 |
T |
A |
6: 41,749,076 (GRCm39) |
K52N |
probably benign |
Het |
Osgin2 |
A |
G |
4: 16,006,455 (GRCm39) |
S80P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,567,696 (GRCm39) |
K14E |
probably benign |
Het |
Pip5k1b |
T |
C |
19: 24,281,460 (GRCm39) |
Y518C |
probably benign |
Het |
Polh |
A |
T |
17: 46,510,414 (GRCm39) |
M14K |
probably damaging |
Het |
Prtg |
A |
G |
9: 72,762,313 (GRCm39) |
D480G |
probably benign |
Het |
Ptprk |
T |
C |
10: 28,456,495 (GRCm39) |
V1099A |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,779,044 (GRCm39) |
F539L |
probably damaging |
Het |
Rac3 |
A |
T |
11: 120,613,399 (GRCm39) |
T58S |
probably damaging |
Het |
Setd1a |
A |
T |
7: 127,385,752 (GRCm39) |
I820F |
possibly damaging |
Het |
Six2 |
A |
G |
17: 85,994,867 (GRCm39) |
F172L |
probably damaging |
Het |
Spic |
T |
A |
10: 88,515,757 (GRCm39) |
I22F |
probably benign |
Het |
Tex30 |
T |
C |
1: 44,130,374 (GRCm39) |
|
probably null |
Het |
Tgfbi |
T |
C |
13: 56,778,411 (GRCm39) |
I394T |
probably benign |
Het |
Tnc |
A |
G |
4: 63,933,186 (GRCm39) |
F693L |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,119,388 (GRCm39) |
V189E |
probably damaging |
Het |
Vegfa |
G |
A |
17: 46,342,713 (GRCm39) |
P35L |
probably damaging |
Het |
Zan |
T |
C |
5: 137,454,836 (GRCm39) |
H1400R |
unknown |
Het |
Zfp36l2 |
A |
G |
17: 84,494,184 (GRCm39) |
I151T |
possibly damaging |
Het |
Zfp809 |
T |
C |
9: 22,154,470 (GRCm39) |
C396R |
unknown |
Het |
Zfp93 |
G |
A |
7: 23,974,894 (GRCm39) |
G293D |
probably damaging |
Het |
|
Other mutations in Pcdha5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
tarantula
|
UTSW |
18 |
37,094,474 (GRCm39) |
missense |
probably benign |
0.00 |
R2483:Pcdha5
|
UTSW |
18 |
37,094,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R2483:Pcdha5
|
UTSW |
18 |
37,094,542 (GRCm39) |
missense |
probably benign |
|
R2888:Pcdha5
|
UTSW |
18 |
37,094,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R2907:Pcdha5
|
UTSW |
18 |
37,093,868 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2981:Pcdha5
|
UTSW |
18 |
37,094,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R4468:Pcdha5
|
UTSW |
18 |
37,095,233 (GRCm39) |
missense |
probably benign |
0.08 |
R4724:Pcdha5
|
UTSW |
18 |
37,094,549 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5280:Pcdha5
|
UTSW |
18 |
37,094,755 (GRCm39) |
nonsense |
probably null |
|
R5412:Pcdha5
|
UTSW |
18 |
37,095,510 (GRCm39) |
missense |
probably benign |
0.29 |
R5731:Pcdha5
|
UTSW |
18 |
37,093,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R5783:Pcdha5
|
UTSW |
18 |
37,095,534 (GRCm39) |
missense |
probably benign |
0.00 |
R5865:Pcdha5
|
UTSW |
18 |
37,094,474 (GRCm39) |
missense |
probably benign |
0.00 |
R5984:Pcdha5
|
UTSW |
18 |
37,094,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6498:Pcdha5
|
UTSW |
18 |
37,095,768 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6719:Pcdha5
|
UTSW |
18 |
37,093,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7084:Pcdha5
|
UTSW |
18 |
37,094,615 (GRCm39) |
missense |
probably benign |
0.08 |
R7113:Pcdha5
|
UTSW |
18 |
37,094,757 (GRCm39) |
missense |
probably benign |
|
R7432:Pcdha5
|
UTSW |
18 |
37,095,379 (GRCm39) |
missense |
probably benign |
0.07 |
R7507:Pcdha5
|
UTSW |
18 |
37,093,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7515:Pcdha5
|
UTSW |
18 |
37,095,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R7642:Pcdha5
|
UTSW |
18 |
37,093,544 (GRCm39) |
missense |
probably benign |
0.00 |
R7815:Pcdha5
|
UTSW |
18 |
37,094,556 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8129:Pcdha5
|
UTSW |
18 |
37,094,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R8132:Pcdha5
|
UTSW |
18 |
37,093,694 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8139:Pcdha5
|
UTSW |
18 |
37,095,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8469:Pcdha5
|
UTSW |
18 |
37,094,798 (GRCm39) |
missense |
probably benign |
0.02 |
R9533:Pcdha5
|
UTSW |
18 |
37,093,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAACTCAATGCTTCAGATGCG -3'
(R):5'- ACCAGCTTGAAGGGGATGTG -3'
Sequencing Primer
(F):5'- CTCAATGCTTCAGATGCGGATGAG -3'
(R):5'- TGTCAAGGAGCAGGTCACC -3'
|
Posted On |
2022-10-06 |