Incidental Mutation 'R2497:Pcdha3'
| ID |
476433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha3
|
| Ensembl Gene |
ENSMUSG00000102312 |
| Gene Name |
protocadherin alpha 3 |
| Synonyms |
|
| MMRRC Submission |
040411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R2497 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37079158-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37080556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 433
(C433R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115662]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y16 |
| 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: 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: ENSMUST00000192503
AA Change: C433R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
AA Change: C433R
| 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: 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,612 (GRCm38) |
V295A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,258,268 (GRCm39) |
E959G |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arhgap39 |
C |
A |
15: 76,609,585 (GRCm39) |
V1025L |
probably damaging |
Het |
| Atg4d |
C |
T |
9: 21,184,682 (GRCm39) |
R459* |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,909,294 (GRCm39) |
S1163G |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,157,889 (GRCm39) |
S173* |
probably null |
Het |
| Atp6v1g2 |
T |
A |
17: 35,455,762 (GRCm39) |
I8N |
probably damaging |
Het |
| Ccdc77 |
C |
T |
6: 120,302,433 (GRCm39) |
G430R |
possibly damaging |
Het |
| Cdc34b |
A |
G |
11: 94,633,207 (GRCm39) |
T136A |
probably benign |
Het |
| Cdkal1 |
A |
G |
13: 29,658,524 (GRCm39) |
S23P |
unknown |
Het |
| Cdkl2 |
T |
A |
5: 92,156,857 (GRCm39) |
H566L |
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,901,790 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,421,432 (GRCm39) |
V98A |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,466,140 (GRCm39) |
T557A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,513 (GRCm39) |
T192A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
G |
11: 117,977,850 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,960,339 (GRCm39) |
Q2239* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,656,376 (GRCm39) |
V1572A |
probably benign |
Het |
| Elfn2 |
C |
G |
15: 78,558,464 (GRCm39) |
E28Q |
probably damaging |
Het |
| Enam |
T |
A |
5: 88,650,553 (GRCm39) |
N687K |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,974,685 (GRCm39) |
R652W |
probably benign |
Het |
| Gm5612 |
T |
C |
9: 18,338,975 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Mmp3 |
A |
G |
9: 7,450,131 (GRCm39) |
T288A |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,491,649 (GRCm39) |
F168L |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,263 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
T |
A |
11: 80,565,647 (GRCm39) |
N393Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,979,580 (GRCm39) |
Y285* |
probably null |
Het |
| Nf1 |
G |
T |
11: 79,334,710 (GRCm39) |
G844V |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,084 (GRCm39) |
Y113* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,142,142 (GRCm39) |
I358V |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,211,700 (GRCm39) |
D819V |
possibly damaging |
Het |
| Phf3 |
C |
A |
1: 30,869,095 (GRCm39) |
R651L |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,834 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
| Rab27a |
T |
C |
9: 72,992,263 (GRCm39) |
L97P |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,652,676 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
T |
C |
5: 92,447,958 (GRCm39) |
N259S |
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,620 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,617,534 (GRCm39) |
N300I |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,888,078 (GRCm39) |
I875V |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,096,919 (GRCm39) |
N174S |
probably damaging |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,564,319 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
C |
T |
5: 120,677,063 (GRCm39) |
|
probably null |
Het |
| Unc45b |
A |
T |
11: 82,827,269 (GRCm39) |
I699F |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,124,664 (GRCm39) |
P27L |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,043,535 (GRCm39) |
P91R |
probably damaging |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,278 (GRCm39) |
T132M |
probably damaging |
Het |
| Zfp148 |
T |
C |
16: 33,316,755 (GRCm39) |
Y434H |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,551 (GRCm39) |
V640A |
possibly damaging |
Het |
|
| Other mutations in Pcdha3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3702:Pcdha3
|
UTSW |
18 |
37,080,401 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4090:Pcdha3
|
UTSW |
18 |
37,081,504 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4273:Pcdha3
|
UTSW |
18 |
37,081,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Pcdha3
|
UTSW |
18 |
37,080,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Pcdha3
|
UTSW |
18 |
37,081,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4582:Pcdha3
|
UTSW |
18 |
37,080,485 (GRCm39) |
missense |
probably benign |
|
|
R4712:Pcdha3
|
UTSW |
18 |
37,079,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Pcdha3
|
UTSW |
18 |
37,079,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Pcdha3
|
UTSW |
18 |
37,081,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5361:Pcdha3
|
UTSW |
18 |
37,079,752 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5535:Pcdha3
|
UTSW |
18 |
37,080,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5682:Pcdha3
|
UTSW |
18 |
37,081,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6656:Pcdha3
|
UTSW |
18 |
37,080,875 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6878:Pcdha3
|
UTSW |
18 |
37,080,416 (GRCm39) |
nonsense |
probably null |
|
|
R7150:Pcdha3
|
UTSW |
18 |
37,080,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7167:Pcdha3
|
UTSW |
18 |
37,080,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Pcdha3
|
UTSW |
18 |
37,079,977 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7301:Pcdha3
|
UTSW |
18 |
37,079,977 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7448:Pcdha3
|
UTSW |
18 |
37,079,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7467:Pcdha3
|
UTSW |
18 |
37,080,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Pcdha3
|
UTSW |
18 |
37,080,784 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7659:Pcdha3
|
UTSW |
18 |
37,081,219 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7761:Pcdha3
|
UTSW |
18 |
37,079,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Pcdha3
|
UTSW |
18 |
37,081,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7939:Pcdha3
|
UTSW |
18 |
37,080,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Pcdha3
|
UTSW |
18 |
37,079,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8440:Pcdha3
|
UTSW |
18 |
37,080,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Pcdha3
|
UTSW |
18 |
37,080,154 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9375:Pcdha3
|
UTSW |
18 |
37,079,353 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9378:Pcdha3
|
UTSW |
18 |
37,080,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Pcdha3
|
UTSW |
18 |
37,079,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation