Incidental Mutation 'R6907:Pcdha1'
| ID |
538843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37064124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 263
(T263A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
AA Change: T263A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: T263A
| 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: ENSMUST00000193839
AA Change: T263A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: T263A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly damaging |
Het |
|
| Other mutations in Pcdha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Pcdha1
|
APN |
18 |
37,065,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Pcdha1
|
UTSW |
18 |
37,139,681 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0108:Pcdha1
|
UTSW |
18 |
37,131,809 (GRCm39) |
missense |
probably benign |
|
|
R0543:Pcdha1
|
UTSW |
18 |
37,318,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Pcdha1
|
UTSW |
18 |
37,318,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Pcdha1
|
UTSW |
18 |
37,065,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2301:Pcdha1
|
UTSW |
18 |
37,289,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Pcdha1
|
UTSW |
18 |
37,064,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Pcdha1
|
UTSW |
18 |
37,064,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3693:Pcdha1
|
UTSW |
18 |
37,065,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3783:Pcdha1
|
UTSW |
18 |
37,063,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Pcdha1
|
UTSW |
18 |
37,064,454 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4012:Pcdha1
|
UTSW |
18 |
37,064,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4540:Pcdha1
|
UTSW |
18 |
37,064,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Pcdha1
|
UTSW |
18 |
37,064,959 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4678:Pcdha1
|
UTSW |
18 |
37,063,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4998:Pcdha1
|
UTSW |
18 |
37,065,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Pcdha1
|
UTSW |
18 |
37,065,312 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5518:Pcdha1
|
UTSW |
18 |
37,065,415 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5673:Pcdha1
|
UTSW |
18 |
37,063,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Pcdha1
|
UTSW |
18 |
37,063,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Pcdha1
|
UTSW |
18 |
37,063,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Pcdha1
|
UTSW |
18 |
37,064,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Pcdha1
|
UTSW |
18 |
37,065,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Pcdha1
|
UTSW |
18 |
37,065,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Pcdha1
|
UTSW |
18 |
37,064,509 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6503:Pcdha1
|
UTSW |
18 |
37,064,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Pcdha1
|
UTSW |
18 |
37,063,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pcdha1
|
UTSW |
18 |
37,292,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7314:Pcdha1
|
UTSW |
18 |
37,064,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Pcdha1
|
UTSW |
18 |
37,063,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7700:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7768:Pcdha1
|
UTSW |
18 |
37,065,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Pcdha1
|
UTSW |
18 |
37,065,511 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7800:Pcdha1
|
UTSW |
18 |
37,064,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pcdha1
|
UTSW |
18 |
37,065,254 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8325:Pcdha1
|
UTSW |
18 |
37,063,867 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8699:Pcdha1
|
UTSW |
18 |
37,064,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Pcdha1
|
UTSW |
18 |
37,064,760 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9513:Pcdha1
|
UTSW |
18 |
37,065,286 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9746:Pcdha1
|
UTSW |
18 |
37,065,713 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTTGAACTGAGAAAATCTTTGG -3'
(R):5'- GGGAGTCCCTTTATCAACTGCC -3'
Sequencing Primer
(F):5'- TCTTTGGATAGAGAAGAAACACCAG -3'
(R):5'- GTCCCTTTATCAACTGCCTTTATTTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation