Incidental Mutation 'R4540:Pcdha1'
ID |
333515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha1
|
Ensembl Gene |
ENSMUSG00000103442 |
Gene Name |
protocadherin alpha 1 |
Synonyms |
|
MMRRC Submission |
041776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4540 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 37064680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 448
(D448A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
AlphaFold |
Q91Y21 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070797
AA Change: D448A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442 AA Change: D448A
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 |
noncoding transcript
Transcript: ENSMUST00000192440
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193839
AA Change: D448A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142308 Gene: ENSMUSG00000103442 AA Change: D448A
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 |
|
Meta Mutation Damage Score |
0.9024 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
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 |
Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably 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 |
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 |
R6907:Pcdha1
|
UTSW |
18 |
37,064,124 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ATCGACTCAGGTGTCAACGG -3'
(R):5'- GTGCACAGACACATAGCTCG -3'
Sequencing Primer
(F):5'- AGGTGACCTGCTCCCTAAC -3'
(R):5'- GCTGACACCGTGAAGAT -3'
|
Posted On |
2015-08-18 |