Incidental Mutation 'R5466:Pcdha1'
| ID |
433261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
043027-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5466 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37065312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 659
(A659T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070797
AA Change: A659T
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: A659T
| 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 benign
Transcript: ENSMUST00000193839
AA Change: A659T
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: A659T
| 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: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| 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]
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
| Armc5 |
A |
G |
7: 127,839,336 (GRCm39) |
N218S |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
| Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,388,441 (GRCm39) |
Q406* |
probably null |
Het |
| Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
| Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,869,904 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
| Or4c117 |
A |
T |
2: 88,955,477 (GRCm39) |
F199L |
probably benign |
Het |
| Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
| Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
| Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,751,698 (GRCm39) |
S690P |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- GAACTGGTGTCACGGACAATGG -3'
(R):5'- CGCTGTGTACAGAAGCAAAG -3'
Sequencing Primer
(F):5'- ACTCTGGCTACAATGCGTG -3'
(R):5'- GTGAGCACTAACAGGCTGGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation