Incidental Mutation 'R5925:Pcdha1'
| ID |
461811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
044120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37063724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 129
(D129E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070797
AA Change: D129E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: D129E
| 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: D129E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: D129E
| 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: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
C |
T |
5: 66,147,735 (GRCm39) |
W16* |
probably null |
Het |
| Abca8a |
T |
C |
11: 109,948,049 (GRCm39) |
D985G |
probably damaging |
Het |
| Afp |
T |
A |
5: 90,645,147 (GRCm39) |
C188S |
probably damaging |
Het |
| Ank2 |
A |
C |
3: 126,726,612 (GRCm39) |
L894R |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,289,344 (GRCm39) |
I60T |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,175,064 (GRCm39) |
V1733A |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,183,593 (GRCm39) |
S136P |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,703,227 (GRCm39) |
S393P |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,098,263 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,988 (GRCm39) |
V491A |
unknown |
Het |
| Dync2i1 |
A |
T |
12: 116,197,014 (GRCm39) |
F448I |
possibly damaging |
Het |
| Ehf |
T |
C |
2: 103,097,338 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
C |
T |
16: 20,326,874 (GRCm39) |
H99Y |
probably benign |
Het |
| Exosc10 |
C |
A |
4: 148,657,819 (GRCm39) |
T655K |
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,706 (GRCm39) |
I53F |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,920,462 (GRCm39) |
D628V |
possibly damaging |
Het |
| Lmo4 |
A |
T |
3: 143,900,252 (GRCm39) |
N83K |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,342,029 (GRCm39) |
T1881S |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,564,439 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,040,376 (GRCm39) |
S314P |
probably benign |
Het |
| Mpzl3 |
G |
T |
9: 44,973,412 (GRCm39) |
K50N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,948 (GRCm39) |
Q1992K |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,785,860 (GRCm39) |
N645K |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,106,482 (GRCm39) |
I49T |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,744 (GRCm39) |
D119G |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,187,475 (GRCm39) |
L2P |
unknown |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,906 (GRCm39) |
Y454H |
probably benign |
Het |
| Satb2 |
C |
T |
1: 56,836,097 (GRCm39) |
A565T |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,051 (GRCm39) |
L889Q |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,713 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
T |
C |
4: 155,696,084 (GRCm39) |
V157A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,946 (GRCm39) |
V291A |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,151 (GRCm39) |
D190G |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,943 (GRCm39) |
H170R |
probably benign |
Het |
| Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,726,974 (GRCm39) |
Q9* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,632,592 (GRCm39) |
C12408Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,639,355 (GRCm39) |
D13806G |
probably damaging |
Het |
| Unc79 |
G |
C |
12: 103,091,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,637 (GRCm39) |
S4P |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,450 (GRCm39) |
T576I |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,099 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,366,853 (GRCm39) |
H744R |
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 |
|
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'- AAACACGGCACCTTTGTGG -3'
(R):5'- CGAAAGGGATTTACTGAGTTCG -3'
Sequencing Primer
(F):5'- CTATTCAGGGTGGCGTCCAAG -3'
(R):5'- ACTGAGTTCGTCTGTTGTCTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation