Incidental Mutation 'R5673:Pcdha1'
| ID |
442744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
043175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37063726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 130
(N130T)
|
| 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: N130T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: N130T
| 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: N130T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: N130T
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,877,886 (GRCm39) |
M94K |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,306,681 (GRCm39) |
Y103H |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,691,555 (GRCm39) |
C580R |
probably damaging |
Het |
| Aqp5 |
G |
A |
15: 99,492,046 (GRCm39) |
V98I |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,331,581 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,787 (GRCm39) |
N566S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,143,636 (GRCm39) |
D2992N |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,646,027 (GRCm39) |
T140A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,658 (GRCm39) |
I181V |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,962,499 (GRCm39) |
L133P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,539,622 (GRCm39) |
L1297F |
unknown |
Het |
| Crot |
T |
C |
5: 9,038,131 (GRCm39) |
N132S |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,812 (GRCm39) |
Q3169L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 31,022,235 (GRCm39) |
M3945K |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,415 (GRCm39) |
K216E |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,047,602 (GRCm39) |
S94C |
possibly damaging |
Het |
| Gm14226 |
T |
A |
2: 154,866,842 (GRCm39) |
S266R |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,916,466 (GRCm39) |
F276L |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,093,006 (GRCm39) |
Y148C |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,625 (GRCm39) |
S583P |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,754,035 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,930,580 (GRCm39) |
I224N |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,962,812 (GRCm39) |
K161E |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,121 (GRCm39) |
F201L |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,314,381 (GRCm39) |
L686Q |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,335,751 (GRCm39) |
V421I |
probably benign |
Het |
| Nadk |
G |
A |
4: 155,669,642 (GRCm39) |
V143I |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,878,594 (GRCm39) |
T272S |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,623,258 (GRCm39) |
C94S |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,509,698 (GRCm39) |
V682E |
probably damaging |
Het |
| Pacs2 |
G |
A |
12: 113,032,618 (GRCm39) |
V655M |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,229,491 (GRCm39) |
Q846* |
probably null |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,105 (GRCm39) |
S566P |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,472,022 (GRCm39) |
V483G |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,206 (GRCm39) |
R149G |
probably damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,692,444 (GRCm39) |
S1007P |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,905 (GRCm39) |
F317L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,389 (GRCm39) |
K32219R |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,630 (GRCm39) |
T11S |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,596,615 (GRCm39) |
L147I |
probably benign |
Het |
| Vmn2r77 |
C |
T |
7: 86,461,214 (GRCm39) |
H847Y |
probably benign |
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 |
|
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'- TATTCAGGGTGGCGTCCAAG -3'
(R):5'- CAGTTCAAGCGAAAGGGATTTACTG -3'
Sequencing Primer
(F):5'- GTGGCGTCCAAGGATCG -3'
(R):5'- TCAAGCGAAAGGGATTTACTGAGTTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation