Incidental Mutation 'R2570:Pcdha4'
| ID |
476504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha4
|
| Ensembl Gene |
ENSMUSG00000104252 |
| Gene Name |
protocadherin alpha 4 |
| Synonyms |
Crnr1, Cnr1 |
| MMRRC Submission |
040428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R2570 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37085742-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37086665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 283
(T283S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
| 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: ENSMUST00000115661
AA Change: T283S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
AA Change: T283S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
AA Change: T283S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
AA Change: T283S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
3.78e-2 |
SMART |
|
CA
|
152 |
237 |
8.94e-22 |
SMART |
|
CA
|
261 |
345 |
3.74e-24 |
SMART |
|
CA
|
369 |
450 |
1.09e-25 |
SMART |
|
CA
|
474 |
560 |
1.42e-24 |
SMART |
|
CA
|
588 |
670 |
2.96e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
AA Change: T283S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
AA Change: T283S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,768,267 (GRCm39) |
N763I |
probably damaging |
Het |
| Actr8 |
T |
C |
14: 29,709,239 (GRCm39) |
V281A |
probably damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,811 (GRCm39) |
N411K |
probably damaging |
Het |
| Adamdec1 |
T |
A |
14: 68,816,657 (GRCm39) |
Q77L |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,085,878 (GRCm39) |
F59Y |
possibly damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,192,163 (GRCm39) |
N178S |
probably benign |
Het |
| Aldh1a7 |
T |
A |
19: 20,677,320 (GRCm39) |
T434S |
probably benign |
Het |
| Bcl10 |
T |
A |
3: 145,638,785 (GRCm39) |
N142K |
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,402 (GRCm39) |
I231M |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,496,649 (GRCm39) |
L2307* |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,977,742 (GRCm39) |
R1518Q |
possibly damaging |
Het |
| Cdk12 |
T |
G |
11: 98,094,618 (GRCm39) |
M142R |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
C |
T |
13: 113,455,121 (GRCm39) |
T389I |
probably benign |
Het |
| Cyp2c50 |
C |
G |
19: 40,078,764 (GRCm39) |
H90D |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,138,847 (GRCm39) |
M480T |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,734,795 (GRCm39) |
F57L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,443,029 (GRCm39) |
F355L |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,609 (GRCm39) |
R339G |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,624,490 (GRCm39) |
S840R |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,023 (GRCm39) |
Y35N |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,705,753 (GRCm39) |
V811A |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,061,045 (GRCm39) |
V1114E |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,924,740 (GRCm39) |
R28L |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,605 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Itgal |
T |
C |
7: 126,913,268 (GRCm39) |
F622L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,130,865 (GRCm39) |
E451K |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,601,648 (GRCm39) |
F256I |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,951,354 (GRCm39) |
D1033V |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,982,043 (GRCm39) |
D1757E |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,659,358 (GRCm39) |
Y212H |
probably damaging |
Het |
| Lsm10 |
T |
C |
4: 125,991,716 (GRCm39) |
L24P |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,761 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Mtfp1 |
T |
C |
11: 4,044,504 (GRCm39) |
E27G |
probably damaging |
Het |
| Ncaph2 |
C |
A |
15: 89,254,678 (GRCm39) |
D399E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,105,864 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
C |
12: 85,379,320 (GRCm39) |
Y195* |
probably null |
Het |
| Npas1 |
T |
C |
7: 16,208,628 (GRCm39) |
D83G |
probably damaging |
Het |
| Nrsn2 |
A |
T |
2: 152,211,741 (GRCm39) |
F97I |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,503 (GRCm39) |
N10S |
probably benign |
Het |
| Or2ag12 |
A |
G |
7: 106,276,874 (GRCm39) |
I273T |
probably benign |
Het |
| Or55b10 |
T |
C |
7: 102,143,106 (GRCm39) |
N292S |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,305 (GRCm39) |
L292Q |
probably damaging |
Het |
| Pdk1 |
A |
C |
2: 71,703,904 (GRCm39) |
D64A |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,694,443 (GRCm39) |
T147A |
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,739,539 (GRCm39) |
A631T |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,988,870 (GRCm39) |
A660E |
possibly damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,336,787 (GRCm39) |
V55E |
possibly damaging |
Het |
| Shank2 |
A |
T |
7: 143,622,507 (GRCm39) |
I214F |
probably damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,433 (GRCm39) |
N186S |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,879,121 (GRCm39) |
|
noncoding transcript |
Het |
| Stradb |
C |
T |
1: 59,027,743 (GRCm39) |
T91I |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,721 (GRCm39) |
I359V |
probably benign |
Het |
| Tbl3 |
A |
T |
17: 24,922,290 (GRCm39) |
M405K |
possibly damaging |
Het |
| Tecta |
G |
T |
9: 42,243,848 (GRCm39) |
D2001E |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
T |
A |
13: 56,786,521 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
T |
19: 10,837,106 (GRCm39) |
L612Q |
probably null |
Het |
| Tnf |
T |
C |
17: 35,419,476 (GRCm39) |
N102S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,185,156 (GRCm39) |
V31D |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,140 (GRCm39) |
F248L |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,036,744 (GRCm39) |
V408A |
probably benign |
Het |
| Vmn1r159 |
T |
C |
7: 22,542,307 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,585 (GRCm39) |
L413H |
probably damaging |
Het |
| Zbtb2 |
T |
G |
10: 4,318,673 (GRCm39) |
N451T |
probably damaging |
Het |
| Zfp593 |
C |
A |
4: 133,972,869 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pcdha4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3114:Pcdha4
|
UTSW |
18 |
37,086,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3115:Pcdha4
|
UTSW |
18 |
37,086,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4154:Pcdha4
|
UTSW |
18 |
37,086,639 (GRCm39) |
splice site |
probably null |
|
|
R4381:Pcdha4
|
UTSW |
18 |
37,085,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4389:Pcdha4
|
UTSW |
18 |
37,087,842 (GRCm39) |
missense |
probably benign |
|
|
R4493:Pcdha4
|
UTSW |
18 |
37,087,644 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4801:Pcdha4
|
UTSW |
18 |
37,087,008 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Pcdha4
|
UTSW |
18 |
37,087,008 (GRCm39) |
nonsense |
probably null |
|
|
R4827:Pcdha4
|
UTSW |
18 |
37,086,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Pcdha4
|
UTSW |
18 |
37,087,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5001:Pcdha4
|
UTSW |
18 |
37,088,001 (GRCm39) |
missense |
probably benign |
|
|
R5330:Pcdha4
|
UTSW |
18 |
37,087,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5331:Pcdha4
|
UTSW |
18 |
37,087,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5540:Pcdha4
|
UTSW |
18 |
37,087,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5587:Pcdha4
|
UTSW |
18 |
37,087,875 (GRCm39) |
missense |
probably benign |
|
|
R5931:Pcdha4
|
UTSW |
18 |
37,087,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Pcdha4
|
UTSW |
18 |
37,086,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6427:Pcdha4
|
UTSW |
18 |
37,086,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6612:Pcdha4
|
UTSW |
18 |
37,088,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6616:Pcdha4
|
UTSW |
18 |
37,086,953 (GRCm39) |
missense |
probably benign |
|
|
R7030:Pcdha4
|
UTSW |
18 |
37,087,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Pcdha4
|
UTSW |
18 |
37,086,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7411:Pcdha4
|
UTSW |
18 |
37,086,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7491:Pcdha4
|
UTSW |
18 |
37,087,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Pcdha4
|
UTSW |
18 |
37,086,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Pcdha4
|
UTSW |
18 |
37,086,776 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7735:Pcdha4
|
UTSW |
18 |
37,085,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Pcdha4
|
UTSW |
18 |
37,086,354 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8104:Pcdha4
|
UTSW |
18 |
37,087,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Pcdha4
|
UTSW |
18 |
37,086,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8767:Pcdha4
|
UTSW |
18 |
37,086,905 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8802:Pcdha4
|
UTSW |
18 |
37,087,211 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8869:Pcdha4
|
UTSW |
18 |
37,086,011 (GRCm39) |
nonsense |
probably null |
|
|
R9102:Pcdha4
|
UTSW |
18 |
37,087,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Pcdha4
|
UTSW |
18 |
37,087,112 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9593:Pcdha4
|
UTSW |
18 |
37,086,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation