Incidental Mutation 'R5333:Pcdha7'
| ID |
423379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha7
|
| Ensembl Gene |
ENSMUSG00000104318 |
| Gene Name |
protocadherin alpha 7 |
| Synonyms |
Crnr4, Cnr4 |
| MMRRC Submission |
042915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37106864-37320716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37107619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 215
(T215S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000195590]
[ENSMUST00000193389]
[ENSMUST00000194751]
[ENSMUST00000194544]
[ENSMUST00000193777]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y13 |
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| 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: ENSMUST00000192168
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.2e-2 |
SMART |
|
CA
|
155 |
240 |
2.05e-21 |
SMART |
|
CA
|
264 |
348 |
8.81e-21 |
SMART |
|
CA
|
372 |
453 |
2.01e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
591 |
673 |
1.63e-15 |
SMART |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
| 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: ENSMUST00000192631
AA Change: T215S
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: T215S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.58e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
1.42e-24 |
SMART |
|
CA
|
372 |
453 |
9.36e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
671 |
4.03e-6 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
| SMART Domains |
Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
| SMART Domains |
Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
low complexity region
|
914 |
938 |
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 |
probably benign
Transcript: ENSMUST00000193984
|
| Meta Mutation Damage Score |
0.2645 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (56/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abca14 |
T |
A |
7: 119,888,769 (GRCm39) |
Y1238* |
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,831,677 (GRCm39) |
V1225D |
probably damaging |
Het |
| Arhgef15 |
A |
G |
11: 68,838,022 (GRCm39) |
|
probably benign |
Het |
| As3mt |
A |
G |
19: 46,696,635 (GRCm39) |
R58G |
probably null |
Het |
| Asap1 |
T |
G |
15: 63,999,263 (GRCm39) |
N525T |
possibly damaging |
Het |
| Bhmt2 |
A |
G |
13: 93,807,938 (GRCm39) |
V50A |
probably benign |
Het |
| Bpnt2 |
A |
C |
4: 4,767,963 (GRCm39) |
V271G |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,890,935 (GRCm39) |
I36F |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,994,976 (GRCm39) |
S63P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,457 (GRCm39) |
E56G |
possibly damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,510,135 (GRCm39) |
Y541C |
probably benign |
Het |
| Cenph |
G |
T |
13: 100,898,280 (GRCm39) |
H208N |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,942,334 (GRCm39) |
L1740Q |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,521,197 (GRCm39) |
D623G |
probably damaging |
Het |
| Ckap4 |
C |
A |
10: 84,363,474 (GRCm39) |
V530L |
probably damaging |
Het |
| Cldn13 |
A |
T |
5: 134,943,869 (GRCm39) |
N105K |
probably benign |
Het |
| Ddn |
T |
C |
15: 98,703,237 (GRCm39) |
D685G |
possibly damaging |
Het |
| Fdxr |
T |
C |
11: 115,163,084 (GRCm39) |
I70V |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,663,339 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Iqcf3 |
A |
G |
9: 106,430,860 (GRCm39) |
I96T |
possibly damaging |
Het |
| Itgax |
A |
G |
7: 127,741,455 (GRCm39) |
Y822C |
probably damaging |
Het |
| Katnb1 |
A |
T |
8: 95,822,234 (GRCm39) |
I286L |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,355,572 (GRCm39) |
I424R |
probably benign |
Het |
| Lrpprc |
C |
A |
17: 85,097,821 (GRCm39) |
A41S |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,236,145 (GRCm39) |
L761P |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpp4 |
C |
A |
1: 59,196,600 (GRCm39) |
R44L |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,762 (GRCm39) |
Q86L |
possibly damaging |
Het |
| Nkain3 |
T |
A |
4: 20,484,889 (GRCm39) |
M63L |
probably benign |
Het |
| Nup88 |
A |
C |
11: 70,835,842 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,953,518 (GRCm39) |
C3837S |
probably damaging |
Het |
| Ogdh |
T |
G |
11: 6,302,126 (GRCm39) |
L850V |
probably damaging |
Het |
| Or4f17-ps1 |
A |
G |
2: 111,358,048 (GRCm39) |
I148V |
probably benign |
Het |
| Or5w11 |
A |
G |
2: 87,459,458 (GRCm39) |
Y217C |
probably damaging |
Het |
| Panx2 |
T |
C |
15: 88,952,742 (GRCm39) |
I411T |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,348,805 (GRCm39) |
M585K |
probably damaging |
Het |
| Pcbp2 |
T |
G |
15: 102,394,456 (GRCm39) |
L180R |
possibly damaging |
Het |
| Pcdhga4 |
C |
T |
18: 37,818,477 (GRCm39) |
R9C |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,970 (GRCm39) |
V687A |
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,024,682 (GRCm39) |
Y61N |
possibly damaging |
Het |
| Psma6 |
A |
G |
12: 55,454,213 (GRCm39) |
|
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,219,471 (GRCm39) |
S241T |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,700 (GRCm39) |
L35H |
probably damaging |
Het |
| Slc11a1 |
A |
C |
1: 74,423,304 (GRCm39) |
D385A |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,446,086 (GRCm39) |
C930S |
probably benign |
Het |
| Syt10 |
T |
A |
15: 89,725,932 (GRCm39) |
Q14L |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,909,205 (GRCm39) |
W1578G |
probably damaging |
Het |
| Triml1 |
C |
T |
8: 43,583,327 (GRCm39) |
A425T |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,471,549 (GRCm39) |
V777I |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,004 (GRCm39) |
I208V |
possibly damaging |
Het |
|
| Other mutations in Pcdha7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2511:Pcdha7
|
UTSW |
18 |
37,107,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Pcdha7
|
UTSW |
18 |
37,108,432 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4212:Pcdha7
|
UTSW |
18 |
37,108,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4533:Pcdha7
|
UTSW |
18 |
37,108,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4608:Pcdha7
|
UTSW |
18 |
37,108,870 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4766:Pcdha7
|
UTSW |
18 |
37,107,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4808:Pcdha7
|
UTSW |
18 |
37,107,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Pcdha7
|
UTSW |
18 |
37,108,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Pcdha7
|
UTSW |
18 |
37,108,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Pcdha7
|
UTSW |
18 |
37,107,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5342:Pcdha7
|
UTSW |
18 |
37,107,724 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5463:Pcdha7
|
UTSW |
18 |
37,108,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Pcdha7
|
UTSW |
18 |
37,108,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Pcdha7
|
UTSW |
18 |
37,108,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Pcdha7
|
UTSW |
18 |
37,109,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5887:Pcdha7
|
UTSW |
18 |
37,108,960 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6115:Pcdha7
|
UTSW |
18 |
37,107,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6496:Pcdha7
|
UTSW |
18 |
37,107,638 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6522:Pcdha7
|
UTSW |
18 |
37,106,995 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6653:Pcdha7
|
UTSW |
18 |
37,107,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6815:Pcdha7
|
UTSW |
18 |
37,108,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7313:Pcdha7
|
UTSW |
18 |
37,107,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Pcdha7
|
UTSW |
18 |
37,109,285 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7520:Pcdha7
|
UTSW |
18 |
37,108,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7857:Pcdha7
|
UTSW |
18 |
37,108,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7939:Pcdha7
|
UTSW |
18 |
37,109,063 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8229:Pcdha7
|
UTSW |
18 |
37,107,776 (GRCm39) |
nonsense |
probably null |
|
|
R9592:Pcdha7
|
UTSW |
18 |
37,109,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9711:Pcdha7
|
UTSW |
18 |
37,107,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pcdha7
|
UTSW |
18 |
37,108,893 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTCGCGGTTTCCACTAG -3'
(R):5'- AAATGAGTACATAACGTCCCCATTC -3'
Sequencing Primer
(F):5'- TTTCCACTAGAGGGCGCGTC -3'
(R):5'- TAACGTCCCCATTCACGCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation