Incidental Mutation 'R4212:Pcdha7'
| ID |
319279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha7
|
| Ensembl Gene |
ENSMUSG00000104318 |
| Gene Name |
protocadherin alpha 7 |
| Synonyms |
Crnr4, Cnr4 |
| MMRRC Submission |
041641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37106864-37320716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37108027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 351
(T351A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193839]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000193389]
[ENSMUST00000195590]
[ENSMUST00000193777]
|
| 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: T351A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: T351A
| 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: 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: 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: 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: 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: 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: 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: ENSMUST00000193984
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
T |
15: 60,791,585 (GRCm39) |
L284M |
possibly damaging |
Het |
| Adamts15 |
A |
G |
9: 30,817,470 (GRCm39) |
V536A |
probably damaging |
Het |
| Arsi |
A |
T |
18: 61,049,773 (GRCm39) |
I219F |
probably damaging |
Het |
| Atg7 |
G |
A |
6: 114,680,386 (GRCm39) |
G447E |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,196,093 (GRCm39) |
H1223L |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,461,921 (GRCm39) |
M87T |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,791 (GRCm39) |
D415G |
probably benign |
Het |
| Chrnb2 |
A |
T |
3: 89,668,851 (GRCm39) |
C155S |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,569 (GRCm39) |
Q443L |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,823 (GRCm39) |
D857E |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,777,064 (GRCm39) |
D1124G |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,302,273 (GRCm39) |
A440T |
probably benign |
Het |
| Gc |
T |
C |
5: 89,583,434 (GRCm39) |
K370E |
probably benign |
Het |
| Gm11559 |
A |
G |
11: 99,755,726 (GRCm39) |
Q125R |
unknown |
Het |
| Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2e |
A |
G |
11: 69,118,949 (GRCm39) |
F681S |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,137,953 (GRCm39) |
I760V |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,106,603 (GRCm39) |
G219D |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,990 (GRCm39) |
D923G |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,552,357 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,742,884 (GRCm39) |
|
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Lats2 |
C |
T |
14: 57,933,712 (GRCm39) |
D802N |
possibly damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,606 (GRCm39) |
T632S |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,813,349 (GRCm39) |
R2183* |
probably null |
Het |
| Myorg |
T |
C |
4: 41,498,307 (GRCm39) |
E441G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,563,383 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,360,624 (GRCm39) |
V1434E |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,754,110 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,346 (GRCm39) |
Y218* |
probably null |
Het |
| Or5b102 |
T |
G |
19: 13,041,123 (GRCm39) |
M116R |
probably damaging |
Het |
| Or5k1 |
T |
A |
16: 58,617,732 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pard3 |
T |
A |
8: 128,336,939 (GRCm39) |
I1143K |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,974,089 (GRCm39) |
G318V |
unknown |
Het |
| Plch1 |
T |
A |
3: 63,778,180 (GRCm39) |
|
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,046 (GRCm39) |
I79T |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Psmd12 |
T |
C |
11: 107,376,585 (GRCm39) |
C74R |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,529,805 (GRCm39) |
G269E |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,786,115 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,854,954 (GRCm39) |
V147A |
possibly damaging |
Het |
| Sema3b |
C |
T |
9: 107,480,597 (GRCm39) |
V117M |
probably damaging |
Het |
| Sfxn5 |
A |
T |
6: 85,309,288 (GRCm39) |
L139* |
probably null |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,854,388 (GRCm39) |
T82I |
possibly damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,544 (GRCm39) |
D511G |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,682,632 (GRCm39) |
K314E |
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 |
|
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 |
|
R5333:Pcdha7
|
UTSW |
18 |
37,107,619 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- TCCAAGTTCCACATGGACACTG -3'
(R):5'- CAATCACATCATAGTTAGCGATGG -3'
Sequencing Primer
(F):5'- CACTGTGAGTGGAGAGATTACAG -3'
(R):5'- ACATCATAGTTAGCGATGGTCTCTCG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation