Incidental Mutation 'R3012:Pcdhga7'
| ID |
477403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga7
|
| Ensembl Gene |
ENSMUSG00000103472 |
| Gene Name |
protocadherin gamma subfamily A, 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R3012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37847887-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37848691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 233
(T233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000193869]
[ENSMUST00000195823]
[ENSMUST00000194418]
[ENSMUST00000194190]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
|
| AlphaFold |
Q6DD96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
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: ENSMUST00000192511
AA Change: T233A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
AA Change: T233A
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193476
AA Change: T233A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472
AA Change: T233A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
CA
|
47 |
133 |
7.6e-5 |
SMART |
|
CA
|
157 |
242 |
1.6e-21 |
SMART |
|
CA
|
266 |
347 |
1.6e-25 |
SMART |
|
CA
|
371 |
452 |
4.5e-25 |
SMART |
|
CA
|
476 |
562 |
6.6e-27 |
SMART |
|
CA
|
593 |
671 |
1.7e-17 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
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: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
| Atg10 |
A |
T |
13: 91,302,397 (GRCm39) |
F47Y |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,412,926 (GRCm39) |
E45G |
probably benign |
Het |
| Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
| Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,493,965 (GRCm39) |
S323P |
probably benign |
Het |
| Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
| Ttc27 |
A |
T |
17: 75,147,454 (GRCm39) |
I669F |
probably benign |
Het |
| Tubb3 |
T |
G |
8: 124,147,975 (GRCm39) |
C303G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,168,187 (GRCm39) |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
probably damaging |
Het |
|
| Other mutations in Pcdhga7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
micro
|
UTSW |
18 |
37,850,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
milli
|
UTSW |
18 |
37,849,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3950:Pcdhga7
|
UTSW |
18 |
37,849,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Pcdhga7
|
UTSW |
18 |
37,850,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Pcdhga7
|
UTSW |
18 |
37,848,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5073:Pcdhga7
|
UTSW |
18 |
37,849,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Pcdhga7
|
UTSW |
18 |
37,850,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5424:Pcdhga7
|
UTSW |
18 |
37,848,388 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5534:Pcdhga7
|
UTSW |
18 |
37,849,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Pcdhga7
|
UTSW |
18 |
37,848,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Pcdhga7
|
UTSW |
18 |
37,849,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Pcdhga7
|
UTSW |
18 |
37,849,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Pcdhga7
|
UTSW |
18 |
37,849,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6597:Pcdhga7
|
UTSW |
18 |
37,850,059 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6684:Pcdhga7
|
UTSW |
18 |
37,849,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Pcdhga7
|
UTSW |
18 |
37,850,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6810:Pcdhga7
|
UTSW |
18 |
37,848,926 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6920:Pcdhga7
|
UTSW |
18 |
37,848,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6922:Pcdhga7
|
UTSW |
18 |
37,848,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7051:Pcdhga7
|
UTSW |
18 |
37,849,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Pcdhga7
|
UTSW |
18 |
37,850,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7265:Pcdhga7
|
UTSW |
18 |
37,849,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Pcdhga7
|
UTSW |
18 |
37,850,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7450:Pcdhga7
|
UTSW |
18 |
37,849,079 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7451:Pcdhga7
|
UTSW |
18 |
37,849,057 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7790:Pcdhga7
|
UTSW |
18 |
37,847,996 (GRCm39) |
start codon destroyed |
probably null |
0.85 |
|
R7833:Pcdhga7
|
UTSW |
18 |
37,849,077 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7922:Pcdhga7
|
UTSW |
18 |
37,849,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Pcdhga7
|
UTSW |
18 |
37,849,562 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8007:Pcdhga7
|
UTSW |
18 |
37,849,946 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8073:Pcdhga7
|
UTSW |
18 |
37,848,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Pcdhga7
|
UTSW |
18 |
37,848,146 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8962:Pcdhga7
|
UTSW |
18 |
37,848,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9191:Pcdhga7
|
UTSW |
18 |
37,848,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9684:Pcdhga7
|
UTSW |
18 |
37,848,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation