Incidental Mutation 'R6597:Pcdhga7'
ID | 524999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga7
|
Ensembl Gene |
ENSMUSG00000103472 |
Gene Name | protocadherin gamma subfamily A, 7 |
Synonyms | |
MMRRC Submission |
|
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.175)
|
Stock # | R6597 (G1)
|
Quality Score | 225.009 |
Status |
Validated
|
Chromosome | 18 |
Chromosomal Location | 37714764-37841873 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 37717006 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Proline
at position 689
(S689P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193476]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000195363]
|
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: S689P
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000141704 Gene: ENSMUSG00000103472 AA Change: S689P
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: S689P
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142126 Gene: ENSMUSG00000103472 AA Change: S689P
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 |
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: ENSMUST00000193984
|
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: 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: ENSMUST00000194544
|
SMART Domains |
Protein: ENSMUSP00000141847 Gene: ENSMUSG00000102836
Domain | Start | End | E-Value | Type |
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195069
|
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: 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: 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 |
|
Meta Mutation Damage Score |
0.0898
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (50/50) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730559C18Rik |
G |
T |
1: 136,226,189 |
A87E |
probably damaging |
Het |
A2m |
A |
G |
6: 121,648,121 |
Y486C |
probably damaging |
Het |
Asb17 |
A |
T |
3: 153,844,684 |
T118S |
probably damaging |
Het |
Atl2 |
T |
A |
17: 79,852,766 |
D293V |
possibly damaging |
Het |
Bbs1 |
T |
A |
19: 4,899,306 |
M242L |
probably benign |
Het |
Btg1 |
T |
A |
10: 96,618,320 |
S65T |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,999,040 |
D1101G |
possibly damaging |
Het |
Cmpk2 |
G |
T |
12: 26,474,145 |
V314L |
possibly damaging |
Het |
Fbxl8 |
A |
C |
8: 105,268,891 |
D345A |
probably benign |
Het |
Gys2 |
T |
A |
6: 142,456,309 |
H268L |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,316,818 |
R117* |
probably null |
Het |
Hoxd10 |
G |
A |
2: 74,692,640 |
A221T |
probably benign |
Het |
Hspa13 |
A |
T |
16: 75,765,197 |
L38Q |
probably damaging |
Het |
Ipo11 |
A |
G |
13: 106,865,863 |
|
probably null |
Het |
Itgb8 |
A |
G |
12: 119,173,398 |
V390A |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 34,182,747 |
I1370F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,382,692 |
N6086S |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,192,939 |
T14A |
probably benign |
Het |
Olfr1164 |
A |
G |
2: 88,093,069 |
F289S |
probably damaging |
Het |
Olfr1500 |
T |
A |
19: 13,828,457 |
|
probably benign |
Het |
Olfr204 |
C |
T |
16: 59,315,350 |
R19H |
probably benign |
Het |
Olfr545 |
A |
T |
7: 102,494,421 |
I118N |
probably damaging |
Het |
Olfr742 |
T |
A |
14: 50,515,551 |
C116S |
probably benign |
Het |
Olfr911-ps1 |
A |
T |
9: 38,524,004 |
I91F |
probably benign |
Het |
Patl2 |
T |
A |
2: 122,186,164 |
|
probably benign |
Het |
Pitpnc1 |
G |
T |
11: 107,226,232 |
Y227* |
probably null |
Het |
Pla2g2e |
T |
C |
4: 138,880,673 |
V22A |
unknown |
Het |
Ppil1 |
C |
A |
17: 29,261,878 |
V24F |
probably benign |
Het |
Prl3b1 |
G |
A |
13: 27,247,974 |
|
probably null |
Het |
Rabgef1 |
G |
A |
5: 130,191,044 |
|
probably null |
Het |
Rhot2 |
A |
T |
17: 25,840,912 |
W341R |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,750,184 |
W286R |
probably benign |
Het |
Rrs1 |
A |
G |
1: 9,546,376 |
T285A |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,442,973 |
D338V |
possibly damaging |
Het |
Siglech |
A |
T |
7: 55,768,463 |
M60L |
probably benign |
Het |
Slc12a6 |
G |
T |
2: 112,352,935 |
V756F |
probably damaging |
Het |
Slc43a2 |
G |
A |
11: 75,571,855 |
G507D |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,049,129 |
S789P |
probably benign |
Het |
Spata31d1d |
C |
A |
13: 59,726,057 |
M1221I |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,792,371 |
N899D |
probably benign |
Het |
Stag1 |
G |
A |
9: 100,887,420 |
M529I |
probably benign |
Het |
Tekt3 |
A |
G |
11: 63,081,259 |
D247G |
probably benign |
Het |
Tmppe |
A |
T |
9: 114,405,244 |
M204L |
probably benign |
Het |
Tpsg1 |
G |
A |
17: 25,369,297 |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,797,971 |
V6288A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,893,100 |
|
probably benign |
Het |
Twsg1 |
C |
A |
17: 65,937,804 |
V73F |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,694,188 |
T672A |
probably damaging |
Het |
Vps36 |
A |
G |
8: 22,202,304 |
I66V |
probably benign |
Het |
Xrcc4 |
A |
T |
13: 90,000,929 |
D157E |
probably benign |
Het |
Zbbx |
T |
A |
3: 75,136,454 |
Q162L |
probably damaging |
Het |
Zfp560 |
T |
A |
9: 20,348,001 |
I522L |
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,585,746 |
N984S |
probably damaging |
Het |
|
Other mutations in Pcdhga7 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAAGCCAGTGAGCCAGG -3'
(R):5'- CTACAAAGTGTGAGGCAGGC -3'
Sequencing Primer
(F):5'- TTCTCAGTAGGGCTACACACTGG -3'
(R):5'- AGTGTGAGGCAGGCACATCTTC -3'
|
Posted On | 2018-06-22 |