Incidental Mutation 'R4576:Pcdhga9'
| ID |
342506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga9
|
| Ensembl Gene |
ENSMUSG00000102440 |
| Gene Name |
protocadherin gamma subfamily A, 9 |
| Synonyms |
|
| MMRRC Submission |
041799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R4576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37869989-37974916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37870881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 237
(N237H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000193414]
[ENSMUST00000194418]
[ENSMUST00000195363]
[ENSMUST00000195823]
[ENSMUST00000192931]
[ENSMUST00000194544]
[ENSMUST00000195112]
|
| AlphaFold |
Q91XX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000091935
AA Change: N237H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
AA Change: N237H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
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
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| 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: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| 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: 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: 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: 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: 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 |
|
| 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.1738 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (84/86) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,623,979 (GRCm39) |
D160V |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,417,147 (GRCm39) |
D510G |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,973,158 (GRCm39) |
|
probably benign |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| C7 |
A |
G |
15: 5,032,238 (GRCm39) |
S658P |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,832,325 (GRCm39) |
V404A |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,879,090 (GRCm39) |
|
probably null |
Het |
| Chml |
G |
T |
1: 175,514,506 (GRCm39) |
Q129K |
probably damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Cirbp |
A |
G |
10: 80,006,075 (GRCm39) |
K84E |
probably damaging |
Het |
| Cln6 |
G |
T |
9: 62,746,231 (GRCm39) |
Q23H |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,673,297 (GRCm39) |
M801T |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,869,636 (GRCm39) |
M293L |
probably benign |
Het |
| Ddx11 |
A |
G |
17: 66,457,721 (GRCm39) |
K869E |
probably damaging |
Het |
| Ddx17 |
A |
T |
15: 79,425,347 (GRCm39) |
M108K |
probably benign |
Het |
| Dnaaf5 |
C |
A |
5: 139,171,394 (GRCm39) |
A557D |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,834,708 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Enah |
G |
A |
1: 181,747,128 (GRCm39) |
S298L |
possibly damaging |
Het |
| Exoc7 |
T |
C |
11: 116,180,009 (GRCm39) |
*685W |
probably null |
Het |
| Fgfbp1 |
C |
T |
5: 44,136,806 (GRCm39) |
R162H |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,478,860 (GRCm39) |
S439G |
unknown |
Het |
| Fzd9 |
A |
G |
5: 135,279,166 (GRCm39) |
S240P |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,720,064 (GRCm39) |
D442G |
probably damaging |
Het |
| Gm10804 |
C |
T |
2: 93,299,014 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl3 |
G |
T |
4: 135,288,562 (GRCm39) |
T41K |
probably damaging |
Het |
| H6pd |
A |
T |
4: 150,078,933 (GRCm39) |
D243E |
probably damaging |
Het |
| Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,221,622 (GRCm39) |
D812G |
possibly damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,610,238 (GRCm39) |
T1477K |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,857,863 (GRCm39) |
S261P |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,380,048 (GRCm39) |
D424V |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,140,757 (GRCm39) |
S658P |
probably damaging |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Llph-ps2 |
A |
G |
X: 13,084,690 (GRCm39) |
|
noncoding transcript |
Het |
| Lpxn |
T |
C |
19: 12,810,654 (GRCm39) |
I366T |
probably benign |
Het |
| Lrp1 |
ACAGGCGC |
AC |
10: 127,376,057 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,763,927 (GRCm39) |
Q346* |
probably null |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mlc1 |
G |
A |
15: 88,858,740 (GRCm39) |
T136M |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Pde4dip |
C |
A |
3: 97,661,565 (GRCm39) |
E657D |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,834,844 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
C |
T |
19: 6,936,415 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
G |
A |
6: 115,945,005 (GRCm39) |
A99V |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
| Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,393,308 (GRCm39) |
T389M |
probably benign |
Het |
| Pxdn |
A |
T |
12: 30,061,922 (GRCm39) |
T1165S |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,529 (GRCm39) |
D925G |
possibly damaging |
Het |
| Samhd1 |
A |
T |
2: 156,943,670 (GRCm39) |
C615S |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,321,131 (GRCm39) |
Y1320* |
probably null |
Het |
| Slco6b1 |
T |
A |
1: 96,916,422 (GRCm39) |
|
noncoding transcript |
Het |
| Slitrk6 |
C |
A |
14: 110,987,602 (GRCm39) |
V702F |
probably benign |
Het |
| Spata31d1b |
C |
A |
13: 59,864,675 (GRCm39) |
H608N |
probably damaging |
Het |
| Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,841 (GRCm39) |
|
probably benign |
Het |
| Tango2 |
A |
T |
16: 18,119,392 (GRCm39) |
D146E |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,713 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
A |
G |
5: 108,792,468 (GRCm39) |
D248G |
possibly damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,852,499 (GRCm39) |
Q521* |
probably null |
Het |
| Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
| Ttc16 |
A |
T |
2: 32,660,071 (GRCm39) |
F246I |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,968,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,696 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,168,579 (GRCm39) |
R896H |
unknown |
Het |
| Zfp941 |
T |
A |
7: 140,391,503 (GRCm39) |
K619* |
probably null |
Het |
| Zfp970 |
A |
T |
2: 177,167,473 (GRCm39) |
H349L |
probably damaging |
Het |
|
| Other mutations in Pcdhga9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4468001:Pcdhga9
|
UTSW |
18 |
37,872,527 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2870:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2871:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2871:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2872:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2872:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2873:Pcdhga9
|
UTSW |
18 |
37,870,524 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3727:Pcdhga9
|
UTSW |
18 |
37,871,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3918:Pcdhga9
|
UTSW |
18 |
37,871,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3939:Pcdhga9
|
UTSW |
18 |
37,871,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3940:Pcdhga9
|
UTSW |
18 |
37,871,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3946:Pcdhga9
|
UTSW |
18 |
37,870,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Pcdhga9
|
UTSW |
18 |
37,871,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Pcdhga9
|
UTSW |
18 |
37,871,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Pcdhga9
|
UTSW |
18 |
37,871,601 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4903:Pcdhga9
|
UTSW |
18 |
37,872,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Pcdhga9
|
UTSW |
18 |
37,871,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5042:Pcdhga9
|
UTSW |
18 |
37,870,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Pcdhga9
|
UTSW |
18 |
37,871,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Pcdhga9
|
UTSW |
18 |
37,871,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Pcdhga9
|
UTSW |
18 |
37,870,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Pcdhga9
|
UTSW |
18 |
37,872,184 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7619:Pcdhga9
|
UTSW |
18 |
37,871,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Pcdhga9
|
UTSW |
18 |
37,871,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Pcdhga9
|
UTSW |
18 |
37,870,007 (GRCm39) |
intron |
probably benign |
|
|
R8506:Pcdhga9
|
UTSW |
18 |
37,871,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTCCACCTGCAAACTGG -3'
(R):5'- ACAACGAACATTCTTCATAGTCCAG -3'
Sequencing Primer
(F):5'- CCTGCAAACTGGAGACGACG -3'
(R):5'- CCCCAGTGTTTTCATGAAGATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation