Incidental Mutation 'R7140:Pcdhga9'
| ID |
553441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga9
|
| Ensembl Gene |
ENSMUSG00000102440 |
| Gene Name |
protocadherin gamma subfamily A, 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R7140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37869989-37974916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37872184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 671
(D671G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000091935
AA Change: D671G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
AA Change: D671G
| 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 |
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: 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 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0840 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (70/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
T |
C |
8: 27,610,929 (GRCm39) |
|
probably null |
Het |
| Ap2a2 |
G |
A |
7: 141,178,777 (GRCm39) |
A148T |
probably benign |
Het |
| Arhgef3 |
A |
T |
14: 27,123,664 (GRCm39) |
N442Y |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,903,216 (GRCm39) |
Y191C |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,629,483 (GRCm39) |
K203* |
probably null |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,283 (GRCm39) |
Y188F |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,872,993 (GRCm39) |
V573A |
possibly damaging |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ccdc43 |
G |
T |
11: 102,579,695 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
A |
5: 93,416,614 (GRCm39) |
P45Q |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,263 (GRCm39) |
H68R |
probably benign |
Het |
| Cmtm4 |
A |
G |
8: 105,081,827 (GRCm39) |
Y187H |
probably damaging |
Het |
| Cst11 |
T |
C |
2: 148,610,649 (GRCm39) |
N134S |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,855 (GRCm39) |
F51I |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,342,973 (GRCm39) |
E1439G |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,686,158 (GRCm39) |
V131A |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,099,982 (GRCm39) |
S85P |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,078,283 (GRCm39) |
H324R |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,804,710 (GRCm39) |
D162G |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,506,604 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
C |
13: 56,680,145 (GRCm39) |
S203P |
probably damaging |
Het |
| Foxi1 |
G |
A |
11: 34,155,758 (GRCm39) |
R291C |
probably damaging |
Het |
| Gprin3 |
C |
T |
6: 59,332,128 (GRCm39) |
A60T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,491,118 (GRCm39) |
C212R |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,954,318 (GRCm39) |
L878P |
probably damaging |
Het |
| Hs6st3 |
A |
T |
14: 119,376,514 (GRCm39) |
N230Y |
probably damaging |
Het |
| Htr3b |
A |
G |
9: 48,848,441 (GRCm39) |
V268A |
possibly damaging |
Het |
| Ip6k3 |
T |
C |
17: 27,363,969 (GRCm39) |
T360A |
probably damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,536 (GRCm39) |
T282A |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,086,623 (GRCm39) |
I1019N |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,037 (GRCm39) |
V1043A |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,871,358 (GRCm39) |
V420I |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,708 (GRCm39) |
Y605F |
possibly damaging |
Het |
| Nek7 |
A |
G |
1: 138,414,793 (GRCm39) |
I285T |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,375,351 (GRCm39) |
V357A |
possibly damaging |
Het |
| Nrxn1 |
G |
A |
17: 91,396,192 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,795,297 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or4a67 |
G |
A |
2: 88,598,308 (GRCm39) |
A117V |
probably damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,818 (GRCm39) |
L23Q |
probably damaging |
Het |
| Or6c74 |
T |
G |
10: 129,870,083 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ostm1 |
C |
T |
10: 42,559,268 (GRCm39) |
A176V |
probably null |
Het |
| Pabpc6 |
C |
A |
17: 9,887,357 (GRCm39) |
S398I |
possibly damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,277,239 (GRCm39) |
P73H |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pigu |
A |
C |
2: 155,143,160 (GRCm39) |
L248R |
possibly damaging |
Het |
| Pinx1 |
C |
A |
14: 64,097,834 (GRCm39) |
|
probably null |
Het |
| Pon3 |
T |
C |
6: 5,221,664 (GRCm39) |
N322S |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,002 (GRCm39) |
H147P |
probably benign |
Het |
| Rnft1 |
A |
G |
11: 86,382,586 (GRCm39) |
I270V |
probably benign |
Het |
| Scgb2b11 |
A |
G |
7: 31,910,006 (GRCm39) |
F27L |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,910,943 (GRCm39) |
V298I |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,048,745 (GRCm39) |
H345L |
probably benign |
Het |
| Sox1 |
C |
T |
8: 12,447,405 (GRCm39) |
P349S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,913 (GRCm39) |
N354D |
probably benign |
Het |
| Speg |
T |
C |
1: 75,383,414 (GRCm39) |
|
probably null |
Het |
| Stpg1 |
T |
C |
4: 135,261,033 (GRCm39) |
I281T |
probably benign |
Het |
| Sult3a1 |
T |
C |
10: 33,753,283 (GRCm39) |
L193P |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,745,271 (GRCm39) |
C1097S |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,883,523 (GRCm39) |
S7P |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,021 (GRCm39) |
I519V |
probably benign |
Het |
| Tmem238 |
A |
G |
7: 4,792,072 (GRCm39) |
V157A |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,345,780 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
A |
T |
17: 72,021,761 (GRCm39) |
H742L |
probably benign |
Het |
| Trpc7 |
A |
T |
13: 56,937,487 (GRCm39) |
Y656* |
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
| Zfp759 |
A |
T |
13: 67,288,177 (GRCm39) |
H576L |
possibly damaging |
Het |
| Zfp958 |
G |
T |
8: 4,678,481 (GRCm39) |
A169S |
probably benign |
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 |
|
R4576:Pcdhga9
|
UTSW |
18 |
37,870,881 (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 |
|
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'- TCTTACCGTCTGCTCAAAGC -3'
(R):5'- ATGTGATGTTGGTACCCCAG -3'
Sequencing Primer
(F):5'- CTAGTGAGCCAGGACTTTTCACAG -3'
(R):5'- ATGTTGGTACCCCAGTGGATCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation