Incidental Mutation 'R4810:Pcdhga9'
ID |
371043 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga9
|
Ensembl Gene |
ENSMUSG00000102440 |
Gene Name |
protocadherin gamma subfamily A, 9 |
Synonyms |
|
MMRRC Submission |
042429-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R4810 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37869989-37974916 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37871601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 477
(A477T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000194544]
[ENSMUST00000192535]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000192931]
[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: A477T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000089555 Gene: ENSMUSG00000102440 AA Change: A477T
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 |
noncoding transcript
Transcript: ENSMUST00000194814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193006
|
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: 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: 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: 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: 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: 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: 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: 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 |
0.2500 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
99% (93/94) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,236,216 (GRCm39) |
V1189A |
possibly damaging |
Het |
A3galt2 |
T |
C |
4: 128,649,356 (GRCm39) |
|
probably null |
Het |
Abca12 |
T |
C |
1: 71,342,771 (GRCm39) |
D903G |
probably benign |
Het |
Abcc12 |
T |
C |
8: 87,287,471 (GRCm39) |
M125V |
probably damaging |
Het |
Adad1 |
A |
G |
3: 37,146,183 (GRCm39) |
N517S |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,774,302 (GRCm39) |
|
probably benign |
Het |
Armc7 |
A |
G |
11: 115,379,787 (GRCm39) |
I162V |
probably benign |
Het |
Art3 |
T |
A |
5: 92,562,108 (GRCm39) |
V343D |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,419,650 (GRCm39) |
T1106A |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,876,099 (GRCm39) |
N644D |
possibly damaging |
Het |
Ccdc154 |
T |
C |
17: 25,382,472 (GRCm39) |
L98S |
probably damaging |
Het |
Ccne1 |
A |
G |
7: 37,799,018 (GRCm39) |
W237R |
probably damaging |
Het |
Cd33 |
T |
C |
7: 43,182,134 (GRCm39) |
I104V |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,173,945 (GRCm39) |
*237K |
probably null |
Het |
Ces1e |
T |
A |
8: 93,935,259 (GRCm39) |
I398F |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,271,898 (GRCm39) |
I1217T |
probably damaging |
Het |
Clns1a |
T |
C |
7: 97,363,224 (GRCm39) |
S199P |
probably benign |
Het |
Cntn4 |
C |
A |
6: 106,632,572 (GRCm39) |
T532K |
probably benign |
Het |
Col11a2 |
C |
T |
17: 34,276,086 (GRCm39) |
S470L |
probably damaging |
Het |
Cst5 |
A |
T |
2: 149,247,463 (GRCm39) |
R60* |
probably null |
Het |
Cxcr6 |
A |
T |
9: 123,639,227 (GRCm39) |
D83V |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,975,296 (GRCm39) |
V774A |
probably damaging |
Het |
Dusp15 |
A |
G |
2: 152,787,374 (GRCm39) |
L79P |
probably damaging |
Het |
Elapor1 |
T |
A |
3: 108,377,327 (GRCm39) |
|
probably benign |
Het |
Eml6 |
A |
T |
11: 29,705,011 (GRCm39) |
V1511E |
possibly damaging |
Het |
Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
Fam227b |
A |
G |
2: 125,829,859 (GRCm39) |
F450L |
probably benign |
Het |
Fam91a1 |
T |
A |
15: 58,306,589 (GRCm39) |
L452Q |
probably damaging |
Het |
Fbxo44 |
T |
C |
4: 148,240,903 (GRCm39) |
Y199C |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,443,126 (GRCm39) |
S149P |
probably benign |
Het |
Gabra4 |
T |
C |
5: 71,781,325 (GRCm39) |
E362G |
probably damaging |
Het |
Galnt14 |
T |
C |
17: 73,819,116 (GRCm39) |
I325V |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gm10088 |
G |
T |
16: 18,847,081 (GRCm39) |
|
noncoding transcript |
Het |
Grik5 |
T |
C |
7: 24,714,922 (GRCm39) |
N691D |
probably damaging |
Het |
Grm1 |
C |
G |
10: 10,658,438 (GRCm39) |
D351H |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,761,295 (GRCm39) |
S310G |
possibly damaging |
Het |
Gtf2h2 |
A |
G |
13: 100,617,510 (GRCm39) |
|
probably null |
Het |
Hhex |
G |
T |
19: 37,428,103 (GRCm39) |
L49F |
probably damaging |
Het |
Hkdc1 |
T |
A |
10: 62,247,304 (GRCm39) |
R159S |
probably benign |
Het |
Iqcm |
A |
G |
8: 76,615,281 (GRCm39) |
Y454C |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,212,248 (GRCm39) |
|
probably null |
Het |
Larp4b |
A |
G |
13: 9,208,627 (GRCm39) |
T427A |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,448,046 (GRCm39) |
N297K |
probably benign |
Het |
Nek8 |
G |
A |
11: 78,058,629 (GRCm39) |
T557I |
probably benign |
Het |
Nlrp9c |
A |
C |
7: 26,077,602 (GRCm39) |
|
probably null |
Het |
Nmrk1 |
T |
A |
19: 18,617,273 (GRCm39) |
D48E |
probably benign |
Het |
Npepps |
G |
A |
11: 97,131,759 (GRCm39) |
T365I |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
Or8b44 |
C |
A |
9: 38,410,620 (GRCm39) |
Y218* |
probably null |
Het |
Or8c9 |
A |
G |
9: 38,241,690 (GRCm39) |
E269G |
probably benign |
Het |
Otud7b |
C |
T |
3: 96,043,918 (GRCm39) |
A23V |
probably damaging |
Het |
Plekha7 |
A |
T |
7: 115,744,173 (GRCm39) |
I663N |
probably damaging |
Het |
Plscr1l1 |
A |
G |
9: 92,236,683 (GRCm39) |
D190G |
probably damaging |
Het |
Polk |
A |
T |
13: 96,620,003 (GRCm39) |
S732R |
possibly damaging |
Het |
Ppfia2 |
A |
G |
10: 106,751,551 (GRCm39) |
I1166V |
probably benign |
Het |
Ppp2r5a |
C |
T |
1: 191,088,589 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,897,011 (GRCm39) |
K401E |
probably damaging |
Het |
Ptpn23 |
A |
G |
9: 110,218,204 (GRCm39) |
Y611H |
possibly damaging |
Het |
Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
A |
12: 11,507,406 (GRCm39) |
C443S |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,841,778 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
C |
10: 39,699,721 (GRCm39) |
L1406P |
probably benign |
Het |
Rnaset2b |
T |
A |
17: 7,259,167 (GRCm39) |
D48E |
probably benign |
Het |
Rnf13 |
G |
T |
3: 57,703,693 (GRCm39) |
M105I |
probably damaging |
Het |
Rnf150 |
T |
C |
8: 83,716,991 (GRCm39) |
V166A |
possibly damaging |
Het |
Rps6kc1 |
C |
A |
1: 190,541,160 (GRCm39) |
R381L |
probably damaging |
Het |
Rspo2 |
C |
T |
15: 43,033,216 (GRCm39) |
R2H |
probably benign |
Het |
Septin8 |
A |
G |
11: 53,425,416 (GRCm39) |
D103G |
probably damaging |
Het |
Sirt4 |
A |
G |
5: 115,618,508 (GRCm39) |
W189R |
probably damaging |
Het |
Slco6d1 |
T |
C |
1: 98,350,979 (GRCm39) |
V110A |
possibly damaging |
Het |
Sncaip |
C |
A |
18: 53,040,271 (GRCm39) |
Q822K |
possibly damaging |
Het |
Spg11 |
A |
C |
2: 121,890,277 (GRCm39) |
F2070V |
probably damaging |
Het |
Sptb |
A |
T |
12: 76,669,971 (GRCm39) |
Y452* |
probably null |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Tead1 |
C |
A |
7: 112,441,073 (GRCm39) |
|
probably null |
Het |
Tmem156 |
G |
T |
5: 65,248,790 (GRCm39) |
|
probably benign |
Het |
Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
Tmem260 |
A |
G |
14: 48,709,930 (GRCm39) |
E51G |
probably damaging |
Het |
Trim36 |
G |
T |
18: 46,305,536 (GRCm39) |
N470K |
probably benign |
Het |
Trps1 |
T |
A |
15: 50,685,692 (GRCm39) |
T158S |
probably benign |
Het |
Ube2c |
A |
G |
2: 164,614,482 (GRCm39) |
*180W |
probably null |
Het |
Ube2i |
T |
C |
17: 25,484,121 (GRCm39) |
D45G |
probably benign |
Het |
Uggt2 |
A |
C |
14: 119,250,933 (GRCm39) |
L1188R |
probably damaging |
Het |
Uroc1 |
T |
C |
6: 90,340,135 (GRCm39) |
I680T |
probably damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,044,883 (GRCm39) |
M88L |
probably damaging |
Het |
Zfp248 |
G |
A |
6: 118,406,807 (GRCm39) |
R261C |
possibly damaging |
Het |
Zfp418 |
G |
T |
7: 7,185,846 (GRCm39) |
R603L |
possibly damaging |
Het |
Zmpste24 |
T |
A |
4: 120,918,251 (GRCm39) |
Y457F |
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 |
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 |
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'- CTGAGTATAACATCACAGTGACAGC -3'
(R):5'- CACAGACAGGGACACATTGC -3'
Sequencing Primer
(F):5'- TCACAGTGACAGCAACAGACAGG -3'
(R):5'- ACAGGGACACATTGCTGCTG -3'
|
Posted On |
2016-02-04 |