Incidental Mutation 'R2870:Pcdhga9'
| ID |
475567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga9
|
| Ensembl Gene |
ENSMUSG00000102440 |
| Gene Name |
protocadherin gamma subfamily A, 9 |
| Synonyms |
|
| MMRRC Submission |
040458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R2870 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37869989-37974916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37870524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 118
(Y118N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000195363]
[ENSMUST00000194190]
[ENSMUST00000192931]
[ENSMUST00000193414]
[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: Y118N
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
AA Change: Y118N
| 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
G |
3: 30,653,847 (GRCm39) |
V51A |
probably damaging |
Het |
| Adgb |
C |
T |
10: 10,307,025 (GRCm39) |
|
probably null |
Het |
| Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
| Ankrd10 |
C |
T |
8: 11,665,682 (GRCm39) |
R306H |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
| Armc2 |
C |
T |
10: 41,842,696 (GRCm39) |
|
probably null |
Het |
| Atp12a |
A |
G |
14: 56,624,407 (GRCm39) |
R952G |
possibly damaging |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,258 (GRCm39) |
Y87C |
probably benign |
Het |
| C030034I22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna2d1 |
G |
A |
5: 16,517,566 (GRCm39) |
C404Y |
probably damaging |
Het |
| Ccdc163 |
T |
C |
4: 116,599,058 (GRCm39) |
|
silent |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
| Cimap1d |
G |
A |
10: 79,481,487 (GRCm39) |
T14I |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,451,511 (GRCm39) |
F113S |
unknown |
Het |
| Csmd3 |
C |
T |
15: 47,721,320 (GRCm39) |
G1437D |
probably damaging |
Het |
| Cyp4a14 |
C |
A |
4: 115,344,498 (GRCm39) |
G456W |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,559 (GRCm39) |
H260R |
possibly damaging |
Het |
| Dcp1b |
C |
T |
6: 119,191,735 (GRCm39) |
S217L |
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,359,974 (GRCm39) |
S217G |
probably benign |
Het |
| Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,967,104 (GRCm39) |
I164T |
possibly damaging |
Het |
| Esr1 |
G |
A |
10: 4,947,890 (GRCm39) |
R481H |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
| Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
| Gm21759 |
T |
A |
5: 8,230,863 (GRCm39) |
|
probably benign |
Het |
| Gm5454 |
C |
A |
13: 103,494,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9874 |
A |
T |
17: 30,704,763 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
| Gria4 |
T |
A |
9: 4,503,614 (GRCm39) |
N334I |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,251,930 (GRCm39) |
V60A |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,415,205 (GRCm39) |
V1335I |
probably benign |
Het |
| Ino80d |
C |
T |
1: 63,100,198 (GRCm39) |
|
probably null |
Het |
| Kif1c |
A |
G |
11: 70,614,907 (GRCm39) |
E567G |
probably damaging |
Het |
| Krt31 |
T |
G |
11: 99,938,699 (GRCm39) |
N298T |
possibly damaging |
Het |
| Mapk7 |
C |
A |
11: 61,381,038 (GRCm39) |
|
probably benign |
Het |
| Marchf8 |
C |
T |
6: 116,378,106 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
T |
A |
18: 35,705,349 (GRCm39) |
S91R |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,986,847 (GRCm39) |
T267A |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
| Mtm1 |
T |
C |
X: 70,339,968 (GRCm39) |
|
probably benign |
Homo |
| Mtor |
T |
A |
4: 148,624,487 (GRCm39) |
M2089K |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,761,268 (GRCm39) |
K457R |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,899,405 (GRCm39) |
|
probably benign |
Het |
| Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
| Or10g1 |
T |
G |
14: 52,648,318 (GRCm39) |
T4P |
probably benign |
Het |
| Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
| Or8k33 |
T |
C |
2: 86,383,928 (GRCm39) |
D180G |
possibly damaging |
Het |
| Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,387,702 (GRCm39) |
N300K |
possibly damaging |
Het |
| Otx1 |
A |
G |
11: 21,948,681 (GRCm39) |
|
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,833 (GRCm39) |
Q453L |
possibly damaging |
Het |
| Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
| Plekhg5 |
T |
A |
4: 152,191,960 (GRCm39) |
C433S |
probably benign |
Het |
| Plin2 |
A |
G |
4: 86,586,915 (GRCm39) |
M1T |
probably null |
Het |
| Pold1 |
C |
T |
7: 44,192,771 (GRCm39) |
|
silent |
Het |
| Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,462,519 (GRCm39) |
|
probably null |
Het |
| Rel |
T |
C |
11: 23,711,129 (GRCm39) |
I13V |
probably benign |
Het |
| Reln |
C |
T |
5: 22,254,789 (GRCm39) |
V527I |
possibly damaging |
Het |
| Retnla |
A |
G |
16: 48,663,975 (GRCm39) |
R90G |
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,943,278 (GRCm39) |
I234N |
probably benign |
Het |
| Shoc1 |
A |
C |
4: 59,093,850 (GRCm39) |
L226R |
probably damaging |
Het |
| Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,740,825 (GRCm39) |
I247V |
probably benign |
Het |
| Son |
A |
G |
16: 91,461,205 (GRCm39) |
|
probably null |
Het |
| Spcs2 |
T |
C |
7: 99,488,968 (GRCm39) |
D240G |
probably damaging |
Het |
| Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,992 (GRCm39) |
|
probably benign |
Het |
| Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
| Thbs1 |
C |
G |
2: 117,949,859 (GRCm39) |
N611K |
probably damaging |
Het |
| Tipin |
A |
C |
9: 64,211,609 (GRCm39) |
S232R |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,715,332 (GRCm39) |
D347G |
probably benign |
Het |
| Tmem161a |
C |
T |
8: 70,631,565 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
| Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
| Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,152,481 (GRCm39) |
|
silent |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-05-11 |
Incidental Mutation