Incidental Mutation 'R6993:Pcdhga10'
| ID |
544005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga10
|
| Ensembl Gene |
ENSMUSG00000102222 |
| Gene Name |
protocadherin gamma subfamily A, 10 |
| Synonyms |
|
| MMRRC Submission |
045099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R6993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37880069-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37882309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 690
(Y690C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000193404]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| AlphaFold |
Q91XY9 |
| 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 benign
Transcript: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| 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 damaging
Transcript: ENSMUST00000193404
AA Change: Y690C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: Y690C
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
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: ENSMUST00000194928
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (66/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,975,053 (GRCm39) |
E10G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,115,866 (GRCm39) |
I3429V |
possibly damaging |
Het |
| Braf |
T |
A |
6: 39,620,097 (GRCm39) |
I441F |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,837 (GRCm39) |
V61E |
probably damaging |
Het |
| Camk2a |
C |
A |
18: 61,076,247 (GRCm39) |
|
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,673 (GRCm39) |
Y579C |
probably damaging |
Het |
| Celf1 |
T |
C |
2: 90,840,821 (GRCm39) |
Y363H |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,255,365 (GRCm39) |
T178A |
probably damaging |
Het |
| Cryab |
C |
T |
9: 50,664,748 (GRCm39) |
P58S |
probably benign |
Het |
| Ctsf |
G |
T |
19: 4,908,511 (GRCm39) |
R290L |
probably benign |
Het |
| Ctsw |
T |
A |
19: 5,515,865 (GRCm39) |
I258F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,299 (GRCm39) |
|
probably null |
Het |
| Drg1 |
TCATCTTCCA |
TCA |
11: 3,200,294 (GRCm39) |
|
probably null |
Het |
| Etfb |
A |
G |
7: 43,105,978 (GRCm39) |
T172A |
possibly damaging |
Het |
| Etfdh |
A |
G |
3: 79,519,338 (GRCm39) |
Y272H |
probably benign |
Het |
| Ewsr1 |
C |
T |
11: 5,021,573 (GRCm39) |
R454Q |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,642 (GRCm39) |
I229N |
probably damaging |
Het |
| Fam162a |
A |
T |
16: 35,870,215 (GRCm39) |
I88N |
probably damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,458,459 (GRCm39) |
S44P |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,830,517 (GRCm39) |
S4326R |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,043,610 (GRCm39) |
K400E |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,783,907 (GRCm39) |
V234A |
probably benign |
Het |
| Gfi1 |
T |
A |
5: 107,865,634 (GRCm39) |
H481L |
probably damaging |
Het |
| Gm5591 |
T |
A |
7: 38,218,647 (GRCm39) |
H742L |
probably benign |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| H2-DMb1 |
A |
C |
17: 34,376,324 (GRCm39) |
T148P |
possibly damaging |
Het |
| H2-T3 |
A |
G |
17: 36,497,962 (GRCm39) |
L317P |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,380 (GRCm39) |
T190A |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,312,190 (GRCm39) |
L1477F |
possibly damaging |
Het |
| Insr |
C |
T |
8: 3,308,752 (GRCm39) |
G95S |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,846,414 (GRCm39) |
I394V |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,945,550 (GRCm39) |
L323P |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,133,071 (GRCm39) |
D69G |
probably benign |
Het |
| Krt1c |
C |
T |
15: 101,724,395 (GRCm39) |
E290K |
probably damaging |
Het |
| Krtap4-6 |
G |
T |
11: 99,556,545 (GRCm39) |
R61S |
unknown |
Het |
| Ldc1 |
A |
G |
4: 130,112,106 (GRCm39) |
L192P |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,822,540 (GRCm39) |
K477M |
probably damaging |
Het |
| Lvrn |
T |
C |
18: 47,015,365 (GRCm39) |
V579A |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,155,602 (GRCm39) |
I2004L |
unknown |
Het |
| Mast4 |
A |
T |
13: 102,872,482 (GRCm39) |
N2103K |
probably benign |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,749,900 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,933 (GRCm39) |
M45L |
probably benign |
Het |
| Or52ab2 |
G |
T |
7: 102,969,998 (GRCm39) |
|
probably benign |
Het |
| Pdcd2 |
A |
G |
17: 15,747,343 (GRCm39) |
Y65H |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,076,698 (GRCm39) |
E309G |
probably benign |
Het |
| Psmb8 |
A |
G |
17: 34,418,617 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,862,299 (GRCm39) |
W513R |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,343,898 (GRCm39) |
V383I |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,564,013 (GRCm39) |
L589S |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,515,427 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,313,586 (GRCm39) |
S1925T |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,842 (GRCm39) |
M360K |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,088,391 (GRCm39) |
F79I |
probably benign |
Het |
| Slc2a6 |
G |
T |
2: 26,917,255 (GRCm39) |
S45R |
probably damaging |
Het |
| Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
| Sppl3 |
T |
A |
5: 115,220,349 (GRCm39) |
M87K |
probably damaging |
Het |
| Tbcel |
A |
T |
9: 42,327,413 (GRCm39) |
L330* |
probably null |
Het |
| Tbx5 |
A |
T |
5: 120,009,454 (GRCm39) |
Y321F |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,975,403 (GRCm39) |
Y934N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,588,952 (GRCm39) |
Q1039L |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,822,195 (GRCm39) |
L291P |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,300,500 (GRCm39) |
F988I |
unknown |
Het |
| Zfp947 |
G |
A |
17: 22,364,961 (GRCm39) |
P238S |
probably benign |
Het |
|
| Other mutations in Pcdhga10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4468001:Pcdhga10
|
UTSW |
18 |
37,880,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Pcdhga10
|
UTSW |
18 |
37,881,253 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2849:Pcdhga10
|
UTSW |
18 |
37,881,253 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3692:Pcdhga10
|
UTSW |
18 |
37,881,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Pcdhga10
|
UTSW |
18 |
37,880,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3821:Pcdhga10
|
UTSW |
18 |
37,880,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3850:Pcdhga10
|
UTSW |
18 |
37,882,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Pcdhga10
|
UTSW |
18 |
37,880,494 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3891:Pcdhga10
|
UTSW |
18 |
37,882,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3892:Pcdhga10
|
UTSW |
18 |
37,882,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4871:Pcdhga10
|
UTSW |
18 |
37,881,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4952:Pcdhga10
|
UTSW |
18 |
37,880,213 (GRCm39) |
intron |
probably benign |
|
|
R5269:Pcdhga10
|
UTSW |
18 |
37,881,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5354:Pcdhga10
|
UTSW |
18 |
37,881,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Pcdhga10
|
UTSW |
18 |
37,880,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Pcdhga10
|
UTSW |
18 |
37,882,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6910:Pcdhga10
|
UTSW |
18 |
37,881,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7379:Pcdhga10
|
UTSW |
18 |
37,880,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Pcdhga10
|
UTSW |
18 |
37,881,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8838:Pcdhga10
|
UTSW |
18 |
37,881,952 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9135:Pcdhga10
|
UTSW |
18 |
37,880,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Pcdhga10
|
UTSW |
18 |
37,881,814 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9341:Pcdhga10
|
UTSW |
18 |
37,880,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9343:Pcdhga10
|
UTSW |
18 |
37,880,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9494:Pcdhga10
|
UTSW |
18 |
37,882,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9789:Pcdhga10
|
UTSW |
18 |
37,882,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Pcdhga10
|
UTSW |
18 |
37,881,648 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGATGGAAAGAGATGCTCTC -3'
(R):5'- ATGACTCTTCCGCGAATCAG -3'
Sequencing Primer
(F):5'- CTCTCAAGCAGAGTCTAGTGG -3'
(R):5'- AACCTCGTGCGAATAGGTCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation