Incidental Mutation 'R6114:Pcdhgc3'
| ID |
485051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgc3
|
| Ensembl Gene |
ENSMUSG00000102918 |
| Gene Name |
protocadherin gamma subfamily C, 3 |
| Synonyms |
PC43, Pcdh2 |
| MMRRC Submission |
044263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37806364-37841873 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 37807872 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 442
(T442R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000076807]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192103]
[ENSMUST00000192511]
[ENSMUST00000208907]
[ENSMUST00000195112]
[ENSMUST00000195764]
[ENSMUST00000195823]
[ENSMUST00000194544]
[ENSMUST00000195363]
[ENSMUST00000192535]
[ENSMUST00000194928]
[ENSMUST00000193414]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000194418]
[ENSMUST00000193404]
[ENSMUST00000194190]
|
| AlphaFold |
Q91XX1 |
| 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: ENSMUST00000044851
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000076807
AA Change: T442R
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076085
Gene: ENSMUSG00000102918
AA Change: T442R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
26 |
N/A |
INTRINSIC |
|
CA
|
51 |
133 |
8.56e-3 |
SMART |
|
CA
|
157 |
242 |
1.78e-16 |
SMART |
|
CA
|
266 |
350 |
2.18e-25 |
SMART |
|
CA
|
374 |
455 |
7.09e-25 |
SMART |
|
CA
|
479 |
565 |
1.87e-24 |
SMART |
|
CA
|
593 |
674 |
1.79e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
689 |
774 |
3.9e-14 |
PFAM |
|
Pfam:Cadherin_tail
|
811 |
934 |
8.2e-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 |
noncoding transcript
Transcript: ENSMUST00000192003
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192103
|
| SMART Domains |
Protein: ENSMUSP00000141611
Gene: ENSMUSG00000102918
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
31 |
78 |
2.3e-13 |
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: ENSMUST00000194447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| 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: ENSMUST00000195764
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
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: 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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
94% (60/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
A |
14: 68,571,803 (GRCm38) |
V237L |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,842,297 (GRCm38) |
S878P |
probably damaging |
Het |
| Ahcy |
A |
C |
2: 155,062,159 (GRCm38) |
L386R |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,011,051 (GRCm38) |
N607D |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 68,097,744 (GRCm38) |
D776G |
possibly damaging |
Het |
| Art4 |
T |
A |
6: 136,857,213 (GRCm38) |
T11S |
unknown |
Het |
| Blm |
T |
C |
7: 80,513,487 (GRCm38) |
T39A |
probably damaging |
Het |
| Cabin1 |
T |
A |
10: 75,747,971 (GRCm38) |
M221L |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,596,140 (GRCm38) |
T1675A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,975,201 (GRCm38) |
H285L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,525,330 (GRCm38) |
E339G |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,725,953 (GRCm38) |
W150R |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,203,710 (GRCm38) |
I1187T |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 112,841,753 (GRCm38) |
H807R |
probably damaging |
Het |
| Copb1 |
T |
A |
7: 114,246,801 (GRCm38) |
H178L |
probably benign |
Het |
| Cpxm2 |
A |
G |
7: 132,154,306 (GRCm38) |
V103A |
probably benign |
Het |
| Egfr |
A |
G |
11: 16,904,374 (GRCm38) |
T849A |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,713,876 (GRCm38) |
K294* |
probably null |
Het |
| Fam208b |
G |
A |
13: 3,590,081 (GRCm38) |
T352M |
probably damaging |
Het |
| Gm884 |
T |
A |
11: 103,617,791 (GRCm38) |
|
probably benign |
Het |
| Hoxd9 |
A |
G |
2: 74,699,365 (GRCm38) |
N322D |
probably damaging |
Het |
| Hsph1 |
C |
A |
5: 149,627,387 (GRCm38) |
V416L |
possibly damaging |
Het |
| Igkv4-78 |
T |
A |
6: 69,059,759 (GRCm38) |
T97S |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,649,035 (GRCm38) |
C162F |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,692 (GRCm38) |
E222G |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,081,676 (GRCm38) |
N120S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,747,826 (GRCm38) |
I1318V |
probably benign |
Het |
| Lst1 |
T |
C |
17: 35,188,360 (GRCm38) |
T11A |
possibly damaging |
Het |
| Mfn1 |
C |
A |
3: 32,563,836 (GRCm38) |
A106D |
probably damaging |
Het |
| Ms4a12 |
G |
T |
19: 11,215,290 (GRCm38) |
N227K |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,478,816 (GRCm38) |
N273Y |
possibly damaging |
Het |
| Nrd1 |
A |
T |
4: 109,044,585 (GRCm38) |
K617M |
probably damaging |
Het |
| Olfr355 |
A |
T |
2: 36,927,689 (GRCm38) |
C142S |
possibly damaging |
Het |
| Olfr516 |
A |
T |
7: 108,845,386 (GRCm38) |
M208K |
possibly damaging |
Het |
| Olfr771 |
T |
A |
10: 129,160,333 (GRCm38) |
H217L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 125,773,947 (GRCm38) |
N1468S |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,511,112 (GRCm38) |
|
probably null |
Het |
| Pitx2 |
C |
G |
3: 129,204,413 (GRCm38) |
|
probably null |
Het |
| Reck |
T |
A |
4: 43,922,895 (GRCm38) |
I390N |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,371,323 (GRCm38) |
N254S |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,522,792 (GRCm38) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 101,040,596 (GRCm38) |
T1949A |
probably damaging |
Het |
| Slc22a15 |
A |
T |
3: 101,860,852 (GRCm38) |
Y346* |
probably null |
Het |
| Slc24a5 |
A |
G |
2: 125,083,092 (GRCm38) |
T218A |
probably benign |
Het |
| Slc38a10 |
G |
A |
11: 120,129,312 (GRCm38) |
Q305* |
probably null |
Het |
| Slc45a4 |
G |
A |
15: 73,605,604 (GRCm38) |
P28S |
probably damaging |
Het |
| Smyd5 |
A |
T |
6: 85,440,262 (GRCm38) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,567,520 (GRCm38) |
D403G |
probably damaging |
Het |
| Stx7 |
A |
G |
10: 24,184,985 (GRCm38) |
|
probably null |
Het |
| Svil |
T |
C |
18: 5,108,639 (GRCm38) |
S1522P |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 178,348,245 (GRCm38) |
R1403G |
probably benign |
Het |
| Tcf25 |
A |
T |
8: 123,384,375 (GRCm38) |
K192M |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,204,640 (GRCm38) |
G804S |
possibly damaging |
Het |
| Teddm1a |
C |
G |
1: 153,891,868 (GRCm38) |
S26C |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,854,669 (GRCm38) |
P155S |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,840,364 (GRCm38) |
D451V |
possibly damaging |
Het |
| Vmn1r173 |
A |
G |
7: 23,702,829 (GRCm38) |
N163S |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 19,812,325 (GRCm38) |
C787F |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,268,376 (GRCm38) |
P587L |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 25,824,605 (GRCm38) |
H134Y |
probably benign |
Het |
| Zbtb40 |
T |
A |
4: 136,988,691 (GRCm38) |
I988F |
probably damaging |
Het |
| Zfp536 |
A |
T |
7: 37,479,736 (GRCm38) |
I84N |
probably damaging |
Het |
| Zfp651 |
T |
A |
9: 121,765,595 (GRCm38) |
F540Y |
probably damaging |
Het |
|
| Other mutations in Pcdhgc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3861:Pcdhgc3
|
UTSW |
18 |
37,808,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5032:Pcdhgc3
|
UTSW |
18 |
37,807,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5371:Pcdhgc3
|
UTSW |
18 |
37,808,454 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5454:Pcdhgc3
|
UTSW |
18 |
37,808,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6065:Pcdhgc3
|
UTSW |
18 |
37,807,676 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6180:Pcdhgc3
|
UTSW |
18 |
37,806,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6996:Pcdhgc3
|
UTSW |
18 |
37,806,603 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7316:Pcdhgc3
|
UTSW |
18 |
37,808,448 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7465:Pcdhgc3
|
UTSW |
18 |
37,807,745 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7726:Pcdhgc3
|
UTSW |
18 |
37,806,879 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8134:Pcdhgc3
|
UTSW |
18 |
37,806,863 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8283:Pcdhgc3
|
UTSW |
18 |
37,807,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8307:Pcdhgc3
|
UTSW |
18 |
37,807,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8492:Pcdhgc3
|
UTSW |
18 |
37,807,294 (GRCm38) |
nonsense |
probably null |
|
|
R9045:Pcdhgc3
|
UTSW |
18 |
37,807,616 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9089:Pcdhgc3
|
UTSW |
18 |
37,808,211 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R9375:Pcdhgc3
|
UTSW |
18 |
37,806,638 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGATGCTGGAGAGAACG -3'
(R):5'- TGTGAAATAGCGACTCACGAGC -3'
Sequencing Primer
(F):5'- CTGGAGAGAACGGGTTGGTGAC -3'
(R):5'- GACTCACGAGCCCAGTTTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation