Incidental Mutation 'R6242:Pcdhgb6'
| ID |
505339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb6
|
| Ensembl Gene |
ENSMUSG00000103088 |
| Gene Name |
protocadherin gamma subfamily B, 6 |
| Synonyms |
|
| MMRRC Submission |
044434-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37875147-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37876608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 439
(V439I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195363]
[ENSMUST00000195823]
[ENSMUST00000193404]
[ENSMUST00000195112]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193414]
|
| AlphaFold |
Q91XX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
AA Change: V439I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: V439I
| 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 |
noncoding transcript
Transcript: ENSMUST00000180931
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000194814
|
| 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: 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 |
|
| 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: 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: 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: ENSMUST00000193984
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (75/76) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,630,910 (GRCm39) |
V226F |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,376,053 (GRCm39) |
T1734A |
probably benign |
Het |
| Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha6 |
A |
T |
16: 59,503,025 (GRCm39) |
W961R |
probably damaging |
Het |
| Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
| Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
| Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
| Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
| Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
| Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
| Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
| Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
| Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
| Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
| Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
| Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
| Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
| Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
| Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
| Prdm10 |
A |
T |
9: 31,252,548 (GRCm39) |
H427L |
possibly damaging |
Het |
| Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
| Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
| Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
| Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
| Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
| Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
| Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
| Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
| Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
| Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,359 (GRCm39) |
E89G |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
possibly damaging |
Het |
|
| Other mutations in Pcdhgb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Pcdhgb6
|
APN |
18 |
37,876,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Pcdhgb6
|
UTSW |
18 |
37,875,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4921:Pcdhgb6
|
UTSW |
18 |
37,876,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5019:Pcdhgb6
|
UTSW |
18 |
37,875,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Pcdhgb6
|
UTSW |
18 |
37,875,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5828:Pcdhgb6
|
UTSW |
18 |
37,877,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6056:Pcdhgb6
|
UTSW |
18 |
37,876,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6375:Pcdhgb6
|
UTSW |
18 |
37,875,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6836:Pcdhgb6
|
UTSW |
18 |
37,876,015 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6973:Pcdhgb6
|
UTSW |
18 |
37,875,526 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7185:Pcdhgb6
|
UTSW |
18 |
37,876,701 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7994:Pcdhgb6
|
UTSW |
18 |
37,875,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Pcdhgb6
|
UTSW |
18 |
37,875,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8460:Pcdhgb6
|
UTSW |
18 |
37,877,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8558:Pcdhgb6
|
UTSW |
18 |
37,877,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Pcdhgb6
|
UTSW |
18 |
37,875,975 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8808:Pcdhgb6
|
UTSW |
18 |
37,876,451 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9350:Pcdhgb6
|
UTSW |
18 |
37,876,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Pcdhgb6
|
UTSW |
18 |
37,875,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9707:Pcdhgb6
|
UTSW |
18 |
37,876,768 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9765:Pcdhgb6
|
UTSW |
18 |
37,876,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAACGAGAGATCGGGATTTCG -3'
(R):5'- CACAGCGATTTAGGCTCCAG -3'
Sequencing Primer
(F):5'- TTTCGGAGGAAATGGGGAAGTCAC -3'
(R):5'- CGATTTAGGCTCCAGGTCACTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation