Incidental Mutation 'R7045:Pcdhb6'
ID |
547283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb6
|
Ensembl Gene |
ENSMUSG00000051678 |
Gene Name |
protocadherin beta 6 |
Synonyms |
Pcdhb5B, PcdhbF |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R7045 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 37469329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 750
(Q750P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
AlphaFold |
Q91XZ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061717
AA Change: Q750P
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000058592 Gene: ENSMUSG00000051678 AA Change: Q750P
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
30 |
112 |
2.7e-33 |
PFAM |
CA
|
155 |
240 |
1.48e-22 |
SMART |
CA
|
264 |
344 |
3.02e-28 |
SMART |
CA
|
367 |
448 |
1.69e-22 |
SMART |
CA
|
472 |
558 |
1.65e-25 |
SMART |
CA
|
588 |
669 |
6.24e-12 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
4.7e-26 |
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: ENSMUST00000193984
|
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: ENSMUST00000194655
|
SMART Domains |
Protein: ENSMUSP00000141773 Gene: ENSMUSG00000051678
Domain | Start | End | E-Value | Type |
Blast:CA
|
1 |
60 |
2e-11 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1 |
A |
T |
12: 112,628,735 (GRCm39) |
Y18* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,806,393 (GRCm39) |
A583S |
probably damaging |
Het |
Aoc1l3 |
T |
C |
6: 48,965,546 (GRCm39) |
V518A |
possibly damaging |
Het |
Atp8b4 |
T |
C |
2: 126,214,115 (GRCm39) |
N706S |
probably benign |
Het |
Bace2 |
A |
G |
16: 97,200,865 (GRCm39) |
N111S |
probably damaging |
Het |
Cnp |
A |
T |
11: 100,471,184 (GRCm39) |
R275S |
probably benign |
Het |
Cs |
T |
A |
10: 128,188,586 (GRCm39) |
M104K |
probably benign |
Het |
Ctcfl |
G |
A |
2: 172,954,167 (GRCm39) |
T310I |
probably damaging |
Het |
Cyp2d40 |
T |
C |
15: 82,645,763 (GRCm39) |
I81V |
probably benign |
Het |
Ddx19a |
A |
G |
8: 111,719,706 (GRCm39) |
V30A |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dock6 |
G |
A |
9: 21,733,107 (GRCm39) |
A1062V |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,067,395 (GRCm39) |
D172G |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,504 (GRCm39) |
D638G |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,103,522 (GRCm39) |
A105S |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 38,942,750 (GRCm39) |
I548V |
probably benign |
Het |
Gabrb2 |
G |
A |
11: 42,484,758 (GRCm39) |
A272T |
probably damaging |
Het |
Gask1a |
T |
C |
9: 121,794,707 (GRCm39) |
L287P |
probably damaging |
Het |
Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Hk1 |
C |
A |
10: 62,122,349 (GRCm39) |
G477C |
probably damaging |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Kiss1r |
A |
G |
10: 79,755,259 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Loxl4 |
G |
T |
19: 42,595,074 (GRCm39) |
N200K |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,192,398 (GRCm39) |
V104A |
probably benign |
Het |
Lyst |
T |
A |
13: 13,809,485 (GRCm39) |
V385D |
probably benign |
Het |
Lyst |
T |
A |
13: 13,812,293 (GRCm39) |
C902S |
probably damaging |
Het |
Mrpl28 |
T |
C |
17: 26,345,261 (GRCm39) |
F227S |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,448,896 (GRCm39) |
V289E |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,465,732 (GRCm39) |
V80A |
probably damaging |
Het |
Nid2 |
C |
T |
14: 19,829,749 (GRCm39) |
A680V |
possibly damaging |
Het |
Nudcd1 |
T |
C |
15: 44,269,226 (GRCm39) |
N145D |
probably benign |
Het |
Nup210 |
A |
T |
6: 91,031,433 (GRCm39) |
I812N |
probably damaging |
Het |
Or2ak6 |
A |
T |
11: 58,592,495 (GRCm39) |
|
probably benign |
Het |
Or2g7 |
C |
T |
17: 38,378,862 (GRCm39) |
H267Y |
probably benign |
Het |
Or2y17 |
A |
T |
11: 49,231,757 (GRCm39) |
T133S |
probably damaging |
Het |
Or52n4b |
A |
G |
7: 108,144,452 (GRCm39) |
K238R |
probably damaging |
Het |
Or5b114-ps1 |
C |
A |
19: 13,352,336 (GRCm39) |
N3K |
probably damaging |
Het |
Or8c11 |
T |
A |
9: 38,289,729 (GRCm39) |
M184K |
probably damaging |
Het |
Or8k16 |
A |
G |
2: 85,520,255 (GRCm39) |
S161G |
possibly damaging |
Het |
Plppr4 |
T |
C |
3: 117,153,683 (GRCm39) |
Y72C |
probably damaging |
Het |
Rasgrf2 |
G |
T |
13: 92,159,100 (GRCm39) |
|
probably benign |
Het |
Sbk2 |
A |
G |
7: 4,961,905 (GRCm39) |
I127T |
probably damaging |
Het |
Smchd1 |
A |
C |
17: 71,722,039 (GRCm39) |
S817A |
probably benign |
Het |
Speer4b |
A |
T |
5: 27,705,123 (GRCm39) |
N83K |
probably damaging |
Het |
Strc |
A |
T |
2: 121,201,207 (GRCm39) |
L1296Q |
probably damaging |
Het |
Thap11 |
C |
A |
8: 106,582,215 (GRCm39) |
R75S |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,111,407 (GRCm39) |
L268R |
possibly damaging |
Het |
Zfp39 |
A |
T |
11: 58,781,269 (GRCm39) |
C498S |
unknown |
Het |
Zfp507 |
T |
C |
7: 35,494,978 (GRCm39) |
T22A |
possibly damaging |
Het |
Zfp85 |
T |
C |
13: 67,897,712 (GRCm39) |
Y120C |
probably benign |
Het |
Zfp882 |
G |
A |
8: 72,667,093 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pcdhb6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Pcdhb6
|
APN |
18 |
37,467,277 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02123:Pcdhb6
|
APN |
18 |
37,468,873 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02491:Pcdhb6
|
APN |
18 |
37,468,735 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02496:Pcdhb6
|
APN |
18 |
37,468,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02608:Pcdhb6
|
APN |
18 |
37,467,747 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03130:Pcdhb6
|
APN |
18 |
37,468,640 (GRCm39) |
nonsense |
probably null |
|
IGL03144:Pcdhb6
|
APN |
18 |
37,467,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Pcdhb6
|
APN |
18 |
37,469,205 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03203:Pcdhb6
|
APN |
18 |
37,467,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03388:Pcdhb6
|
APN |
18 |
37,469,190 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4445001:Pcdhb6
|
UTSW |
18 |
37,468,300 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0571:Pcdhb6
|
UTSW |
18 |
37,468,167 (GRCm39) |
missense |
probably benign |
0.01 |
R0734:Pcdhb6
|
UTSW |
18 |
37,468,387 (GRCm39) |
missense |
probably damaging |
0.99 |
R1727:Pcdhb6
|
UTSW |
18 |
37,467,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
R2207:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
R2303:Pcdhb6
|
UTSW |
18 |
37,469,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Pcdhb6
|
UTSW |
18 |
37,468,222 (GRCm39) |
missense |
probably benign |
0.35 |
R3409:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R3411:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R3625:Pcdhb6
|
UTSW |
18 |
37,469,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Pcdhb6
|
UTSW |
18 |
37,469,259 (GRCm39) |
missense |
probably benign |
0.01 |
R4745:Pcdhb6
|
UTSW |
18 |
37,468,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4821:Pcdhb6
|
UTSW |
18 |
37,467,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R5218:Pcdhb6
|
UTSW |
18 |
37,467,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5465:Pcdhb6
|
UTSW |
18 |
37,467,783 (GRCm39) |
missense |
probably damaging |
0.97 |
R5522:Pcdhb6
|
UTSW |
18 |
37,467,402 (GRCm39) |
missense |
probably benign |
|
R5556:Pcdhb6
|
UTSW |
18 |
37,467,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R5703:Pcdhb6
|
UTSW |
18 |
37,467,753 (GRCm39) |
missense |
probably benign |
0.15 |
R6154:Pcdhb6
|
UTSW |
18 |
37,467,966 (GRCm39) |
missense |
probably benign |
0.00 |
R6256:Pcdhb6
|
UTSW |
18 |
37,468,978 (GRCm39) |
missense |
probably damaging |
0.98 |
R6304:Pcdhb6
|
UTSW |
18 |
37,468,974 (GRCm39) |
nonsense |
probably null |
|
R6528:Pcdhb6
|
UTSW |
18 |
37,467,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R6883:Pcdhb6
|
UTSW |
18 |
37,468,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Pcdhb6
|
UTSW |
18 |
37,468,531 (GRCm39) |
missense |
probably benign |
|
R7313:Pcdhb6
|
UTSW |
18 |
37,468,261 (GRCm39) |
missense |
probably damaging |
0.99 |
R7378:Pcdhb6
|
UTSW |
18 |
37,468,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Pcdhb6
|
UTSW |
18 |
37,468,332 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7606:Pcdhb6
|
UTSW |
18 |
37,468,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R7701:Pcdhb6
|
UTSW |
18 |
37,467,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R7830:Pcdhb6
|
UTSW |
18 |
37,469,365 (GRCm39) |
missense |
probably benign |
0.05 |
R7905:Pcdhb6
|
UTSW |
18 |
37,467,607 (GRCm39) |
missense |
probably benign |
0.00 |
R7982:Pcdhb6
|
UTSW |
18 |
37,467,273 (GRCm39) |
nonsense |
probably null |
|
R8818:Pcdhb6
|
UTSW |
18 |
37,468,837 (GRCm39) |
missense |
probably benign |
0.06 |
R8917:Pcdhb6
|
UTSW |
18 |
37,468,431 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9397:Pcdhb6
|
UTSW |
18 |
37,469,353 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Pcdhb6
|
UTSW |
18 |
37,468,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGCTCACACTCTACCTGG -3'
(R):5'- CCCTACACAATTAGAAATCATGGG -3'
Sequencing Primer
(F):5'- ACCTGGTCATTGCCTTGG -3'
(R):5'- CAAGGAAAAATTGTTAAATGCAAAGG -3'
|
Posted On |
2019-05-13 |