Incidental Mutation 'IGL02491:Pcdhb6'
| ID |
295623 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL02491
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37468735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 552
(D552V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
| AlphaFold |
Q91XZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061717
AA Change: D552V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: D552V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,067,794 (GRCm39) |
|
probably benign |
Het |
| Acacb |
T |
A |
5: 114,330,166 (GRCm39) |
I443N |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,067 (GRCm39) |
I118F |
possibly damaging |
Het |
| Carmil3 |
C |
T |
14: 55,741,974 (GRCm39) |
A1148V |
probably benign |
Het |
| Ccdc62 |
A |
T |
5: 124,099,378 (GRCm39) |
S677C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,181 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
A |
G |
19: 10,517,001 (GRCm39) |
I368V |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,428,050 (GRCm39) |
S2934P |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,777,511 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,326,039 (GRCm39) |
Y2709H |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,682 (GRCm39) |
L375Q |
possibly damaging |
Het |
| Etv4 |
A |
T |
11: 101,674,791 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
A |
9: 53,286,343 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,558,736 (GRCm39) |
H298Q |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,972,887 (GRCm39) |
Y349F |
probably benign |
Het |
| Foxs1 |
G |
A |
2: 152,774,721 (GRCm39) |
R111C |
probably damaging |
Het |
| Galnt15 |
T |
A |
14: 31,778,273 (GRCm39) |
L436Q |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,250,979 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,577 (GRCm38) |
C29* |
probably null |
Het |
| Hcn1 |
A |
G |
13: 117,946,576 (GRCm39) |
D317G |
unknown |
Het |
| Itgam |
A |
G |
7: 127,715,190 (GRCm39) |
N877D |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,361,757 (GRCm39) |
R1047G |
probably damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,226 (GRCm39) |
R180G |
possibly damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,600,879 (GRCm39) |
V241A |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,170,682 (GRCm39) |
N24S |
probably null |
Het |
| Mprip |
A |
G |
11: 59,660,857 (GRCm39) |
T967A |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,732,372 (GRCm39) |
F477L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,748 (GRCm39) |
E393G |
possibly damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,358 (GRCm39) |
L229H |
probably damaging |
Het |
| Or2at1 |
A |
G |
7: 99,416,540 (GRCm39) |
E57G |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,321 (GRCm39) |
K86R |
probably damaging |
Het |
| Pglyrp3 |
C |
T |
3: 91,921,944 (GRCm39) |
S4F |
possibly damaging |
Het |
| Pramel13 |
A |
T |
4: 144,121,322 (GRCm39) |
M234K |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,229 (GRCm39) |
|
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,753,549 (GRCm39) |
S51P |
probably damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,918,034 (GRCm39) |
Y592C |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,404 (GRCm39) |
V417D |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,160 (GRCm39) |
Y130H |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,118,953 (GRCm39) |
T5857A |
probably benign |
Het |
| Thap1 |
A |
C |
8: 26,650,885 (GRCm39) |
S52R |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,907,301 (GRCm39) |
N158S |
probably damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,626 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,521,483 (GRCm39) |
A311V |
probably benign |
Het |
| U2surp |
T |
A |
9: 95,372,273 (GRCm39) |
R296S |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,030,975 (GRCm39) |
D805G |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,382,630 (GRCm39) |
H2057Q |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,816,400 (GRCm39) |
D41V |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,703 (GRCm39) |
L192* |
probably null |
Het |
| Vnn3 |
T |
A |
10: 23,741,816 (GRCm39) |
S374T |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,942,184 (GRCm39) |
D1089E |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,193,459 (GRCm39) |
D1279V |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,831,123 (GRCm39) |
I294T |
possibly damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (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 |
|
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 |
|
R7045:Pcdhb6
|
UTSW |
18 |
37,469,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation