Incidental Mutation 'IGL02882:Pcdhb8'
| ID |
362834 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02882
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37489276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 318
(I318N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051163
AA Change: I318N
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: I318N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
6.6e-33 |
PFAM |
|
CA
|
155 |
240 |
7.79e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.14e-23 |
SMART |
|
CA
|
472 |
558 |
9.51e-26 |
SMART |
|
CA
|
588 |
669 |
5.65e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
1.1e-27 |
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: ENSMUST00000192867
|
| SMART Domains |
Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
26 |
104 |
7e-18 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,188,786 (GRCm39) |
L469* |
probably null |
Het |
| Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
| Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
| Enpp6 |
T |
C |
8: 47,483,567 (GRCm39) |
S120P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,094,115 (GRCm39) |
I459T |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,325 (GRCm39) |
V264A |
probably benign |
Het |
| Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
| Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
| Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
| Plekhd1 |
G |
A |
12: 80,765,781 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
| Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,221,104 (GRCm39) |
N456D |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
Het |
|
| Other mutations in Pcdhb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Pcdhb8
|
APN |
18 |
37,488,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00574:Pcdhb8
|
APN |
18 |
37,489,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00960:Pcdhb8
|
APN |
18 |
37,489,026 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01103:Pcdhb8
|
APN |
18 |
37,490,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Pcdhb8
|
APN |
18 |
37,490,631 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01413:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Pcdhb8
|
APN |
18 |
37,489,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Pcdhb8
|
APN |
18 |
37,489,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02582:Pcdhb8
|
APN |
18 |
37,488,427 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02607:Pcdhb8
|
APN |
18 |
37,490,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03005:Pcdhb8
|
APN |
18 |
37,490,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Pcdhb8
|
APN |
18 |
37,490,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Pcdhb8
|
UTSW |
18 |
37,489,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Pcdhb8
|
UTSW |
18 |
37,488,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0490:Pcdhb8
|
UTSW |
18 |
37,489,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Pcdhb8
|
UTSW |
18 |
37,490,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1168:Pcdhb8
|
UTSW |
18 |
37,489,780 (GRCm39) |
missense |
probably benign |
|
|
R1189:Pcdhb8
|
UTSW |
18 |
37,489,620 (GRCm39) |
nonsense |
probably null |
|
|
R1232:Pcdhb8
|
UTSW |
18 |
37,488,828 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1503:Pcdhb8
|
UTSW |
18 |
37,489,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Pcdhb8
|
UTSW |
18 |
37,489,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Pcdhb8
|
UTSW |
18 |
37,488,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1909:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2215:Pcdhb8
|
UTSW |
18 |
37,490,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3080:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Pcdhb8
|
UTSW |
18 |
37,489,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Pcdhb8
|
UTSW |
18 |
37,488,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Pcdhb8
|
UTSW |
18 |
37,489,771 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4879:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Pcdhb8
|
UTSW |
18 |
37,489,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5086:Pcdhb8
|
UTSW |
18 |
37,489,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Pcdhb8
|
UTSW |
18 |
37,490,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Pcdhb8
|
UTSW |
18 |
37,489,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Pcdhb8
|
UTSW |
18 |
37,490,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5935:Pcdhb8
|
UTSW |
18 |
37,489,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Pcdhb8
|
UTSW |
18 |
37,489,279 (GRCm39) |
missense |
probably benign |
|
|
R6228:Pcdhb8
|
UTSW |
18 |
37,490,037 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6245:Pcdhb8
|
UTSW |
18 |
37,490,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6397:Pcdhb8
|
UTSW |
18 |
37,488,516 (GRCm39) |
nonsense |
probably null |
|
|
R7469:Pcdhb8
|
UTSW |
18 |
37,489,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Pcdhb8
|
UTSW |
18 |
37,488,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Pcdhb8
|
UTSW |
18 |
37,488,476 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8735:Pcdhb8
|
UTSW |
18 |
37,489,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8841:Pcdhb8
|
UTSW |
18 |
37,488,699 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8856:Pcdhb8
|
UTSW |
18 |
37,489,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9020:Pcdhb8
|
UTSW |
18 |
37,489,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Pcdhb8
|
UTSW |
18 |
37,490,585 (GRCm39) |
nonsense |
probably null |
|
|
R9077:Pcdhb8
|
UTSW |
18 |
37,489,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9387:Pcdhb8
|
UTSW |
18 |
37,488,751 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation