Incidental Mutation 'IGL02582:Pcdhb8'
| ID |
299369 |
| 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 # |
IGL02582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37488427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 35
(M35R)
|
| 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: M35R
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: M35R
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
A |
9: 53,506,045 (GRCm39) |
I92F |
probably benign |
Het |
| Actr3b |
A |
G |
5: 26,037,411 (GRCm39) |
I208V |
probably benign |
Het |
| Car12 |
T |
C |
9: 66,621,159 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc171 |
C |
A |
4: 83,661,255 (GRCm39) |
R1122S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,539 (GRCm39) |
V136A |
probably damaging |
Het |
| Cilp2 |
G |
T |
8: 70,333,936 (GRCm39) |
Q1021K |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,020,247 (GRCm39) |
T206N |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,141 (GRCm39) |
I2328K |
possibly damaging |
Het |
| Ctns |
A |
G |
11: 73,087,478 (GRCm39) |
F16S |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,172 (GRCm39) |
K276E |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,294,840 (GRCm39) |
Q118L |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,773,819 (GRCm39) |
L10P |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,364,988 (GRCm39) |
|
probably null |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fam180a |
G |
T |
6: 35,290,647 (GRCm39) |
A112E |
possibly damaging |
Het |
| Fam3b |
A |
T |
16: 97,272,391 (GRCm39) |
Y89* |
probably null |
Het |
| Gcg |
C |
T |
2: 62,308,922 (GRCm39) |
W77* |
probably null |
Het |
| Gm17472 |
G |
A |
6: 42,957,832 (GRCm39) |
V34I |
possibly damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,758,756 (GRCm39) |
I279F |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,764,701 (GRCm39) |
I375N |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,937,997 (GRCm39) |
I206N |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,821,133 (GRCm39) |
E456G |
possibly damaging |
Het |
| Nat8 |
G |
A |
6: 85,807,783 (GRCm39) |
Q117* |
probably null |
Het |
| Nlrp4g |
A |
C |
9: 124,349,764 (GRCm38) |
|
noncoding transcript |
Het |
| Nmt1 |
G |
T |
11: 102,955,625 (GRCm39) |
G468C |
possibly damaging |
Het |
| Nobox |
G |
T |
6: 43,281,973 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,479,470 (GRCm39) |
*428W |
probably null |
Het |
| Or12j4 |
T |
C |
7: 140,046,560 (GRCm39) |
F149L |
probably benign |
Het |
| Or4c126 |
G |
A |
2: 89,824,656 (GRCm39) |
M306I |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,147 (GRCm39) |
I67V |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,817,664 (GRCm39) |
E157G |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,015,747 (GRCm39) |
L560F |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,865,361 (GRCm39) |
R1446S |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,860 (GRCm39) |
T1137A |
probably benign |
Het |
| Sec22c |
T |
C |
9: 121,514,630 (GRCm39) |
I153V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,949,155 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,721 (GRCm39) |
S290P |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,212,612 (GRCm39) |
L261V |
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,668,321 (GRCm39) |
|
probably null |
Het |
| Themis |
T |
C |
10: 28,637,543 (GRCm39) |
F216L |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,309,536 (GRCm39) |
|
probably benign |
Het |
| Usp17lb |
C |
A |
7: 104,489,937 (GRCm39) |
C330F |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,724 (GRCm39) |
L355H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,653,341 (GRCm39) |
C82S |
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 |
|
IGL02607:Pcdhb8
|
APN |
18 |
37,490,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02882:Pcdhb8
|
APN |
18 |
37,489,276 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation