Incidental Mutation 'R1576:Pcdhb8'
| ID |
171192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| MMRRC Submission |
039614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37489756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 478
(D478G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051163
AA Change: D478G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: D478G
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
| Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
| Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
| Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
| Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
| Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
| Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
| Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
| Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
| Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAGCAACGCTGAGTACAACATC -3'
(R):5'- GCATTGTCATTGTCATCCAGCACC -3'
Sequencing Primer
(F):5'- TCACAATCACGGTCTCTGAC -3'
(R):5'- AGAGCCTCTGAGCTGAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation