Incidental Mutation 'R9077:Pcdhb8'
| ID |
689873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| MMRRC Submission |
068898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37489414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 23
(V23A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051163
AA Change: V364A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: V364A
| 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 damaging
Transcript: ENSMUST00000192867
AA Change: V23A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
AA Change: V23A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Alkbh3 |
A |
G |
2: 93,811,925 (GRCm39) |
V235A |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,706,721 (GRCm39) |
I982V |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,500,899 (GRCm39) |
D1117G |
possibly damaging |
Het |
| Arhgap31 |
G |
T |
16: 38,422,730 (GRCm39) |
A1112D |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,824 (GRCm39) |
C27R |
unknown |
Het |
| Bzw1 |
T |
A |
1: 58,438,190 (GRCm39) |
M90K |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,068,277 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,827,511 (GRCm39) |
I459V |
probably benign |
Het |
| Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,516,431 (GRCm39) |
D173G |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,121,029 (GRCm39) |
C1488* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,741,218 (GRCm39) |
K13E |
unknown |
Het |
| Eif3f |
A |
G |
7: 108,539,425 (GRCm39) |
M232V |
probably benign |
Het |
| Gk5 |
C |
A |
9: 96,001,634 (GRCm39) |
T44K |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,763,217 (GRCm39) |
F260S |
probably damaging |
Het |
| Glyctk |
C |
A |
9: 106,032,522 (GRCm39) |
R497L |
probably benign |
Het |
| Gm10153 |
G |
T |
7: 141,743,383 (GRCm39) |
C248* |
probably null |
Het |
| Hand2 |
A |
G |
8: 57,776,836 (GRCm39) |
K199E |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,428,247 (GRCm39) |
C795S |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,670,361 (GRCm39) |
I342M |
probably benign |
Het |
| Itm2b |
G |
T |
14: 73,605,865 (GRCm39) |
D40E |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,927,552 (GRCm39) |
T371A |
probably damaging |
Het |
| Lctl |
C |
A |
9: 64,039,241 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,591,747 (GRCm39) |
P827S |
|
Het |
| Lyst |
T |
C |
13: 13,857,693 (GRCm39) |
I2494T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,226,760 (GRCm39) |
N510S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,469,974 (GRCm39) |
D1308G |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,548 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
G |
A |
7: 139,980,809 (GRCm39) |
P50L |
probably benign |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or56b1 |
A |
G |
7: 104,285,618 (GRCm39) |
T246A |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,148,856 (GRCm39) |
Y490C |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,160,772 (GRCm39) |
E295G |
probably damaging |
Het |
| Phactr3 |
A |
T |
2: 177,974,758 (GRCm39) |
|
probably benign |
Het |
| Pip |
G |
A |
6: 41,828,388 (GRCm39) |
S74N |
probably damaging |
Het |
| Plau |
G |
A |
14: 20,889,949 (GRCm39) |
E265K |
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,807,865 (GRCm39) |
D230N |
probably damaging |
Het |
| Siglec15 |
A |
G |
18: 78,091,983 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Spag16 |
T |
A |
1: 70,532,930 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
T |
1: 174,045,170 (GRCm39) |
D1506Y |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,635,711 (GRCm39) |
Y305F |
probably benign |
Het |
| Tcstv7a |
T |
C |
13: 120,289,885 (GRCm39) |
M104V |
probably benign |
Het |
| Vmn1r83 |
G |
A |
7: 12,055,571 (GRCm39) |
T162M |
probably damaging |
Het |
| Vmn2r116 |
G |
T |
17: 23,604,956 (GRCm39) |
D90Y |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,364,608 (GRCm39) |
N304S |
probably benign |
Het |
| Wee1 |
G |
A |
7: 109,725,963 (GRCm39) |
V358I |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,401,468 (GRCm39) |
P4084S |
unknown |
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 |
|
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 |
|
|
R9387:Pcdhb8
|
UTSW |
18 |
37,488,751 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTGGATTTTGAAGCAACTTC -3'
(R):5'- CGGACACTTGCACTGTTATGG -3'
Sequencing Primer
(F):5'- GAAGCAACTTCATACTATACCATGG -3'
(R):5'- TGTGCCCAGGTCAGAGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation