Incidental Mutation 'R8841:Pcdhb8'
| ID |
674452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| MMRRC Submission |
068732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8841 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37488699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 126
(I126V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051163
AA Change: I126V
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: I126V
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,143,925 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
C |
T |
16: 93,701,908 (GRCm39) |
T510I |
probably benign |
Het |
| Chrd |
T |
A |
16: 20,554,487 (GRCm39) |
|
probably benign |
Het |
| Dennd2d |
A |
G |
3: 106,393,580 (GRCm39) |
Q11R |
probably benign |
Het |
| Dmrta1 |
A |
C |
4: 89,579,950 (GRCm39) |
R303S |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,264,768 (GRCm39) |
I543T |
possibly damaging |
Het |
| Fbxw2 |
G |
A |
2: 34,712,844 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,992,181 (GRCm39) |
V505A |
unknown |
Het |
| Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,972 (GRCm39) |
V773A |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,794,426 (GRCm39) |
E298G |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,653,555 (GRCm39) |
P77T |
probably damaging |
Het |
| Gpam |
C |
A |
19: 55,066,950 (GRCm39) |
D522Y |
probably damaging |
Het |
| Hpgd |
T |
A |
8: 56,760,709 (GRCm39) |
N135K |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,550,789 (GRCm39) |
R437W |
probably damaging |
Het |
| Kif1c |
G |
A |
11: 70,615,659 (GRCm39) |
V588I |
probably benign |
Het |
| Klhdc4 |
T |
A |
8: 122,523,380 (GRCm39) |
E554V |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,754,970 (GRCm39) |
D82G |
probably benign |
Het |
| Lin7a |
A |
G |
10: 107,218,524 (GRCm39) |
R145G |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,391,920 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,628,188 (GRCm39) |
V178A |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,152,037 (GRCm39) |
R647G |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,201,203 (GRCm39) |
E153G |
probably damaging |
Het |
| Mefv |
C |
T |
16: 3,528,842 (GRCm39) |
C563Y |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,097,490 (GRCm39) |
N1792S |
probably benign |
Het |
| Nkx6-3 |
C |
T |
8: 23,646,274 (GRCm39) |
T148M |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,707,911 (GRCm39) |
S573T |
probably benign |
Het |
| Ntrk3 |
G |
T |
7: 78,005,841 (GRCm39) |
R507S |
probably damaging |
Het |
| Or2v2 |
A |
C |
11: 49,003,938 (GRCm39) |
I205S |
probably benign |
Het |
| Or4k15 |
T |
A |
14: 50,364,666 (GRCm39) |
F211I |
probably damaging |
Het |
| Or52e5 |
T |
A |
7: 104,719,479 (GRCm39) |
N268K |
possibly damaging |
Het |
| Or6c200-ps1 |
A |
G |
10: 128,870,042 (GRCm39) |
V223A |
probably benign |
Het |
| Or7e168 |
A |
T |
9: 19,719,885 (GRCm39) |
R90S |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,905,879 (GRCm39) |
M284T |
possibly damaging |
Het |
| Phactr4 |
A |
G |
4: 132,092,884 (GRCm39) |
|
probably null |
Het |
| Pign |
T |
C |
1: 105,485,634 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,316,655 (GRCm39) |
L342P |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,476,407 (GRCm39) |
A49V |
probably benign |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Ralgps1 |
A |
C |
2: 33,045,329 (GRCm39) |
F406L |
probably benign |
Het |
| Rexo5 |
G |
A |
7: 119,448,011 (GRCm39) |
S752N |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,537 (GRCm39) |
I483L |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,156,466 (GRCm39) |
D481V |
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,320,208 (GRCm39) |
I554T |
probably damaging |
Het |
| Shc2 |
A |
G |
10: 79,458,150 (GRCm39) |
V511A |
probably damaging |
Het |
| Slc18a2 |
C |
T |
19: 59,261,713 (GRCm39) |
S200F |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,845 (GRCm39) |
D208G |
probably damaging |
Het |
| Smok3c |
C |
A |
5: 138,063,537 (GRCm39) |
D341E |
probably damaging |
Het |
| Tfcp2 |
A |
G |
15: 100,410,989 (GRCm39) |
I373T |
probably damaging |
Het |
| Tnpo3 |
T |
A |
6: 29,589,182 (GRCm39) |
D56V |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,465,993 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,033,804 (GRCm39) |
C612R |
probably damaging |
Het |
| Ush1g |
G |
T |
11: 115,210,007 (GRCm39) |
D62E |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,299 (GRCm39) |
N331S |
|
Het |
| Vmn2r4 |
T |
C |
3: 64,314,058 (GRCm39) |
I308V |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,184,702 (GRCm39) |
V400E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,235,916 (GRCm39) |
D1129G |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,206,971 (GRCm39) |
Q1101K |
probably damaging |
Het |
| Wfdc17 |
G |
T |
11: 83,594,938 (GRCm39) |
L7F |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,835,413 (GRCm39) |
K636R |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,454,936 (GRCm39) |
T1367S |
unknown |
Het |
| Zfp691 |
A |
T |
4: 119,027,861 (GRCm39) |
S124T |
probably damaging |
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 |
|
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'- TTGGGGAACTGACCACTAGAGG -3'
(R):5'- CTGTCATCTGAGCGACTGAGAG -3'
Sequencing Primer
(F):5'- CTAGAGGGGCACGAATCCATC -3'
(R):5'- TCATCTGAGCGACTGAGAGTAACG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation