Incidental Mutation 'R5624:Vmn2r8'
| ID |
441727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r8
|
| Ensembl Gene |
ENSMUSG00000090961 |
| Gene Name |
vomeronasal 2, receptor 8 |
| Synonyms |
EG627479 |
| MMRRC Submission |
043163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108945059-108956620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108950325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 174
(H174L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172140]
|
| AlphaFold |
L7N472 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172140
AA Change: H174L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126953
Gene: ENSMUSG00000090961
AA Change: H174L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
78 |
419 |
1.1e-28 |
PFAM |
|
Pfam:NCD3G
|
507 |
561 |
8.2e-18 |
PFAM |
|
Pfam:7tm_3
|
594 |
829 |
1.1e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
A |
8: 120,341,844 (GRCm39) |
|
probably null |
Het |
| Aoah |
A |
T |
13: 21,179,649 (GRCm39) |
N372I |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,916 (GRCm39) |
D1598E |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,080,577 (GRCm39) |
C72R |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,509,146 (GRCm39) |
F238Y |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,749 (GRCm39) |
S97G |
probably benign |
Het |
| Cfap52 |
C |
G |
11: 67,818,184 (GRCm39) |
C509S |
possibly damaging |
Het |
| Clcn4 |
C |
A |
7: 7,291,943 (GRCm39) |
V623L |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,063,967 (GRCm39) |
V483A |
probably benign |
Het |
| E2f8 |
G |
T |
7: 48,527,709 (GRCm39) |
D144E |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,375,691 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,268 (GRCm39) |
G117S |
unknown |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,503 (GRCm39) |
M379T |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,208,727 (GRCm39) |
R157G |
probably benign |
Het |
| Il10 |
A |
G |
1: 130,951,940 (GRCm39) |
M158V |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,069,193 (GRCm39) |
M1656I |
probably damaging |
Het |
| Kit |
A |
T |
5: 75,770,054 (GRCm39) |
K155N |
probably benign |
Het |
| Lmtk3 |
C |
A |
7: 45,436,286 (GRCm39) |
A114E |
probably damaging |
Het |
| Lztr1 |
A |
G |
16: 17,329,993 (GRCm39) |
|
probably benign |
Het |
| Mras |
A |
G |
9: 99,293,538 (GRCm39) |
F34S |
probably damaging |
Het |
| Myo1c |
A |
G |
11: 75,553,461 (GRCm39) |
T516A |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,038 (GRCm39) |
V197G |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,568 (GRCm39) |
Y281N |
probably damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,149 (GRCm39) |
D269G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,459 (GRCm39) |
Y151F |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,488,262 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,107,382 (GRCm39) |
F892S |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,082 (GRCm39) |
F62I |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,523 (GRCm39) |
Y1999C |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,809 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Slc6a16 |
T |
G |
7: 44,910,532 (GRCm39) |
H352Q |
probably benign |
Het |
| Snx9 |
T |
A |
17: 5,942,084 (GRCm39) |
C70* |
probably null |
Het |
| Srprb |
A |
G |
9: 103,074,800 (GRCm39) |
I114T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,178,114 (GRCm39) |
I227F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,996 (GRCm39) |
S604P |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,709,906 (GRCm39) |
Y163F |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,512,784 (GRCm39) |
T211A |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,710 (GRCm39) |
S83G |
probably benign |
Het |
| Trav9-4 |
T |
C |
14: 53,913,886 (GRCm39) |
S47P |
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,259,270 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zfp106 |
C |
G |
2: 120,362,438 (GRCm39) |
A34P |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,344 (GRCm39) |
N865K |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,233,518 (GRCm39) |
D114G |
probably benign |
Het |
|
| Other mutations in Vmn2r8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02957:Vmn2r8
|
APN |
5 |
108,950,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0324:Vmn2r8
|
UTSW |
5 |
108,945,807 (GRCm39) |
splice site |
probably null |
|
|
R0335:Vmn2r8
|
UTSW |
5 |
108,945,317 (GRCm39) |
splice site |
probably null |
|
|
R0394:Vmn2r8
|
UTSW |
5 |
108,949,938 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0501:Vmn2r8
|
UTSW |
5 |
108,951,049 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0615:Vmn2r8
|
UTSW |
5 |
108,947,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0678:Vmn2r8
|
UTSW |
5 |
108,948,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1167:Vmn2r8
|
UTSW |
5 |
108,951,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1187:Vmn2r8
|
UTSW |
5 |
108,951,085 (GRCm39) |
nonsense |
probably null |
|
|
R1406:Vmn2r8
|
UTSW |
5 |
108,950,234 (GRCm39) |
missense |
probably benign |
|
|
R1406:Vmn2r8
|
UTSW |
5 |
108,950,234 (GRCm39) |
missense |
probably benign |
|
|
R1451:Vmn2r8
|
UTSW |
5 |
108,945,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Vmn2r8
|
UTSW |
5 |
108,950,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Vmn2r8
|
UTSW |
5 |
108,950,972 (GRCm39) |
missense |
probably benign |
|
|
R1874:Vmn2r8
|
UTSW |
5 |
108,950,284 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1908:Vmn2r8
|
UTSW |
5 |
108,945,436 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1925:Vmn2r8
|
UTSW |
5 |
108,950,019 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1960:Vmn2r8
|
UTSW |
5 |
108,947,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Vmn2r8
|
UTSW |
5 |
108,945,961 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1967:Vmn2r8
|
UTSW |
5 |
108,950,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2095:Vmn2r8
|
UTSW |
5 |
108,956,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2159:Vmn2r8
|
UTSW |
5 |
108,950,169 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4240:Vmn2r8
|
UTSW |
5 |
108,945,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4581:Vmn2r8
|
UTSW |
5 |
108,949,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4744:Vmn2r8
|
UTSW |
5 |
108,956,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4755:Vmn2r8
|
UTSW |
5 |
108,949,566 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4917:Vmn2r8
|
UTSW |
5 |
108,945,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Vmn2r8
|
UTSW |
5 |
108,947,129 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5141:Vmn2r8
|
UTSW |
5 |
108,956,572 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5481:Vmn2r8
|
UTSW |
5 |
108,949,636 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5571:Vmn2r8
|
UTSW |
5 |
108,950,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Vmn2r8
|
UTSW |
5 |
108,945,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Vmn2r8
|
UTSW |
5 |
108,947,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6265:Vmn2r8
|
UTSW |
5 |
108,956,463 (GRCm39) |
missense |
probably benign |
|
|
R6315:Vmn2r8
|
UTSW |
5 |
108,949,757 (GRCm39) |
missense |
probably benign |
|
|
R6413:Vmn2r8
|
UTSW |
5 |
108,949,589 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7120:Vmn2r8
|
UTSW |
5 |
108,956,504 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7406:Vmn2r8
|
UTSW |
5 |
108,948,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7409:Vmn2r8
|
UTSW |
5 |
108,956,449 (GRCm39) |
nonsense |
probably null |
|
|
R7489:Vmn2r8
|
UTSW |
5 |
108,945,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7532:Vmn2r8
|
UTSW |
5 |
108,950,106 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7534:Vmn2r8
|
UTSW |
5 |
108,950,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7739:Vmn2r8
|
UTSW |
5 |
108,950,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Vmn2r8
|
UTSW |
5 |
108,949,700 (GRCm39) |
missense |
probably benign |
|
|
R8245:Vmn2r8
|
UTSW |
5 |
108,945,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Vmn2r8
|
UTSW |
5 |
108,945,962 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8781:Vmn2r8
|
UTSW |
5 |
108,945,597 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8874:Vmn2r8
|
UTSW |
5 |
108,956,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Vmn2r8
|
UTSW |
5 |
108,950,131 (GRCm39) |
missense |
|
|
|
R8928:Vmn2r8
|
UTSW |
5 |
108,950,131 (GRCm39) |
missense |
|
|
|
R9288:Vmn2r8
|
UTSW |
5 |
108,950,185 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9596:Vmn2r8
|
UTSW |
5 |
108,947,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9652:Vmn2r8
|
UTSW |
5 |
108,951,107 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1088:Vmn2r8
|
UTSW |
5 |
108,949,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAACAGATTCCATGTCTTTGC -3'
(R):5'- ATTCAGACTTCTCAGGGATACTCTAG -3'
Sequencing Primer
(F):5'- AACAGATTCCATGTCTTTGCATTTC -3'
(R):5'- TCAGGGATACTCTAGACTCTAATAGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation