Incidental Mutation 'R6747:Vmn2r114'
| ID |
530617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r114
|
| Ensembl Gene |
ENSMUSG00000091945 |
| Gene Name |
vomeronasal 2, receptor 114 |
| Synonyms |
EG666002 |
| MMRRC Submission |
044864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23509908-23531287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23528850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 417
(F417L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168033]
|
| AlphaFold |
E9Q281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168033
AA Change: F417L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127505
Gene: ENSMUSG00000091945
AA Change: F417L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
154 |
470 |
1.5e-24 |
PFAM |
|
Pfam:NCD3G
|
511 |
564 |
1.5e-18 |
PFAM |
|
Pfam:7tm_3
|
597 |
832 |
1.4e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,919,962 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
C |
T |
12: 85,325,679 (GRCm39) |
V107I |
probably null |
Het |
| Aftph |
T |
C |
11: 20,676,144 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
A |
T |
13: 59,692,167 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,006,689 (GRCm39) |
P269T |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,235,297 (GRCm39) |
V557A |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,493 (GRCm39) |
M410K |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,759,460 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,860,262 (GRCm39) |
|
probably null |
Het |
| Cav2 |
A |
T |
6: 17,286,950 (GRCm39) |
N69Y |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,111 (GRCm39) |
C826Y |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,385,051 (GRCm39) |
T2410S |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,448 (GRCm39) |
D24G |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,163,618 (GRCm39) |
G450S |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 114,006,099 (GRCm39) |
Q534* |
probably null |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Cox4i1 |
T |
C |
8: 121,399,969 (GRCm39) |
I31T |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,477,112 (GRCm39) |
V168F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,873,154 (GRCm39) |
I352T |
probably benign |
Het |
| Ddx52 |
T |
C |
11: 83,846,128 (GRCm39) |
V456A |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,372 (GRCm39) |
H1337Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,675,221 (GRCm39) |
T369A |
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,516,422 (GRCm39) |
I8F |
unknown |
Het |
| Ebf1 |
G |
T |
11: 44,774,641 (GRCm39) |
V213F |
probably damaging |
Het |
| Foxb2 |
C |
A |
19: 16,850,197 (GRCm39) |
E270* |
probably null |
Het |
| Gclc |
A |
T |
9: 77,695,527 (GRCm39) |
R450W |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,511,692 (GRCm39) |
E251G |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,336,539 (GRCm39) |
N423Y |
probably damaging |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,917 (GRCm39) |
I185F |
unknown |
Het |
| Lrp3 |
T |
A |
7: 34,910,862 (GRCm39) |
Q61L |
probably benign |
Het |
| Met |
A |
C |
6: 17,571,466 (GRCm39) |
Q1296H |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,435,762 (GRCm39) |
N557I |
possibly damaging |
Het |
| Mrpl46 |
C |
A |
7: 78,432,729 (GRCm39) |
W16C |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,241,245 (GRCm39) |
R874Q |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,093,393 (GRCm39) |
T453I |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,843,780 (GRCm39) |
D909G |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,810,082 (GRCm39) |
E431G |
possibly damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,463,573 (GRCm39) |
D149G |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,979,234 (GRCm39) |
R55H |
probably benign |
Het |
| Or5ac21 |
T |
C |
16: 59,124,004 (GRCm39) |
F164L |
probably benign |
Het |
| Pcbp4 |
C |
A |
9: 106,337,847 (GRCm39) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,757,137 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
C |
T |
5: 143,862,237 (GRCm39) |
P154L |
probably benign |
Het |
| Pou6f2 |
A |
C |
13: 18,303,772 (GRCm39) |
L112R |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,059,548 (GRCm39) |
W420R |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,598,118 (GRCm39) |
|
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,788,207 (GRCm39) |
R12W |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,968,275 (GRCm39) |
|
probably null |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,543 (GRCm39) |
S137P |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sec23ip |
A |
G |
7: 128,354,573 (GRCm39) |
|
silent |
Het |
| Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,554,941 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
C |
A |
13: 73,826,110 (GRCm39) |
|
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,511,480 (GRCm39) |
D57G |
probably damaging |
Het |
| Sox6 |
C |
G |
7: 115,140,966 (GRCm39) |
R505P |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,387,039 (GRCm39) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 124,083,585 (GRCm39) |
R190C |
probably damaging |
Het |
| Stard9 |
A |
C |
2: 120,528,864 (GRCm39) |
H1707P |
possibly damaging |
Het |
| Tenm3 |
G |
T |
8: 48,796,278 (GRCm39) |
T237K |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,523,573 (GRCm39) |
E31V |
possibly damaging |
Het |
| Trim56 |
T |
G |
5: 137,143,375 (GRCm39) |
Q47P |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,090 (GRCm39) |
I350T |
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,649,811 (GRCm39) |
P639S |
probably benign |
Het |
| Ubxn6 |
A |
G |
17: 56,377,650 (GRCm39) |
|
probably null |
Het |
| Vmn2r29 |
T |
A |
7: 7,234,421 (GRCm39) |
M822L |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,746 (GRCm39) |
D27G |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,046,040 (GRCm39) |
R931Q |
probably damaging |
Het |
| Whamm |
G |
A |
7: 81,228,050 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,757,457 (GRCm39) |
H142R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,894 (GRCm39) |
K2050R |
probably damaging |
Het |
|
| Other mutations in Vmn2r114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Vmn2r114
|
APN |
17 |
23,510,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,510,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,509,957 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,509,939 (GRCm39) |
missense |
probably benign |
|
|
IGL01838:Vmn2r114
|
APN |
17 |
23,515,956 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01990:Vmn2r114
|
APN |
17 |
23,529,355 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01994:Vmn2r114
|
APN |
17 |
23,529,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Vmn2r114
|
APN |
17 |
23,510,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02453:Vmn2r114
|
APN |
17 |
23,530,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02621:Vmn2r114
|
APN |
17 |
23,529,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02938:Vmn2r114
|
APN |
17 |
23,510,263 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03130:Vmn2r114
|
APN |
17 |
23,515,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL03325:Vmn2r114
|
APN |
17 |
23,510,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Vmn2r114
|
UTSW |
17 |
23,510,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Vmn2r114
|
UTSW |
17 |
23,529,549 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Vmn2r114
|
UTSW |
17 |
23,528,800 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0310:Vmn2r114
|
UTSW |
17 |
23,509,917 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0583:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R0677:Vmn2r114
|
UTSW |
17 |
23,529,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1147:Vmn2r114
|
UTSW |
17 |
23,530,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1147:Vmn2r114
|
UTSW |
17 |
23,530,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1157:Vmn2r114
|
UTSW |
17 |
23,529,314 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1323:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1347:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1435:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1437:Vmn2r114
|
UTSW |
17 |
23,510,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Vmn2r114
|
UTSW |
17 |
23,510,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1641:Vmn2r114
|
UTSW |
17 |
23,515,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1748:Vmn2r114
|
UTSW |
17 |
23,527,035 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1954:Vmn2r114
|
UTSW |
17 |
23,530,086 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2081:Vmn2r114
|
UTSW |
17 |
23,510,083 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2103:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R2113:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R2134:Vmn2r114
|
UTSW |
17 |
23,510,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R2424:Vmn2r114
|
UTSW |
17 |
23,515,842 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2847:Vmn2r114
|
UTSW |
17 |
23,509,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2848:Vmn2r114
|
UTSW |
17 |
23,509,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2893:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3017:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3018:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3019:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3020:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3021:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R4628:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R4668:Vmn2r114
|
UTSW |
17 |
23,529,447 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4840:Vmn2r114
|
UTSW |
17 |
23,510,353 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4841:Vmn2r114
|
UTSW |
17 |
23,529,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4842:Vmn2r114
|
UTSW |
17 |
23,529,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4856:Vmn2r114
|
UTSW |
17 |
23,527,008 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4886:Vmn2r114
|
UTSW |
17 |
23,527,008 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4992:Vmn2r114
|
UTSW |
17 |
23,510,765 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5182:Vmn2r114
|
UTSW |
17 |
23,510,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5223:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5405:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5449:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5615:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5834:Vmn2r114
|
UTSW |
17 |
23,529,599 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6150:Vmn2r114
|
UTSW |
17 |
23,510,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6277:Vmn2r114
|
UTSW |
17 |
23,509,954 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6403:Vmn2r114
|
UTSW |
17 |
23,528,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6589:Vmn2r114
|
UTSW |
17 |
23,510,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Vmn2r114
|
UTSW |
17 |
23,529,220 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6837:Vmn2r114
|
UTSW |
17 |
23,529,176 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6911:Vmn2r114
|
UTSW |
17 |
23,510,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6950:Vmn2r114
|
UTSW |
17 |
23,529,137 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7276:Vmn2r114
|
UTSW |
17 |
23,509,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7482:Vmn2r114
|
UTSW |
17 |
23,510,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Vmn2r114
|
UTSW |
17 |
23,527,035 (GRCm39) |
missense |
probably null |
0.96 |
|
R7523:Vmn2r114
|
UTSW |
17 |
23,529,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7563:Vmn2r114
|
UTSW |
17 |
23,510,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Vmn2r114
|
UTSW |
17 |
23,510,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Vmn2r114
|
UTSW |
17 |
23,510,817 (GRCm39) |
nonsense |
probably null |
|
|
R7611:Vmn2r114
|
UTSW |
17 |
23,515,944 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7641:Vmn2r114
|
UTSW |
17 |
23,527,177 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7651:Vmn2r114
|
UTSW |
17 |
23,509,986 (GRCm39) |
nonsense |
probably null |
|
|
R7970:Vmn2r114
|
UTSW |
17 |
23,530,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8737:Vmn2r114
|
UTSW |
17 |
23,529,142 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8802:Vmn2r114
|
UTSW |
17 |
23,528,836 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8847:Vmn2r114
|
UTSW |
17 |
23,528,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8991:Vmn2r114
|
UTSW |
17 |
23,529,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Vmn2r114
|
UTSW |
17 |
23,510,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9173:Vmn2r114
|
UTSW |
17 |
23,510,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9175:Vmn2r114
|
UTSW |
17 |
23,527,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Vmn2r114
|
UTSW |
17 |
23,510,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9670:Vmn2r114
|
UTSW |
17 |
23,531,098 (GRCm39) |
missense |
|
|
|
X0065:Vmn2r114
|
UTSW |
17 |
23,529,931 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1088:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTACATGGACAGATTATGC -3'
(R):5'- CTTTAACTGTGAGGTCTCAGCC -3'
Sequencing Primer
(F):5'- CACACTTGGTTGGGCAT -3'
(R):5'- GGTCTCAGCCTCTAAATGTAAGAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation