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: 0.101)
|
| Stock # |
R6747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23290934-23312313 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23309876 bp (GRCm38)
|
| 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: 122,126,313 (GRCm38) |
|
probably null |
Het |
| Acyp1 |
C |
T |
12: 85,278,905 (GRCm38) |
V107I |
probably null |
Het |
| Aftph |
T |
C |
11: 20,726,144 (GRCm38) |
|
probably null |
Het |
| Agtpbp1 |
A |
T |
13: 59,544,353 (GRCm38) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,116,677 (GRCm38) |
P269T |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,407,729 (GRCm38) |
V557A |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,081,493 (GRCm38) |
M410K |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,868,634 (GRCm38) |
|
probably null |
Het |
| Birc3 |
A |
G |
9: 7,860,261 (GRCm38) |
|
probably null |
Het |
| Cav2 |
A |
T |
6: 17,286,951 (GRCm38) |
N69Y |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,795,667 (GRCm38) |
C826Y |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,652,854 (GRCm38) |
T2410S |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,703,380 (GRCm38) |
D24G |
probably benign |
Het |
| Cmip |
G |
A |
8: 117,436,879 (GRCm38) |
G450S |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 114,212,450 (GRCm38) |
Q534* |
probably null |
Het |
| Col3a1 |
G |
T |
1: 45,338,622 (GRCm38) |
|
probably benign |
Het |
| Cox4i1 |
T |
C |
8: 120,673,230 (GRCm38) |
I31T |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,646,767 (GRCm38) |
V168F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,725,340 (GRCm38) |
I352T |
probably benign |
Het |
| Ddx52 |
T |
C |
11: 83,955,302 (GRCm38) |
V456A |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,416,088 (GRCm38) |
H1337Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,636,062 (GRCm38) |
T369A |
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,625,595 (GRCm38) |
I8F |
unknown |
Het |
| Ebf1 |
G |
T |
11: 44,883,814 (GRCm38) |
V213F |
probably damaging |
Het |
| Foxb2 |
C |
A |
19: 16,872,833 (GRCm38) |
E270* |
probably null |
Het |
| Gclc |
A |
T |
9: 77,788,245 (GRCm38) |
R450W |
probably damaging |
Het |
| Gm13128 |
T |
C |
4: 144,332,978 (GRCm38) |
W420R |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,862,268 (GRCm38) |
E251G |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,500,677 (GRCm38) |
N423Y |
probably damaging |
Het |
| Krtap4-8 |
T |
A |
11: 99,780,091 (GRCm38) |
I185F |
unknown |
Het |
| Lrp3 |
T |
A |
7: 35,211,437 (GRCm38) |
Q61L |
probably benign |
Het |
| Met |
A |
C |
6: 17,571,467 (GRCm38) |
Q1296H |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,297,699 (GRCm38) |
N557I |
possibly damaging |
Het |
| Mrpl46 |
C |
A |
7: 78,782,981 (GRCm38) |
W16C |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,350,419 (GRCm38) |
R874Q |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,203,381 (GRCm38) |
T453I |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,952,954 (GRCm38) |
D909G |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,882,344 (GRCm38) |
E431G |
possibly damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,591,724 (GRCm38) |
D149G |
probably benign |
Het |
| Olfr203 |
T |
C |
16: 59,303,641 (GRCm38) |
F164L |
probably benign |
Het |
| Olfr690 |
C |
T |
7: 105,330,027 (GRCm38) |
R55H |
probably benign |
Het |
| Pcbp4 |
C |
A |
9: 106,460,648 (GRCm38) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,757,137 (GRCm38) |
|
probably benign |
Het |
| Pms2 |
C |
T |
5: 143,925,419 (GRCm38) |
P154L |
probably benign |
Het |
| Pou6f2 |
A |
C |
13: 18,129,187 (GRCm38) |
L112R |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,465,046 (GRCm38) |
|
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,655,154 (GRCm38) |
R12W |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,078,263 (GRCm38) |
|
probably null |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,466,143 (GRCm38) |
S137P |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Homo |
| Sec23ip |
A |
G |
7: 128,752,849 (GRCm38) |
|
silent |
Het |
| Slc38a9 |
T |
C |
13: 112,690,180 (GRCm38) |
C151R |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,849,180 (GRCm38) |
|
probably null |
Het |
| Slc6a18 |
C |
A |
13: 73,677,991 (GRCm38) |
|
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,464,710 (GRCm38) |
D57G |
probably damaging |
Het |
| Sox6 |
C |
G |
7: 115,541,731 (GRCm38) |
R505P |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,410,395 (GRCm38) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 123,356,846 (GRCm38) |
R190C |
probably damaging |
Het |
| Stard9 |
A |
C |
2: 120,698,383 (GRCm38) |
H1707P |
possibly damaging |
Het |
| Tenm3 |
G |
T |
8: 48,343,243 (GRCm38) |
T237K |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,796,262 (GRCm38) |
E31V |
possibly damaging |
Het |
| Trim56 |
T |
G |
5: 137,114,521 (GRCm38) |
Q47P |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,651,264 (GRCm38) |
I350T |
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,944,056 (GRCm38) |
P639S |
probably benign |
Het |
| Ubxn6 |
A |
G |
17: 56,070,650 (GRCm38) |
|
probably null |
Het |
| Vmn2r29 |
T |
A |
7: 7,231,422 (GRCm38) |
M822L |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,254,007 (GRCm38) |
D27G |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,138,724 (GRCm38) |
R931Q |
probably damaging |
Het |
| Whamm |
G |
A |
7: 81,578,302 (GRCm38) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,757,033 (GRCm38) |
H142R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,894 (GRCm38) |
K2050R |
probably damaging |
Het |
|
| Other mutations in Vmn2r114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Vmn2r114
|
APN |
17 |
23,291,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,291,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,290,983 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,290,965 (GRCm38) |
missense |
probably benign |
|
|
IGL01838:Vmn2r114
|
APN |
17 |
23,296,982 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL01990:Vmn2r114
|
APN |
17 |
23,310,381 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01994:Vmn2r114
|
APN |
17 |
23,310,477 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02153:Vmn2r114
|
APN |
17 |
23,291,808 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02453:Vmn2r114
|
APN |
17 |
23,311,134 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02621:Vmn2r114
|
APN |
17 |
23,310,520 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02938:Vmn2r114
|
APN |
17 |
23,291,289 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL03130:Vmn2r114
|
APN |
17 |
23,296,996 (GRCm38) |
splice site |
probably benign |
|
|
IGL03325:Vmn2r114
|
APN |
17 |
23,291,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB004:Vmn2r114
|
UTSW |
17 |
23,291,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0109:Vmn2r114
|
UTSW |
17 |
23,310,575 (GRCm38) |
nonsense |
probably null |
|
|
R0164:Vmn2r114
|
UTSW |
17 |
23,309,826 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0310:Vmn2r114
|
UTSW |
17 |
23,290,943 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0583:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R0677:Vmn2r114
|
UTSW |
17 |
23,310,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1127:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R1147:Vmn2r114
|
UTSW |
17 |
23,311,063 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1147:Vmn2r114
|
UTSW |
17 |
23,311,063 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1157:Vmn2r114
|
UTSW |
17 |
23,310,340 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1323:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R1347:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R1435:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R1437:Vmn2r114
|
UTSW |
17 |
23,291,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1585:Vmn2r114
|
UTSW |
17 |
23,291,701 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1641:Vmn2r114
|
UTSW |
17 |
23,296,988 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1748:Vmn2r114
|
UTSW |
17 |
23,308,061 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1954:Vmn2r114
|
UTSW |
17 |
23,311,112 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2081:Vmn2r114
|
UTSW |
17 |
23,291,109 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2103:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R2113:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R2134:Vmn2r114
|
UTSW |
17 |
23,291,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2149:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R2424:Vmn2r114
|
UTSW |
17 |
23,296,868 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2847:Vmn2r114
|
UTSW |
17 |
23,290,974 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2848:Vmn2r114
|
UTSW |
17 |
23,290,974 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2893:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R3017:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R3018:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R3019:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R3020:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R3021:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R4628:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R4668:Vmn2r114
|
UTSW |
17 |
23,310,473 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4840:Vmn2r114
|
UTSW |
17 |
23,291,379 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4841:Vmn2r114
|
UTSW |
17 |
23,310,362 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4842:Vmn2r114
|
UTSW |
17 |
23,310,362 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4856:Vmn2r114
|
UTSW |
17 |
23,308,034 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4886:Vmn2r114
|
UTSW |
17 |
23,308,034 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4992:Vmn2r114
|
UTSW |
17 |
23,291,791 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5182:Vmn2r114
|
UTSW |
17 |
23,291,658 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5223:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R5405:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R5449:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R5615:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
makesense |
probably null |
|
|
R5834:Vmn2r114
|
UTSW |
17 |
23,310,625 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6150:Vmn2r114
|
UTSW |
17 |
23,291,295 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6277:Vmn2r114
|
UTSW |
17 |
23,290,980 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6403:Vmn2r114
|
UTSW |
17 |
23,309,965 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6589:Vmn2r114
|
UTSW |
17 |
23,291,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6613:Vmn2r114
|
UTSW |
17 |
23,310,246 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6837:Vmn2r114
|
UTSW |
17 |
23,310,202 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6911:Vmn2r114
|
UTSW |
17 |
23,291,130 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6950:Vmn2r114
|
UTSW |
17 |
23,310,163 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7276:Vmn2r114
|
UTSW |
17 |
23,290,960 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7482:Vmn2r114
|
UTSW |
17 |
23,291,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7514:Vmn2r114
|
UTSW |
17 |
23,308,061 (GRCm38) |
missense |
probably null |
0.96 |
|
R7523:Vmn2r114
|
UTSW |
17 |
23,310,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7563:Vmn2r114
|
UTSW |
17 |
23,291,026 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7585:Vmn2r114
|
UTSW |
17 |
23,291,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7593:Vmn2r114
|
UTSW |
17 |
23,291,843 (GRCm38) |
nonsense |
probably null |
|
|
R7611:Vmn2r114
|
UTSW |
17 |
23,296,970 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7641:Vmn2r114
|
UTSW |
17 |
23,308,203 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7651:Vmn2r114
|
UTSW |
17 |
23,291,012 (GRCm38) |
nonsense |
probably null |
|
|
R7970:Vmn2r114
|
UTSW |
17 |
23,311,212 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8737:Vmn2r114
|
UTSW |
17 |
23,310,168 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8802:Vmn2r114
|
UTSW |
17 |
23,309,862 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8847:Vmn2r114
|
UTSW |
17 |
23,310,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8991:Vmn2r114
|
UTSW |
17 |
23,310,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9138:Vmn2r114
|
UTSW |
17 |
23,291,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9173:Vmn2r114
|
UTSW |
17 |
23,291,553 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9175:Vmn2r114
|
UTSW |
17 |
23,308,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9657:Vmn2r114
|
UTSW |
17 |
23,291,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9670:Vmn2r114
|
UTSW |
17 |
23,312,124 (GRCm38) |
missense |
|
|
|
X0065:Vmn2r114
|
UTSW |
17 |
23,310,957 (GRCm38) |
missense |
probably benign |
0.34 |
|
Z1088:Vmn2r114
|
UTSW |
17 |
23,290,932 (GRCm38) |
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