Incidental Mutation 'R4992:Vmn2r114'
| ID |
386306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r114
|
| Ensembl Gene |
ENSMUSG00000091945 |
| Gene Name |
vomeronasal 2, receptor 114 |
| Synonyms |
EG666002 |
| MMRRC Submission |
042586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R4992 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23509908-23531287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23510765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 572
(I572L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168033]
|
| AlphaFold |
E9Q281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168033
AA Change: I572L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127505
Gene: ENSMUSG00000091945
AA Change: I572L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
98% (84/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
A |
15: 81,948,203 (GRCm39) |
R700Q |
possibly damaging |
Het |
| 4930444P10Rik |
T |
A |
1: 16,151,101 (GRCm39) |
E27V |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,310,640 (GRCm39) |
I509N |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,880,585 (GRCm39) |
M143V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,996,251 (GRCm39) |
D4475G |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,992,747 (GRCm39) |
S1002T |
probably damaging |
Het |
| Bub3 |
T |
C |
7: 131,162,535 (GRCm39) |
S33P |
probably damaging |
Het |
| Ccna1 |
T |
A |
3: 54,957,311 (GRCm39) |
R35S |
probably damaging |
Het |
| Cdc23 |
T |
A |
18: 34,779,972 (GRCm39) |
M119L |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,771,650 (GRCm39) |
V49A |
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,116,364 (GRCm39) |
E282D |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,773,977 (GRCm39) |
A220V |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,219,720 (GRCm39) |
Y277C |
probably damaging |
Het |
| D930020B18Rik |
C |
G |
10: 121,490,666 (GRCm39) |
P89A |
probably damaging |
Het |
| D930020B18Rik |
C |
T |
10: 121,490,667 (GRCm39) |
P89L |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,493,919 (GRCm39) |
S1262P |
probably damaging |
Het |
| Dnajb5 |
G |
A |
4: 42,953,386 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
A |
G |
14: 24,357,064 (GRCm39) |
K200R |
unknown |
Het |
| Ect2l |
A |
G |
10: 18,048,477 (GRCm39) |
F156S |
probably benign |
Het |
| Egf |
T |
C |
3: 129,505,179 (GRCm39) |
|
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
| Elmo3 |
T |
A |
8: 106,036,133 (GRCm39) |
Y607* |
probably null |
Het |
| Eno3 |
A |
G |
11: 70,549,473 (GRCm39) |
D98G |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,388,150 (GRCm39) |
V651A |
probably damaging |
Het |
| Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,737,225 (GRCm39) |
V1321A |
probably benign |
Het |
| Gimd1 |
A |
T |
3: 132,340,718 (GRCm39) |
Y78F |
probably benign |
Het |
| Glmn |
T |
G |
5: 107,705,167 (GRCm39) |
D483A |
probably damaging |
Het |
| Gsr |
C |
T |
8: 34,183,941 (GRCm39) |
T401I |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,870,518 (GRCm39) |
H62Y |
possibly damaging |
Het |
| Ifna6 |
T |
C |
4: 88,745,777 (GRCm39) |
V42A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,759,837 (GRCm39) |
R627S |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,930,639 (GRCm39) |
V142M |
probably damaging |
Het |
| Lims1 |
A |
C |
10: 58,246,063 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,202,475 (GRCm39) |
T1059A |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,835,748 (GRCm39) |
L1810P |
probably damaging |
Het |
| Mboat1 |
T |
G |
13: 30,386,343 (GRCm39) |
I119R |
possibly damaging |
Het |
| Mgat3 |
T |
A |
15: 80,096,743 (GRCm39) |
D523E |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,442,253 (GRCm39) |
E395G |
probably damaging |
Het |
| Mtcl1 |
G |
T |
17: 66,649,834 (GRCm39) |
P1877Q |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,190,792 (GRCm39) |
V781A |
possibly damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,911,859 (GRCm39) |
M1395K |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,558,966 (GRCm39) |
D150E |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,256,811 (GRCm39) |
V54A |
probably benign |
Het |
| Or1e32 |
G |
A |
11: 73,705,146 (GRCm39) |
T254I |
probably damaging |
Het |
| Or3a1d |
A |
G |
11: 74,238,023 (GRCm39) |
I129T |
probably damaging |
Het |
| Parp14 |
A |
T |
16: 35,661,512 (GRCm39) |
C1479S |
probably benign |
Het |
| Pdcd1lg2 |
T |
C |
19: 29,423,484 (GRCm39) |
V176A |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,388,103 (GRCm39) |
N416K |
probably damaging |
Het |
| Pip4p1 |
A |
G |
14: 51,166,690 (GRCm39) |
V179A |
probably damaging |
Het |
| Polb |
A |
T |
8: 23,135,087 (GRCm39) |
V115E |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,881,524 (GRCm39) |
N1229K |
possibly damaging |
Het |
| Ppp1r21 |
A |
T |
17: 88,876,508 (GRCm39) |
D440V |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,004,033 (GRCm39) |
H63Q |
possibly damaging |
Het |
| Prl7a1 |
C |
T |
13: 27,819,669 (GRCm39) |
|
probably null |
Het |
| Rgs1 |
C |
A |
1: 144,122,060 (GRCm39) |
K77N |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,343,537 (GRCm39) |
I100F |
possibly damaging |
Het |
| Rnf139 |
G |
T |
15: 58,770,325 (GRCm39) |
E117* |
probably null |
Het |
| Robo1 |
G |
A |
16: 72,776,756 (GRCm39) |
V743I |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,413,056 (GRCm39) |
L434P |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,416,841 (GRCm39) |
V761A |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,430,486 (GRCm39) |
S300T |
possibly damaging |
Het |
| Slc26a7 |
T |
G |
4: 14,565,508 (GRCm39) |
T192P |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,310,579 (GRCm39) |
K403E |
probably damaging |
Het |
| Snai3 |
G |
A |
8: 123,183,071 (GRCm39) |
T158M |
possibly damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,437,923 (GRCm39) |
V406I |
probably benign |
Het |
| Tgds |
A |
C |
14: 118,355,175 (GRCm39) |
Y197D |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,546,978 (GRCm39) |
R323S |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,507,110 (GRCm39) |
Y369H |
probably damaging |
Het |
| Ube2nl |
C |
T |
7: 61,199,112 (GRCm39) |
|
noncoding transcript |
Het |
| Ube3a |
T |
A |
7: 58,934,568 (GRCm39) |
D560E |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,145,592 (GRCm39) |
V505A |
possibly damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,003,070 (GRCm39) |
Q160L |
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,815,375 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
G |
16: 21,280,158 (GRCm39) |
K336E |
possibly damaging |
Het |
| Zfp324 |
T |
C |
7: 12,703,300 (GRCm39) |
S32P |
probably benign |
Het |
| Zfp366 |
T |
C |
13: 99,366,003 (GRCm39) |
I388T |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,599 (GRCm39) |
N203K |
possibly damaging |
Het |
| Zhx2 |
A |
T |
15: 57,686,983 (GRCm39) |
N784I |
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 |
|
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 |
|
R6747:Vmn2r114
|
UTSW |
17 |
23,528,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GGCTGCATTTGGATGGCCA -3'
(R):5'- TTCTAACCAACAATTTGAGGGAAATA -3'
Sequencing Primer
(F):5'- TGGATGGCCAATGAAGAGC -3'
(R):5'- CCGCCCTAATGTGATTGAACATGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation