Incidental Mutation 'R8248:Vmn2r118'
| ID |
640403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r118
|
| Ensembl Gene |
ENSMUSG00000091504 |
| Gene Name |
vomeronasal 2, receptor 118 |
| Synonyms |
Vmn2r119, EG668547, EG383258 |
| MMRRC Submission |
067675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R8248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55917936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 192
(N192S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
| AlphaFold |
E9Q1C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168440
AA Change: N192S
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: N192S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
142 |
470 |
4.6e-27 |
PFAM |
|
Pfam:NCD3G
|
513 |
566 |
2.6e-20 |
PFAM |
|
Pfam:7tm_3
|
599 |
834 |
5.9e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,556 (GRCm39) |
D24G |
noncoding transcript |
Het |
| Adam32 |
A |
G |
8: 25,391,486 (GRCm39) |
S343P |
possibly damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,847,991 (GRCm39) |
D466E |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,310 (GRCm39) |
V198E |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,731,434 (GRCm39) |
H658L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,366,072 (GRCm39) |
I781N |
probably damaging |
Het |
| Bloc1s6 |
A |
T |
2: 122,584,565 (GRCm39) |
R47* |
probably null |
Het |
| Clk2 |
G |
A |
3: 89,080,811 (GRCm39) |
V266M |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,840,940 (GRCm39) |
Y777D |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dcp1a |
C |
T |
14: 30,201,555 (GRCm39) |
|
probably benign |
Het |
| Dnajb2 |
T |
G |
1: 75,220,226 (GRCm39) |
D248E |
|
Het |
| Dpy19l1 |
T |
C |
9: 24,414,191 (GRCm39) |
H79R |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,371 (GRCm39) |
S643P |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,966,753 (GRCm39) |
|
probably null |
Het |
| Fam76b |
T |
C |
9: 13,742,398 (GRCm39) |
C110R |
probably damaging |
Het |
| Galnt7 |
T |
A |
8: 57,991,222 (GRCm39) |
K429N |
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,950 (GRCm39) |
C104S |
probably damaging |
Het |
| Gm7298 |
A |
C |
6: 121,764,402 (GRCm39) |
H1427P |
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,255,310 (GRCm39) |
I87F |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gpr25 |
C |
A |
1: 136,188,415 (GRCm39) |
R66L |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,563,841 (GRCm39) |
N241D |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,144,881 (GRCm39) |
D179G |
probably benign |
Het |
| Itch |
T |
C |
2: 155,048,303 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,712,052 (GRCm39) |
V913A |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,225,354 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,937,375 (GRCm39) |
I655T |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,581,667 (GRCm39) |
S817R |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,755,733 (GRCm39) |
M503L |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,875,229 (GRCm39) |
T1380A |
probably damaging |
Het |
| Mfap1a |
G |
T |
2: 121,336,976 (GRCm39) |
T16K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,960,586 (GRCm39) |
T773I |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nudt7 |
A |
G |
8: 114,878,737 (GRCm39) |
Y255C |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,406,942 (GRCm39) |
I2393R |
probably damaging |
Het |
| Pmm1 |
A |
C |
15: 81,844,932 (GRCm39) |
L24R |
possibly damaging |
Het |
| Pram1 |
T |
C |
17: 33,860,138 (GRCm39) |
V235A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,877 (GRCm39) |
T599A |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,214,166 (GRCm39) |
K812E |
unknown |
Het |
| Qars1 |
G |
A |
9: 108,386,651 (GRCm39) |
A155T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,184,478 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,906,045 (GRCm39) |
R165W |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,206,987 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,768,546 (GRCm39) |
W2808R |
probably damaging |
Het |
| Sh3gl1 |
A |
G |
17: 56,326,038 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,347,563 (GRCm39) |
M279K |
probably benign |
Het |
| Snx11 |
A |
G |
11: 96,660,759 (GRCm39) |
S184P |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,640,722 (GRCm39) |
C692R |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,700,104 (GRCm39) |
N982S |
probably damaging |
Het |
| Stac |
T |
A |
9: 111,422,813 (GRCm39) |
D270V |
probably benign |
Het |
| Syn3 |
T |
A |
10: 85,970,885 (GRCm39) |
I246F |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,719,663 (GRCm39) |
V980A |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,419,001 (GRCm39) |
A47E |
possibly damaging |
Het |
| Zmym4 |
C |
A |
4: 126,799,162 (GRCm39) |
V725L |
possibly damaging |
Het |
|
| Other mutations in Vmn2r118 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Vmn2r118
|
APN |
17 |
55,899,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00976:Vmn2r118
|
APN |
17 |
55,900,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Vmn2r118
|
APN |
17 |
55,900,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01796:Vmn2r118
|
APN |
17 |
55,915,585 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01799:Vmn2r118
|
APN |
17 |
55,899,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Vmn2r118
|
APN |
17 |
55,899,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02075:Vmn2r118
|
APN |
17 |
55,917,517 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02172:Vmn2r118
|
APN |
17 |
55,931,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02529:Vmn2r118
|
APN |
17 |
55,917,870 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02712:Vmn2r118
|
APN |
17 |
55,899,655 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03096:Vmn2r118
|
APN |
17 |
55,914,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0306:Vmn2r118
|
UTSW |
17 |
55,915,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0329:Vmn2r118
|
UTSW |
17 |
55,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Vmn2r118
|
UTSW |
17 |
55,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Vmn2r118
|
UTSW |
17 |
55,915,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0411:Vmn2r118
|
UTSW |
17 |
55,918,021 (GRCm39) |
splice site |
probably benign |
|
|
R0513:Vmn2r118
|
UTSW |
17 |
55,917,970 (GRCm39) |
nonsense |
probably null |
|
|
R0627:Vmn2r118
|
UTSW |
17 |
55,917,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0638:Vmn2r118
|
UTSW |
17 |
55,915,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1328:Vmn2r118
|
UTSW |
17 |
55,915,620 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1366:Vmn2r118
|
UTSW |
17 |
55,900,237 (GRCm39) |
nonsense |
probably null |
|
|
R1465:Vmn2r118
|
UTSW |
17 |
55,917,935 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1465:Vmn2r118
|
UTSW |
17 |
55,917,935 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1511:Vmn2r118
|
UTSW |
17 |
55,915,496 (GRCm39) |
nonsense |
probably null |
|
|
R1515:Vmn2r118
|
UTSW |
17 |
55,917,643 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1550:Vmn2r118
|
UTSW |
17 |
55,915,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Vmn2r118
|
UTSW |
17 |
55,918,530 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1834:Vmn2r118
|
UTSW |
17 |
55,899,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Vmn2r118
|
UTSW |
17 |
55,917,406 (GRCm39) |
nonsense |
probably null |
|
|
R1854:Vmn2r118
|
UTSW |
17 |
55,918,556 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1967:Vmn2r118
|
UTSW |
17 |
55,899,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Vmn2r118
|
UTSW |
17 |
55,899,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Vmn2r118
|
UTSW |
17 |
55,931,650 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3700:Vmn2r118
|
UTSW |
17 |
55,915,421 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4334:Vmn2r118
|
UTSW |
17 |
55,917,347 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4647:Vmn2r118
|
UTSW |
17 |
55,917,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Vmn2r118
|
UTSW |
17 |
55,917,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:Vmn2r118
|
UTSW |
17 |
55,899,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Vmn2r118
|
UTSW |
17 |
55,899,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5384:Vmn2r118
|
UTSW |
17 |
55,918,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Vmn2r118
|
UTSW |
17 |
55,918,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5664:Vmn2r118
|
UTSW |
17 |
55,899,765 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5740:Vmn2r118
|
UTSW |
17 |
55,900,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5927:Vmn2r118
|
UTSW |
17 |
55,931,494 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6143:Vmn2r118
|
UTSW |
17 |
55,899,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6513:Vmn2r118
|
UTSW |
17 |
55,915,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Vmn2r118
|
UTSW |
17 |
55,899,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6760:Vmn2r118
|
UTSW |
17 |
55,899,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6794:Vmn2r118
|
UTSW |
17 |
55,899,348 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6929:Vmn2r118
|
UTSW |
17 |
55,917,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7201:Vmn2r118
|
UTSW |
17 |
55,915,496 (GRCm39) |
nonsense |
probably null |
|
|
R7539:Vmn2r118
|
UTSW |
17 |
55,899,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7836:Vmn2r118
|
UTSW |
17 |
55,900,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8179:Vmn2r118
|
UTSW |
17 |
55,915,484 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8347:Vmn2r118
|
UTSW |
17 |
55,917,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8415:Vmn2r118
|
UTSW |
17 |
55,915,057 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8428:Vmn2r118
|
UTSW |
17 |
55,915,642 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8917:Vmn2r118
|
UTSW |
17 |
55,917,216 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8993:Vmn2r118
|
UTSW |
17 |
55,917,835 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9038:Vmn2r118
|
UTSW |
17 |
55,918,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Vmn2r118
|
UTSW |
17 |
55,917,207 (GRCm39) |
missense |
probably null |
0.83 |
|
R9603:Vmn2r118
|
UTSW |
17 |
55,899,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9742:Vmn2r118
|
UTSW |
17 |
55,918,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9749:Vmn2r118
|
UTSW |
17 |
55,915,415 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9792:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9793:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9795:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0022:Vmn2r118
|
UTSW |
17 |
55,900,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r118
|
UTSW |
17 |
55,917,655 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCATGTTCTGTGGAATCAC -3'
(R):5'- TACATTTCCAGAGGATTATGGGTAG -3'
Sequencing Primer
(F):5'- GTGGAATCACATTCACAAAGGC -3'
(R):5'- TCCAGAGGATTATGGGTAGTTAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation