Incidental Mutation 'R4805:Vmn2r118'
| ID |
370652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r118
|
| Ensembl Gene |
ENSMUSG00000091504 |
| Gene Name |
vomeronasal 2, receptor 118 |
| Synonyms |
Vmn2r119, EG668547, EG383258 |
| MMRRC Submission |
041999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R4805 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55899581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 774
(D774E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
| AlphaFold |
E9Q1C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168440
AA Change: D774E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: D774E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,950,628 (GRCm39) |
Y1508* |
probably null |
Het |
| 4931414P19Rik |
T |
C |
14: 54,832,911 (GRCm39) |
E88G |
probably benign |
Het |
| Acaa1b |
A |
G |
9: 118,986,014 (GRCm39) |
S17P |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,881,552 (GRCm39) |
E565K |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
A |
1: 185,077,504 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
C |
T |
15: 98,442,189 (GRCm39) |
V360I |
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,105,908 (GRCm39) |
S1829P |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 138,981,122 (GRCm39) |
N112I |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,174,805 (GRCm39) |
D1969E |
probably benign |
Het |
| Flywch1 |
A |
C |
17: 23,979,591 (GRCm39) |
D394E |
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,263,733 (GRCm39) |
|
probably null |
Het |
| Gm14403 |
T |
C |
2: 177,200,492 (GRCm39) |
L146P |
probably damaging |
Het |
| Gm5283 |
G |
T |
3: 17,285,123 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
A |
1: 165,134,029 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,411 (GRCm39) |
M105K |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,880,018 (GRCm39) |
Y1264H |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,952 (GRCm39) |
Q348L |
possibly damaging |
Het |
| Ighv1-83 |
A |
T |
12: 115,927,489 (GRCm39) |
M87K |
possibly damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,154 (GRCm39) |
S44T |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,650,691 (GRCm39) |
N884K |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,358,692 (GRCm39) |
N75S |
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,319,811 (GRCm39) |
V431A |
unknown |
Het |
| Krt24 |
A |
T |
11: 99,174,452 (GRCm39) |
I205N |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc31 |
A |
T |
3: 30,745,446 (GRCm39) |
L67* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,395,135 (GRCm39) |
F97L |
probably benign |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mgat4d |
T |
G |
8: 84,084,787 (GRCm39) |
|
probably null |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,054 (GRCm39) |
V166I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,052,329 (GRCm39) |
Q379L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,222,590 (GRCm39) |
S782G |
probably benign |
Het |
| Nobox |
T |
C |
6: 43,282,053 (GRCm39) |
D340G |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Or2t29 |
G |
A |
11: 58,433,396 (GRCm39) |
T315I |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,661 (GRCm39) |
I11F |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,307,959 (GRCm39) |
I1845N |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,103,590 (GRCm39) |
Y179H |
probably benign |
Het |
| Rad21l |
T |
G |
2: 151,509,927 (GRCm39) |
H58P |
probably damaging |
Het |
| Scnn1g |
T |
C |
7: 121,345,825 (GRCm39) |
L316S |
probably damaging |
Het |
| Serpina5 |
G |
A |
12: 104,068,460 (GRCm39) |
V174I |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,993,135 (GRCm39) |
S788P |
unknown |
Het |
| Shisal1 |
T |
A |
15: 84,301,397 (GRCm39) |
H82L |
probably damaging |
Het |
| Snap47 |
A |
G |
11: 59,319,343 (GRCm39) |
V265A |
possibly damaging |
Het |
| Steap3 |
T |
A |
1: 120,171,616 (GRCm39) |
H163L |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,173,076 (GRCm39) |
F1729L |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 130,116,276 (GRCm39) |
V1343A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,130 (GRCm39) |
T486I |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,565,662 (GRCm39) |
M405I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,577,873 (GRCm39) |
D24340G |
probably damaging |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,602 (GRCm39) |
F65V |
possibly damaging |
Het |
| Vmn2r13 |
C |
T |
5: 109,304,331 (GRCm39) |
C700Y |
probably damaging |
Het |
| Wsb1 |
A |
C |
11: 79,131,217 (GRCm39) |
M393R |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,397,504 (GRCm39) |
Y214H |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,099 (GRCm39) |
T193I |
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 |
|
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 |
|
R8248:Vmn2r118
|
UTSW |
17 |
55,917,936 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- TAGCACTTGGGGATAAAGATGC -3'
(R):5'- CAAAGTCATCATTCCAATCTGTTCC -3'
Sequencing Primer
(F):5'- GATGCAACCTAGAAGCCCTG -3'
(R):5'- AACTAATTATCTGTGGATTCTGGTTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation