Incidental Mutation 'R8993:Vmn2r118'
| ID |
684572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r118
|
| Ensembl Gene |
ENSMUSG00000091504 |
| Gene Name |
vomeronasal 2, receptor 118 |
| Synonyms |
Vmn2r119, EG668547, EG383258 |
| MMRRC Submission |
068824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R8993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55917835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 226
(L226I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
| AlphaFold |
E9Q1C1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168440
AA Change: L226I
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: L226I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,841,842 (GRCm39) |
C92* |
probably null |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Acaa1a |
A |
T |
9: 119,178,418 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,008,835 (GRCm39) |
E864G |
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,016,156 (GRCm39) |
D387G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,588,955 (GRCm39) |
H574Y |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,355,525 (GRCm39) |
Y699F |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,101 (GRCm39) |
V251M |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,901,529 (GRCm39) |
A391V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,974,210 (GRCm39) |
V2368G |
probably benign |
Het |
| Braf |
A |
G |
6: 39,639,085 (GRCm39) |
V222A |
probably damaging |
Het |
| Cd33 |
G |
T |
7: 43,182,871 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
T |
A |
5: 92,170,010 (GRCm39) |
K324N |
probably damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,154 (GRCm39) |
T199S |
probably damaging |
Het |
| Cmtm4 |
A |
C |
8: 105,081,798 (GRCm39) |
D196E |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,535,451 (GRCm39) |
P921H |
unknown |
Het |
| Crmp1 |
T |
C |
5: 37,399,490 (GRCm39) |
M1T |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,543,262 (GRCm39) |
Y2303N |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,551,888 (GRCm39) |
T650K |
probably benign |
Het |
| Eif1ad15 |
A |
G |
12: 88,288,170 (GRCm39) |
F28L |
probably benign |
Het |
| Fam24a |
A |
G |
7: 130,938,269 (GRCm39) |
D53G |
probably benign |
Het |
| Foxa2 |
A |
T |
2: 147,886,626 (GRCm39) |
M69K |
probably benign |
Het |
| Gatad2a |
T |
A |
8: 70,362,585 (GRCm39) |
H601L |
probably damaging |
Het |
| Gimap4 |
A |
C |
6: 48,667,539 (GRCm39) |
D98A |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,501,623 (GRCm39) |
R371L |
possibly damaging |
Het |
| Golim4 |
G |
T |
3: 75,785,435 (GRCm39) |
A652E |
probably benign |
Het |
| Grid1 |
A |
G |
14: 34,748,899 (GRCm39) |
I240V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,272 (GRCm39) |
T400S |
unknown |
Het |
| Itk |
G |
A |
11: 46,225,735 (GRCm39) |
R539C |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,912 (GRCm39) |
D695V |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,839,441 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,298,710 (GRCm39) |
V129L |
possibly damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,696,392 (GRCm39) |
E552D |
possibly damaging |
Het |
| Mpp3 |
A |
G |
11: 101,891,491 (GRCm39) |
I549T |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,394 (GRCm39) |
Y260H |
probably benign |
Het |
| Nipal2 |
T |
A |
15: 34,648,983 (GRCm39) |
K69* |
probably null |
Het |
| Nlrx1 |
G |
T |
9: 44,168,238 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,429,852 (GRCm39) |
A115E |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,673,810 (GRCm39) |
Y369H |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,943,431 (GRCm39) |
Y1286C |
possibly damaging |
Het |
| Poglut2 |
G |
T |
1: 44,151,924 (GRCm39) |
L322I |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 143,999,529 (GRCm39) |
E186G |
possibly damaging |
Het |
| Qdpr |
C |
T |
5: 45,607,386 (GRCm39) |
G20D |
probably damaging |
Het |
| Rmnd1 |
T |
G |
10: 4,357,918 (GRCm39) |
I364L |
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 76,022,369 (GRCm39) |
E568V |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,816,390 (GRCm39) |
I330F |
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,180,552 (GRCm39) |
T119A |
possibly damaging |
Het |
| Sypl1 |
G |
A |
12: 33,025,662 (GRCm39) |
S242N |
probably benign |
Het |
| Tbx18 |
G |
A |
9: 87,612,770 (GRCm39) |
T43M |
probably benign |
Het |
| Tm7sf2 |
T |
A |
19: 6,113,956 (GRCm39) |
D263V |
probably damaging |
Het |
| Trbv21 |
T |
C |
6: 41,179,924 (GRCm39) |
I80T |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,228,667 (GRCm39) |
L747Q |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,707,813 (GRCm39) |
D498G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,583,714 (GRCm39) |
Y22431C |
probably null |
Het |
| Ubtfl1 |
T |
A |
9: 18,321,637 (GRCm39) |
S388R |
|
Het |
| Wdr46 |
A |
G |
17: 34,168,156 (GRCm39) |
H576R |
probably benign |
Het |
| Zfp426 |
A |
G |
9: 20,386,296 (GRCm39) |
F62L |
probably 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 |
|
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 |
|
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'- TGGCATCCCATTGTGAGGTG -3'
(R):5'- GATTACCTATGGACCATTCTACCC -3'
Sequencing Primer
(F):5'- CATCCCATTGTGAGGTGGTGAAC -3'
(R):5'- TACCCTCTCCTGAGTGACCAGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation