Incidental Mutation 'R9038:Vmn2r88'
| ID |
687557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| MMRRC Submission |
068866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R9038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51651490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: V276A
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: V276A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: V268A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163019
AA Change: V243A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: V243A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: V268A
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,895,651 (GRCm39) |
C382S |
probably benign |
Het |
| Abcf2 |
A |
G |
5: 24,776,191 (GRCm39) |
V296A |
possibly damaging |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,039,011 (GRCm39) |
D436G |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,056,692 (GRCm39) |
I254V |
|
Het |
| Arhgef18 |
A |
G |
8: 3,503,257 (GRCm39) |
I888V |
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,235,072 (GRCm39) |
A1083D |
probably damaging |
Het |
| Arnt2 |
C |
A |
7: 83,954,059 (GRCm39) |
A275S |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,731,900 (GRCm39) |
Y371N |
possibly damaging |
Het |
| Brip1 |
C |
T |
11: 86,080,599 (GRCm39) |
V156I |
probably benign |
Het |
| Camk4 |
C |
A |
18: 33,291,953 (GRCm39) |
C204* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,923,797 (GRCm39) |
T161A |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,105,358 (GRCm39) |
H1256Y |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,716,233 (GRCm39) |
V936I |
unknown |
Het |
| D6Ertd527e |
A |
G |
6: 87,089,233 (GRCm39) |
*465W |
probably null |
Het |
| Dcaf11 |
T |
A |
14: 55,803,114 (GRCm39) |
D309E |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,743,553 (GRCm39) |
N373S |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,897 (GRCm39) |
D104G |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,874,742 (GRCm39) |
T2302S |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,768,321 (GRCm39) |
K114E |
probably damaging |
Het |
| Gm12887 |
A |
G |
4: 121,473,616 (GRCm39) |
|
probably null |
Het |
| Gss |
A |
T |
2: 155,406,794 (GRCm39) |
I396N |
|
Het |
| H2-M5 |
T |
C |
17: 37,299,422 (GRCm39) |
I199M |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ift172 |
G |
T |
5: 31,441,399 (GRCm39) |
T245K |
possibly damaging |
Het |
| Ift70a2 |
G |
A |
2: 75,808,215 (GRCm39) |
T99I |
probably benign |
Het |
| Iqck |
A |
G |
7: 118,498,881 (GRCm39) |
D173G |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,675,039 (GRCm39) |
N857S |
possibly damaging |
Het |
| Kdm1b |
C |
A |
13: 47,202,770 (GRCm39) |
S68R |
probably benign |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Myo6 |
G |
T |
9: 80,162,285 (GRCm39) |
V341L |
unknown |
Het |
| Nfkbie |
C |
A |
17: 45,870,183 (GRCm39) |
A176E |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,330,478 (GRCm39) |
M639I |
probably benign |
Het |
| Or10g3 |
T |
A |
14: 52,609,716 (GRCm39) |
S265C |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,147 (GRCm39) |
I135N |
possibly damaging |
Het |
| Or56a41 |
T |
C |
7: 104,740,433 (GRCm39) |
I138V |
probably benign |
Het |
| Or5w16 |
A |
G |
2: 87,577,125 (GRCm39) |
N195S |
probably damaging |
Het |
| Or6c215 |
T |
C |
10: 129,637,564 (GRCm39) |
T277A |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,354 (GRCm39) |
S243T |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,264,263 (GRCm39) |
T213M |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,153,810 (GRCm39) |
Q1003* |
probably null |
Het |
| Pde4c |
G |
C |
8: 71,179,550 (GRCm39) |
V34L |
probably benign |
Het |
| Pi4k2a |
G |
A |
19: 42,089,235 (GRCm39) |
V199M |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,848,007 (GRCm39) |
E285G |
probably damaging |
Het |
| Polr3e |
T |
C |
7: 120,536,906 (GRCm39) |
V356A |
possibly damaging |
Het |
| Prcp |
A |
G |
7: 92,567,017 (GRCm39) |
D243G |
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,115,246 (GRCm39) |
T161A |
probably damaging |
Het |
| Rhoj |
A |
G |
12: 75,355,700 (GRCm39) |
T35A |
|
Het |
| Scn9a |
T |
A |
2: 66,325,147 (GRCm39) |
M1336L |
probably damaging |
Het |
| Sel1l2 |
G |
T |
2: 140,117,384 (GRCm39) |
N162K |
probably damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,820,866 (GRCm39) |
L161P |
probably damaging |
Het |
| Slc4a11 |
G |
A |
2: 130,533,663 (GRCm39) |
A100V |
probably damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,320 (GRCm39) |
S41G |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,222,085 (GRCm39) |
M183V |
probably benign |
Het |
| Tfip11 |
A |
G |
5: 112,481,214 (GRCm39) |
T397A |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,657,749 (GRCm39) |
S259P |
probably damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,117,172 (GRCm39) |
Y77C |
probably damaging |
Het |
| Tnnt2 |
C |
A |
1: 135,774,484 (GRCm39) |
P81H |
possibly damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,886 (GRCm39) |
T16A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,745,056 (GRCm39) |
Y5331F |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,526,922 (GRCm39) |
Q1057R |
possibly damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,918,649 (GRCm39) |
F81Y |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,471 (GRCm39) |
M155K |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,875,931 (GRCm39) |
C2772F |
possibly damaging |
Het |
| Wdr90 |
T |
C |
17: 26,076,200 (GRCm39) |
N86D |
|
Het |
| Zbtb34 |
T |
C |
2: 33,301,248 (GRCm39) |
D431G |
probably damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,711,237 (GRCm39) |
P408L |
probably benign |
Het |
| Zfp345 |
A |
G |
2: 150,313,864 (GRCm39) |
Y558H |
probably benign |
Het |
| Zfp583 |
G |
A |
7: 6,319,543 (GRCm39) |
P490S |
probably damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,655,437 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,655,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,651,597 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,651,959 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,655,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,656,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,654,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,650,487 (GRCm39) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,655,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,650,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,651,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,651,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,656,146 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,651,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,656,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,651,435 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,650,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,652,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,650,746 (GRCm39) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,655,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,655,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,655,531 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,656,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,655,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,650,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,650,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,650,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,650,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,648,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,651,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,655,606 (GRCm39) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,652,826 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,651,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,651,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,656,100 (GRCm39) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,651,253 (GRCm39) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,655,776 (GRCm39) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,651,712 (GRCm39) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,648,315 (GRCm39) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,651,454 (GRCm39) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,655,446 (GRCm39) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,655,906 (GRCm39) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,656,160 (GRCm39) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,650,589 (GRCm39) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,651,564 (GRCm39) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,650,530 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,651,523 (GRCm39) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,656,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,648,593 (GRCm39) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,655,983 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,650,624 (GRCm39) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,648,329 (GRCm39) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,656,197 (GRCm39) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,648,641 (GRCm39) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,651,189 (GRCm39) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,650,584 (GRCm39) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,651,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,644 (GRCm39) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,503 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,650,658 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGCATTGTCTCCTTGATG -3'
(R):5'- TCTCAAATCTGCGGTGTGC -3'
Sequencing Primer
(F):5'- ACTTGGATAGGACTGGTCATCTCAG -3'
(R):5'- CGGTGTGCAAAAGTAATAGTCCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation