Incidental Mutation 'R5619:Vmn2r88'
ID |
439735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r88
|
Ensembl Gene |
ENSMUSG00000000606 |
Gene Name |
vomeronasal 2, receptor 88 |
Synonyms |
V2r13, V2r3 |
MMRRC Submission |
043278-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R5619 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51651367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 235
(E235G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
AlphaFold |
L7N1W8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022438
AA Change: E235G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022438 Gene: ENSMUSG00000000606 AA Change: E235G
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 |
unknown
Transcript: ENSMUST00000159674
AA Change: E227G
|
SMART Domains |
Protein: ENSMUSP00000125126 Gene: ENSMUSG00000000606 AA Change: E227G
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 |
noncoding transcript
Transcript: ENSMUST00000161565
|
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 |
unknown
Transcript: ENSMUST00000163019
AA Change: E202G
|
SMART Domains |
Protein: ENSMUSP00000124837 Gene: ENSMUSG00000000606 AA Change: E202G
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228139
AA Change: E227G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Adgre1 |
T |
G |
17: 57,727,437 (GRCm39) |
L456V |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,620,619 (GRCm39) |
G3943R |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,004,760 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
A |
1: 172,106,948 (GRCm39) |
I791F |
probably damaging |
Het |
BC004004 |
C |
G |
17: 29,501,703 (GRCm39) |
P81A |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,480,579 (GRCm39) |
T2755K |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,719,322 (GRCm39) |
D215G |
probably damaging |
Het |
Ccdc142 |
C |
T |
6: 83,080,603 (GRCm39) |
S445F |
probably benign |
Het |
Comt |
T |
C |
16: 18,230,469 (GRCm39) |
E80G |
probably damaging |
Het |
Coq7 |
T |
C |
7: 118,126,709 (GRCm39) |
|
probably benign |
Het |
Coro7 |
C |
A |
16: 4,494,799 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,792,228 (GRCm39) |
S239P |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,302,581 (GRCm39) |
S1613P |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,118,885 (GRCm39) |
I2193M |
probably benign |
Het |
Eipr1 |
A |
G |
12: 28,917,078 (GRCm39) |
Y382C |
probably damaging |
Het |
Fastkd2 |
T |
A |
1: 63,778,469 (GRCm39) |
H447Q |
probably benign |
Het |
Galk2 |
A |
T |
2: 125,817,317 (GRCm39) |
R369* |
probably null |
Het |
Gli2 |
G |
A |
1: 118,764,485 (GRCm39) |
A1222V |
probably benign |
Het |
Golim4 |
T |
A |
3: 75,813,802 (GRCm39) |
K141* |
probably null |
Het |
Gtpbp3 |
G |
T |
8: 71,943,692 (GRCm39) |
|
probably benign |
Het |
Gzmd |
C |
T |
14: 56,367,224 (GRCm39) |
A223T |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,958,221 (GRCm39) |
R151G |
probably damaging |
Het |
Itga8 |
T |
A |
2: 12,270,139 (GRCm39) |
R116W |
probably damaging |
Het |
Klhdc1 |
T |
G |
12: 69,304,919 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,516,602 (GRCm39) |
Y198H |
probably benign |
Het |
Klhl29 |
A |
T |
12: 5,190,587 (GRCm39) |
M136K |
probably benign |
Het |
Lipf |
A |
T |
19: 33,944,292 (GRCm39) |
Y167F |
possibly damaging |
Het |
Lpar1 |
T |
C |
4: 58,487,155 (GRCm39) |
K39E |
possibly damaging |
Het |
Mbtd1 |
T |
A |
11: 93,820,705 (GRCm39) |
|
probably null |
Het |
Myo1a |
T |
A |
10: 127,554,413 (GRCm39) |
N794K |
probably benign |
Het |
Nmrk1 |
T |
C |
19: 18,622,452 (GRCm39) |
L177P |
possibly damaging |
Het |
Noxa1 |
C |
T |
2: 24,975,988 (GRCm39) |
E401K |
probably damaging |
Het |
Or10g9b |
T |
A |
9: 39,918,039 (GRCm39) |
M69L |
probably benign |
Het |
Or4f53 |
A |
T |
2: 111,087,856 (GRCm39) |
Y132F |
probably damaging |
Het |
Ostm1 |
T |
A |
10: 42,555,325 (GRCm39) |
C116S |
probably damaging |
Het |
Pcdhga7 |
T |
C |
18: 37,848,800 (GRCm39) |
I269T |
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,489,470 (GRCm39) |
K276R |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,648,765 (GRCm39) |
|
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,153,270 (GRCm39) |
D142G |
probably damaging |
Het |
Pkp3 |
T |
C |
7: 140,668,419 (GRCm39) |
L556P |
probably damaging |
Het |
Plb1 |
C |
A |
5: 32,490,841 (GRCm39) |
T1046N |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,047,012 (GRCm39) |
S770G |
possibly damaging |
Het |
Polk |
A |
T |
13: 96,620,064 (GRCm39) |
I733N |
probably damaging |
Het |
Potegl |
T |
C |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
Prkg2 |
C |
A |
5: 99,136,156 (GRCm39) |
C301F |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,066,142 (GRCm39) |
T189A |
probably benign |
Het |
Raph1 |
T |
C |
1: 60,529,414 (GRCm39) |
|
probably benign |
Het |
Rbm22 |
T |
A |
18: 60,693,899 (GRCm39) |
M1K |
probably null |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf186 |
T |
A |
4: 138,694,715 (GRCm39) |
I85N |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,723,088 (GRCm39) |
R2517L |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,665,378 (GRCm39) |
Y103N |
probably damaging |
Het |
Serpinb3a |
G |
A |
1: 106,974,838 (GRCm39) |
P232S |
probably damaging |
Het |
Slco6d1 |
C |
A |
1: 98,423,947 (GRCm39) |
T533K |
probably damaging |
Het |
Smarcad1 |
T |
A |
6: 65,088,865 (GRCm39) |
D1000E |
probably benign |
Het |
Spata46 |
A |
T |
1: 170,136,490 (GRCm39) |
I14F |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,703,815 (GRCm39) |
H106R |
possibly damaging |
Het |
Spint4 |
T |
C |
2: 164,542,761 (GRCm39) |
L118P |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,880,613 (GRCm39) |
|
noncoding transcript |
Het |
Tgfbr3 |
A |
T |
5: 107,288,380 (GRCm39) |
I427N |
probably benign |
Het |
Thbs2 |
C |
A |
17: 14,901,506 (GRCm39) |
C491F |
probably damaging |
Het |
Tmem232 |
T |
A |
17: 65,793,506 (GRCm39) |
E64D |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,565,197 (GRCm39) |
C585* |
probably null |
Het |
Ttc13 |
A |
T |
8: 125,406,683 (GRCm39) |
|
probably benign |
Het |
Tuba8 |
C |
T |
6: 121,202,854 (GRCm39) |
A389V |
probably damaging |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Usp25 |
A |
G |
16: 76,830,833 (GRCm39) |
I30V |
probably benign |
Het |
Vmn2r31 |
T |
A |
7: 7,387,529 (GRCm39) |
K681* |
probably null |
Het |
Vps29 |
T |
A |
5: 122,492,511 (GRCm39) |
|
probably benign |
Het |
Wdr1 |
A |
C |
5: 38,686,879 (GRCm39) |
V568G |
possibly damaging |
Het |
Zfp64 |
T |
G |
2: 168,741,734 (GRCm39) |
Q398P |
probably damaging |
Het |
Zfp64 |
G |
T |
2: 168,741,735 (GRCm39) |
Q398K |
probably damaging |
Het |
Zfp839 |
T |
C |
12: 110,830,470 (GRCm39) |
Y398H |
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 |
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 |
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,651,490 (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'- TGAGTCCGAGCATCCTAATAATC -3'
(R):5'- TGATCCAGATTCTCCGAGCAC -3'
Sequencing Primer
(F):5'- TCCGAGCATCCTAATAATCATATTTC -3'
(R):5'- AGATTCTCCGAGCACCTAAATTTTC -3'
|
Posted On |
2016-11-08 |