Incidental Mutation 'R5652:Vmn2r88'
ID |
441515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r88
|
Ensembl Gene |
ENSMUSG00000000606 |
Gene Name |
vomeronasal 2, receptor 88 |
Synonyms |
V2r13, V2r3 |
MMRRC Submission |
043298-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R5652 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51656029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 746
(V746A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
AlphaFold |
L7N1W8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022438
AA Change: V755A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022438 Gene: ENSMUSG00000000606 AA Change: V755A
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 |
probably damaging
Transcript: ENSMUST00000159674
AA Change: V746A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125126 Gene: ENSMUSG00000000606 AA Change: V746A
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 |
probably benign
Transcript: ENSMUST00000163019
|
SMART Domains |
Protein: ENSMUSP00000124837 Gene: ENSMUSG00000000606
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228139
AA Change: V747A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,856,339 (GRCm39) |
I334V |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,696,156 (GRCm39) |
A334T |
probably damaging |
Het |
Adcy4 |
G |
C |
14: 56,010,900 (GRCm39) |
F672L |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,656,444 (GRCm39) |
Y254C |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,174,065 (GRCm39) |
S115P |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,134,356 (GRCm39) |
S1110C |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,915,064 (GRCm39) |
N401K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,735,494 (GRCm39) |
N63K |
possibly damaging |
Het |
Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
Celsr2 |
T |
C |
3: 108,304,051 (GRCm39) |
D2364G |
probably null |
Het |
Celsr3 |
G |
A |
9: 108,715,671 (GRCm39) |
D2116N |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,389,279 (GRCm39) |
S1518P |
probably damaging |
Het |
Clcn3 |
C |
A |
8: 61,372,387 (GRCm39) |
V758L |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,222,626 (GRCm39) |
V203A |
probably benign |
Het |
Ctsf |
T |
C |
19: 4,908,505 (GRCm39) |
L288P |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,575,484 (GRCm39) |
T334A |
probably damaging |
Het |
Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,691,138 (GRCm39) |
I260T |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,865,201 (GRCm39) |
H47R |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,632,422 (GRCm39) |
V4514I |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,116,638 (GRCm39) |
M66K |
probably benign |
Het |
Fam186a |
T |
G |
15: 99,843,253 (GRCm39) |
Y997S |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,057,117 (GRCm39) |
T4271I |
probably damaging |
Het |
Fdxacb1 |
T |
A |
9: 50,679,705 (GRCm39) |
L41Q |
probably damaging |
Het |
Fgfr2 |
C |
T |
7: 129,863,593 (GRCm39) |
V18M |
probably damaging |
Het |
Gpa33 |
A |
C |
1: 165,992,714 (GRCm39) |
|
probably null |
Het |
Gpr107 |
A |
G |
2: 31,075,601 (GRCm39) |
I371V |
probably benign |
Het |
H1f6 |
A |
G |
13: 23,880,219 (GRCm39) |
K124R |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,581,720 (GRCm39) |
V420A |
probably damaging |
Het |
Iglc3 |
A |
G |
16: 18,884,420 (GRCm39) |
|
probably benign |
Het |
Igtp |
A |
G |
11: 58,097,455 (GRCm39) |
T209A |
probably benign |
Het |
Itgb7 |
T |
A |
15: 102,124,638 (GRCm39) |
N793I |
possibly damaging |
Het |
Kansl1 |
G |
A |
11: 104,228,992 (GRCm39) |
R870C |
probably damaging |
Het |
Kcnh6 |
C |
T |
11: 105,899,811 (GRCm39) |
R27C |
probably damaging |
Het |
Kif2b |
T |
A |
11: 91,466,656 (GRCm39) |
E542D |
possibly damaging |
Het |
Klhl24 |
C |
A |
16: 19,938,997 (GRCm39) |
Y517* |
probably null |
Het |
Klhl25 |
A |
G |
7: 75,515,895 (GRCm39) |
D267G |
probably benign |
Het |
Krr1 |
C |
A |
10: 111,813,288 (GRCm39) |
F195L |
possibly damaging |
Het |
Lsr |
C |
T |
7: 30,658,456 (GRCm39) |
G95D |
probably damaging |
Het |
Matcap2 |
A |
G |
9: 22,335,786 (GRCm39) |
T135A |
probably benign |
Het |
Med15 |
A |
T |
16: 17,473,055 (GRCm39) |
I504N |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,817,140 (GRCm39) |
R70G |
probably benign |
Het |
Mypn |
T |
A |
10: 62,971,580 (GRCm39) |
Q820L |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,330,803 (GRCm39) |
H863Q |
probably benign |
Het |
Nudt9 |
G |
A |
5: 104,207,646 (GRCm39) |
V213M |
probably benign |
Het |
Or5ak4 |
T |
A |
2: 85,161,717 (GRCm39) |
N175I |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
Or7g16 |
A |
G |
9: 18,726,922 (GRCm39) |
S223P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,092,111 (GRCm39) |
T3A |
probably benign |
Het |
Orc2 |
A |
G |
1: 58,505,231 (GRCm39) |
F475L |
probably damaging |
Het |
Oxa1l |
T |
A |
14: 54,604,289 (GRCm39) |
L183* |
probably null |
Het |
Pcdh20 |
T |
C |
14: 88,704,760 (GRCm39) |
T847A |
probably damaging |
Het |
Pcdha6 |
G |
A |
18: 37,101,889 (GRCm39) |
|
probably null |
Het |
Pip5k1a |
T |
C |
3: 94,974,750 (GRCm39) |
N376S |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,859,889 (GRCm39) |
E573G |
probably benign |
Het |
Pkp1 |
T |
A |
1: 135,810,335 (GRCm39) |
|
probably null |
Het |
Pum1 |
T |
C |
4: 130,491,438 (GRCm39) |
I643T |
possibly damaging |
Het |
Rapgef3 |
A |
G |
15: 97,656,318 (GRCm39) |
S328P |
probably benign |
Het |
Raver1 |
A |
G |
9: 21,001,608 (GRCm39) |
V75A |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,135,408 (GRCm39) |
E511G |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,049,823 (GRCm39) |
T544S |
probably damaging |
Het |
Sdcbp2 |
T |
C |
2: 151,431,135 (GRCm39) |
V248A |
probably benign |
Het |
Sema7a |
A |
G |
9: 57,867,942 (GRCm39) |
D506G |
probably damaging |
Het |
Septin8 |
A |
G |
11: 53,428,044 (GRCm39) |
E286G |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,372,812 (GRCm39) |
I660V |
probably damaging |
Het |
Stk38l |
G |
T |
6: 146,674,826 (GRCm39) |
D364Y |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 178,000,498 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
T |
A |
15: 57,815,062 (GRCm39) |
S580T |
probably damaging |
Het |
Tcerg1l |
G |
A |
7: 137,881,775 (GRCm39) |
R305C |
probably damaging |
Het |
Tek |
T |
A |
4: 94,743,561 (GRCm39) |
Y859N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,962,191 (GRCm39) |
|
probably null |
Het |
Tmem132d |
A |
T |
5: 127,861,859 (GRCm39) |
I754N |
possibly damaging |
Het |
Togaram1 |
G |
A |
12: 65,063,424 (GRCm39) |
V1580I |
probably benign |
Het |
Troap |
A |
G |
15: 98,980,145 (GRCm39) |
T442A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
Twnk |
T |
A |
19: 44,995,732 (GRCm39) |
V55E |
possibly damaging |
Het |
Uggt1 |
A |
T |
1: 36,255,234 (GRCm39) |
Y225* |
probably null |
Het |
Vmn2r109 |
A |
G |
17: 20,760,781 (GRCm39) |
*859Q |
probably null |
Het |
Vmn2r17 |
A |
T |
5: 109,577,430 (GRCm39) |
I494L |
probably benign |
Het |
Yae1d1 |
A |
G |
13: 18,166,291 (GRCm39) |
L57P |
probably damaging |
Het |
Zfp26 |
G |
A |
9: 20,349,137 (GRCm39) |
R476* |
probably null |
Het |
Zmynd8 |
T |
A |
2: 165,649,618 (GRCm39) |
Q816L |
probably damaging |
Het |
Zswim8 |
A |
T |
14: 20,763,495 (GRCm39) |
H414L |
possibly 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 |
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'- AGCTCACTACTCCAGGAAGAAG -3'
(R):5'- CCTGCACTAGAAGCCAAGATTG -3'
Sequencing Primer
(F):5'- CTCACTACTCCAGGAAGAAGAATGAG -3'
(R):5'- TAGAAGCCAAGATTGAGAAAACCTC -3'
|
Posted On |
2016-11-08 |