Incidental Mutation 'R1639:Vmn2r88'
ID |
173398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r88
|
Ensembl Gene |
ENSMUSG00000000606 |
Gene Name |
vomeronasal 2, receptor 88 |
Synonyms |
V2r13, V2r3 |
MMRRC Submission |
039675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R1639 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51654244 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 542
(D542G)
|
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: D542G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022438 Gene: ENSMUSG00000000606 AA Change: D542G
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 benign
Transcript: ENSMUST00000159674
AA Change: D534G
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125126 Gene: ENSMUSG00000000606 AA Change: D534G
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 |
probably damaging
Transcript: ENSMUST00000228139
AA Change: D535G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
96% (66/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
C |
A |
2: 155,398,828 (GRCm39) |
T425N |
probably benign |
Het |
Adam18 |
T |
A |
8: 25,142,168 (GRCm39) |
I203L |
probably benign |
Het |
Amigo2 |
A |
G |
15: 97,143,879 (GRCm39) |
M181T |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,277,280 (GRCm39) |
I1045N |
probably damaging |
Het |
Ap3d1 |
C |
T |
10: 80,565,844 (GRCm39) |
V108I |
probably damaging |
Het |
Arl8a |
C |
T |
1: 135,080,561 (GRCm39) |
R57* |
probably null |
Het |
Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
Brpf3 |
T |
C |
17: 29,043,042 (GRCm39) |
|
probably null |
Het |
C2 |
T |
C |
17: 35,091,379 (GRCm39) |
K95E |
probably benign |
Het |
Cdk19 |
T |
C |
10: 40,352,965 (GRCm39) |
|
probably null |
Het |
Cebpz |
T |
A |
17: 79,242,035 (GRCm39) |
I540L |
possibly damaging |
Het |
Cep128 |
A |
G |
12: 91,333,142 (GRCm39) |
V41A |
probably damaging |
Het |
Cog7 |
T |
C |
7: 121,580,642 (GRCm39) |
E56G |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,310 (GRCm39) |
V127A |
probably benign |
Het |
Cyp2b23 |
A |
G |
7: 26,385,842 (GRCm39) |
V5A |
possibly damaging |
Het |
Cyp8b1 |
A |
G |
9: 121,743,956 (GRCm39) |
Y459H |
probably benign |
Het |
Dbpht2 |
A |
G |
12: 74,345,932 (GRCm39) |
|
noncoding transcript |
Het |
Ddx24 |
T |
C |
12: 103,377,578 (GRCm39) |
|
probably null |
Het |
Dgki |
C |
T |
6: 36,914,299 (GRCm39) |
C757Y |
probably damaging |
Het |
Eef2k |
T |
A |
7: 120,485,051 (GRCm39) |
L306H |
probably damaging |
Het |
Ephb2 |
T |
C |
4: 136,421,216 (GRCm39) |
N378S |
probably benign |
Het |
Espl1 |
C |
T |
15: 102,229,149 (GRCm39) |
T1767I |
probably damaging |
Het |
Fbn2 |
C |
A |
18: 58,191,534 (GRCm39) |
A1530S |
probably benign |
Het |
Fndc11 |
A |
G |
2: 180,863,374 (GRCm39) |
S60G |
possibly damaging |
Het |
Glb1l |
G |
T |
1: 75,176,245 (GRCm39) |
Q612K |
probably benign |
Het |
Gpsm1 |
A |
G |
2: 26,235,199 (GRCm39) |
E371G |
probably damaging |
Het |
Gtpbp2 |
G |
A |
17: 46,476,697 (GRCm39) |
|
probably null |
Het |
Itch |
A |
G |
2: 155,020,945 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
C |
13: 114,993,832 (GRCm39) |
T774A |
probably benign |
Het |
Kit |
A |
G |
5: 75,813,467 (GRCm39) |
I881V |
probably damaging |
Het |
Lpar5 |
T |
C |
6: 125,058,564 (GRCm39) |
L95P |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,430,529 (GRCm39) |
T1511A |
possibly damaging |
Het |
Mgat4c |
T |
C |
10: 102,214,142 (GRCm39) |
Y42H |
probably damaging |
Het |
Mpp3 |
G |
T |
11: 101,914,268 (GRCm39) |
T109K |
probably damaging |
Het |
Msantd4 |
A |
G |
9: 4,385,199 (GRCm39) |
E308G |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,857,530 (GRCm39) |
S1085P |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,840,987 (GRCm39) |
H956R |
probably benign |
Het |
Ncoa7 |
A |
C |
10: 30,577,988 (GRCm39) |
L132R |
probably damaging |
Het |
Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
Or4a81 |
T |
C |
2: 89,619,589 (GRCm39) |
T36A |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,404,351 (GRCm39) |
V2327M |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,887,436 (GRCm39) |
Y59H |
probably damaging |
Het |
Sema4c |
A |
T |
1: 36,592,615 (GRCm39) |
F152I |
probably benign |
Het |
Slit2 |
A |
T |
5: 48,416,996 (GRCm39) |
Y1016F |
probably damaging |
Het |
Spata31d1c |
T |
A |
13: 65,183,853 (GRCm39) |
V465D |
probably benign |
Het |
Ssc5d |
T |
C |
7: 4,931,416 (GRCm39) |
C208R |
probably damaging |
Het |
Stambpl1 |
T |
G |
19: 34,213,707 (GRCm39) |
V312G |
probably benign |
Het |
Stim1 |
T |
A |
7: 102,003,748 (GRCm39) |
D60E |
probably benign |
Het |
Syt13 |
T |
A |
2: 92,776,316 (GRCm39) |
V201D |
probably benign |
Het |
Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
Tex15 |
T |
C |
8: 34,060,845 (GRCm39) |
S366P |
possibly damaging |
Het |
Tex56 |
T |
C |
13: 35,128,233 (GRCm39) |
I150T |
possibly damaging |
Het |
Tpte |
G |
A |
8: 22,810,913 (GRCm39) |
R190H |
probably benign |
Het |
Vmn1r4 |
T |
C |
6: 56,934,060 (GRCm39) |
V188A |
probably damaging |
Het |
Vps33b |
T |
A |
7: 79,934,101 (GRCm39) |
I257N |
probably damaging |
Het |
Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
Zc3h11a |
G |
T |
1: 133,552,446 (GRCm39) |
Q554K |
probably benign |
Het |
Zfp947 |
T |
C |
17: 22,365,074 (GRCm39) |
K200R |
probably benign |
Het |
Zscan12 |
T |
A |
13: 21,553,156 (GRCm39) |
C327S |
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 |
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 |
|
|
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'- GCAGGTGTCACACAAACATTCTTTTGG -3'
(R):5'- CATATTGTGGGAGAAACGCCTTGATTG -3'
Sequencing Primer
(F):5'- GTGCCTGAAACCTTTAAGTAATACAG -3'
(R):5'- CGCCTTGATTGAAGAAGATATTGG -3'
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Posted On |
2014-04-24 |