Incidental Mutation 'R5063:Vmn2r88'
| ID |
386765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| MMRRC Submission |
042653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R5063 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51648603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 49
(Y49C)
|
| 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: Y49C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: Y49C
| 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: Y49C
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: Y49C
| 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: Y24C
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: Y24C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228139
AA Change: Y49C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,315 (GRCm39) |
H970R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,471,469 (GRCm39) |
M1496V |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,763,296 (GRCm39) |
T851S |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,874,394 (GRCm39) |
I593T |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,340 (GRCm39) |
S1782P |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,629,074 (GRCm39) |
R578* |
probably null |
Het |
| Casp8 |
A |
T |
1: 58,883,533 (GRCm39) |
H280L |
probably damaging |
Het |
| Cd274 |
G |
T |
19: 29,361,543 (GRCm39) |
D284Y |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,976,715 (GRCm39) |
C2441S |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,272 (GRCm39) |
K118* |
probably null |
Het |
| Chst12 |
G |
T |
5: 140,510,167 (GRCm39) |
E265* |
probably null |
Het |
| Cp |
C |
A |
3: 20,043,379 (GRCm39) |
Q22K |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,222,306 (GRCm39) |
W404R |
probably damaging |
Het |
| Dnajb13 |
T |
G |
7: 100,160,030 (GRCm39) |
E69A |
probably damaging |
Het |
| Dzip1l |
A |
G |
9: 99,549,705 (GRCm39) |
E725G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,774,117 (GRCm39) |
K373* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,195,266 (GRCm39) |
T322I |
unknown |
Het |
| Gbp9 |
T |
C |
5: 105,233,028 (GRCm39) |
Y208C |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,289,425 (GRCm39) |
K418N |
probably damaging |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,472,914 (GRCm39) |
D251V |
probably damaging |
Het |
| Itpr3 |
A |
T |
17: 27,308,885 (GRCm39) |
I363F |
possibly damaging |
Het |
| Khnyn |
A |
T |
14: 56,124,660 (GRCm39) |
K305* |
probably null |
Het |
| Klf17 |
A |
G |
4: 117,617,856 (GRCm39) |
V167A |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,071,795 (GRCm39) |
D369G |
probably benign |
Het |
| Lrrc31 |
A |
G |
3: 30,744,085 (GRCm39) |
V141A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,261,164 (GRCm39) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,113,224 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,785,009 (GRCm39) |
S216T |
possibly damaging |
Het |
| Or2t6 |
A |
T |
14: 14,175,593 (GRCm38) |
M163K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,191 (GRCm39) |
I50V |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppy |
A |
G |
11: 101,991,525 (GRCm39) |
Y5H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,081,734 (GRCm39) |
L112S |
probably damaging |
Het |
| Ptov1 |
A |
G |
7: 44,515,026 (GRCm39) |
I195T |
possibly damaging |
Het |
| Rassf10 |
C |
A |
7: 112,553,631 (GRCm39) |
D77E |
probably benign |
Het |
| Slc25a45 |
T |
C |
19: 5,934,490 (GRCm39) |
S153P |
possibly damaging |
Het |
| Slco1a5 |
G |
A |
6: 142,204,791 (GRCm39) |
R126C |
probably damaging |
Het |
| Srebf2 |
T |
C |
15: 82,061,652 (GRCm39) |
V366A |
probably benign |
Het |
| St6galnac5 |
T |
C |
3: 152,686,772 (GRCm39) |
S61G |
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,088,084 (GRCm39) |
C818S |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,072,638 (GRCm39) |
F2728L |
possibly damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,382,558 (GRCm39) |
F190Y |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,794,298 (GRCm39) |
L476P |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,689 (GRCm39) |
K248R |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,489,668 (GRCm39) |
F316I |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,372 (GRCm39) |
M477L |
probably benign |
Het |
| Vmn2r83 |
A |
C |
10: 79,314,921 (GRCm39) |
I390L |
probably benign |
Het |
| Zdhhc4 |
T |
A |
5: 143,302,377 (GRCm39) |
I318F |
probably damaging |
Het |
| Zmat4 |
A |
T |
8: 24,238,457 (GRCm39) |
D27V |
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 |
|
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'- ATCTCCAGACAGCAGTAGCC -3'
(R):5'- CAGGGGTTCTTAAAGTTACATTGTGAG -3'
Sequencing Primer
(F):5'- GATTTCACAACAGCTCCATCTTAG -3'
(R):5'- CATTGTGAGAAAGAGAACAGAACCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation