Incidental Mutation 'R8376:Vmn2r93'
| ID |
646708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r93
|
| Ensembl Gene |
ENSMUSG00000079698 |
| Gene Name |
vomeronasal 2, receptor 93 |
| Synonyms |
EG627132 |
| MMRRC Submission |
067744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18525230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 296
(V296D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079206]
[ENSMUST00000231879]
[ENSMUST00000231938]
|
| AlphaFold |
L7N1Z9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079206
AA Change: V296D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078200
Gene: ENSMUSG00000079698
AA Change: V296D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
82 |
453 |
5.9e-40 |
PFAM |
|
Pfam:NCD3G
|
509 |
562 |
2.6e-21 |
PFAM |
|
Pfam:7tm_3
|
594 |
830 |
1.5e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231879
AA Change: V296D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231938
AA Change: V296D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
C |
8: 25,409,936 (GRCm39) |
I173S |
possibly damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,610,520 (GRCm39) |
D599G |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atp12a |
G |
T |
14: 56,612,083 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
T |
17: 74,896,635 (GRCm39) |
T1027M |
probably benign |
Het |
| Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,888,414 (GRCm39) |
N67K |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,832,073 (GRCm39) |
R745H |
probably damaging |
Het |
| Cacnb4 |
G |
A |
2: 52,354,665 (GRCm39) |
Q238* |
probably null |
Het |
| Cdc42 |
G |
A |
4: 137,056,205 (GRCm39) |
T102I |
probably benign |
Het |
| Cfhr1 |
A |
C |
1: 139,475,549 (GRCm39) |
C307W |
unknown |
Het |
| Ddb1 |
G |
A |
19: 10,596,669 (GRCm39) |
V463M |
probably damaging |
Het |
| Dhx30 |
G |
A |
9: 109,917,707 (GRCm39) |
R365C |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,023,303 (GRCm39) |
F1005L |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,672,653 (GRCm39) |
V144A |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,773,491 (GRCm39) |
N77Y |
probably damaging |
Het |
| Fsip1 |
C |
T |
2: 118,063,519 (GRCm39) |
V317I |
possibly damaging |
Het |
| Gc |
G |
A |
5: 89,586,118 (GRCm39) |
Q341* |
probably null |
Het |
| Gpt2 |
A |
T |
8: 86,219,694 (GRCm39) |
I47F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,968 (GRCm39) |
S503T |
probably benign |
Het |
| Kcnn4 |
C |
A |
7: 24,077,051 (GRCm39) |
T200K |
possibly damaging |
Het |
| Krtap4-7 |
A |
G |
11: 99,534,753 (GRCm39) |
S37P |
unknown |
Het |
| Lrrc4b |
T |
C |
7: 44,112,018 (GRCm39) |
V630A |
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,010,671 (GRCm39) |
W773* |
probably null |
Het |
| Mgrn1 |
T |
A |
16: 4,733,630 (GRCm39) |
L192Q |
probably damaging |
Het |
| Mtx1 |
A |
G |
3: 89,121,478 (GRCm39) |
V52A |
probably benign |
Het |
| Myc |
A |
T |
15: 61,859,395 (GRCm39) |
N24Y |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,551,076 (GRCm39) |
S2696L |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 87,023,592 (GRCm39) |
N493D |
probably damaging |
Het |
| Or52w1 |
C |
A |
7: 105,017,847 (GRCm39) |
P105T |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,052,661 (GRCm39) |
G403D |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,518,684 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,426,947 (GRCm39) |
I703V |
possibly damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pkd1l3 |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
8: 110,350,420 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,944,071 (GRCm39) |
S36P |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,196,179 (GRCm39) |
F279L |
probably damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,821,638 (GRCm39) |
E99D |
probably benign |
Het |
| Rnf4 |
C |
T |
5: 34,508,701 (GRCm39) |
R188W |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGAGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
G |
14: 103,809,451 (GRCm39) |
S264G |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,144,376 (GRCm39) |
Q1712R |
possibly damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,718,115 (GRCm39) |
Y255H |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,993,615 (GRCm39) |
G525D |
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,981,788 (GRCm39) |
V214A |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,889,853 (GRCm39) |
T428A |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,112,455 (GRCm39) |
K151E |
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,253,721 (GRCm39) |
D1468V |
probably benign |
Het |
| Ubtf |
A |
C |
11: 102,199,737 (GRCm39) |
Y463D |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,314,697 (GRCm39) |
M106L |
probably damaging |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,869 (GRCm39) |
I185L |
probably benign |
Het |
| Zfp65 |
A |
C |
13: 67,857,037 (GRCm39) |
Y81D |
probably damaging |
Het |
| Zw10 |
A |
T |
9: 48,988,783 (GRCm39) |
Y683F |
possibly damaging |
Het |
|
| Other mutations in Vmn2r93 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Vmn2r93
|
APN |
17 |
18,546,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Vmn2r93
|
APN |
17 |
18,536,906 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01328:Vmn2r93
|
APN |
17 |
18,545,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Vmn2r93
|
APN |
17 |
18,525,510 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01382:Vmn2r93
|
APN |
17 |
18,533,578 (GRCm39) |
nonsense |
probably null |
|
|
IGL01463:Vmn2r93
|
APN |
17 |
18,525,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Vmn2r93
|
APN |
17 |
18,546,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Vmn2r93
|
APN |
17 |
18,545,770 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02686:Vmn2r93
|
APN |
17 |
18,533,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02720:Vmn2r93
|
APN |
17 |
18,525,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Vmn2r93
|
APN |
17 |
18,525,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4576001:Vmn2r93
|
UTSW |
17 |
18,533,473 (GRCm39) |
missense |
probably benign |
|
|
R0067:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Vmn2r93
|
UTSW |
17 |
18,525,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Vmn2r93
|
UTSW |
17 |
18,525,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0488:Vmn2r93
|
UTSW |
17 |
18,546,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Vmn2r93
|
UTSW |
17 |
18,546,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0668:Vmn2r93
|
UTSW |
17 |
18,518,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0850:Vmn2r93
|
UTSW |
17 |
18,525,279 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0924:Vmn2r93
|
UTSW |
17 |
18,524,443 (GRCm39) |
missense |
probably benign |
|
|
R0947:Vmn2r93
|
UTSW |
17 |
18,524,343 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1124:Vmn2r93
|
UTSW |
17 |
18,518,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1584:Vmn2r93
|
UTSW |
17 |
18,525,413 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1943:Vmn2r93
|
UTSW |
17 |
18,546,063 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2012:Vmn2r93
|
UTSW |
17 |
18,536,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2018:Vmn2r93
|
UTSW |
17 |
18,546,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Vmn2r93
|
UTSW |
17 |
18,525,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2373:Vmn2r93
|
UTSW |
17 |
18,518,665 (GRCm39) |
missense |
probably benign |
|
|
R2864:Vmn2r93
|
UTSW |
17 |
18,546,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Vmn2r93
|
UTSW |
17 |
18,525,092 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4446:Vmn2r93
|
UTSW |
17 |
18,524,312 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4537:Vmn2r93
|
UTSW |
17 |
18,525,194 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4674:Vmn2r93
|
UTSW |
17 |
18,525,255 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4726:Vmn2r93
|
UTSW |
17 |
18,536,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Vmn2r93
|
UTSW |
17 |
18,524,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4984:Vmn2r93
|
UTSW |
17 |
18,533,389 (GRCm39) |
splice site |
probably null |
|
|
R5111:Vmn2r93
|
UTSW |
17 |
18,546,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5749:Vmn2r93
|
UTSW |
17 |
18,518,546 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5918:Vmn2r93
|
UTSW |
17 |
18,546,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Vmn2r93
|
UTSW |
17 |
18,546,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Vmn2r93
|
UTSW |
17 |
18,545,958 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6283:Vmn2r93
|
UTSW |
17 |
18,524,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6680:Vmn2r93
|
UTSW |
17 |
18,536,920 (GRCm39) |
nonsense |
probably null |
|
|
R6876:Vmn2r93
|
UTSW |
17 |
18,525,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6963:Vmn2r93
|
UTSW |
17 |
18,536,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Vmn2r93
|
UTSW |
17 |
18,524,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Vmn2r93
|
UTSW |
17 |
18,533,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7034:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7036:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7246:Vmn2r93
|
UTSW |
17 |
18,546,012 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7258:Vmn2r93
|
UTSW |
17 |
18,525,403 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7323:Vmn2r93
|
UTSW |
17 |
18,533,497 (GRCm39) |
nonsense |
probably null |
|
|
R7325:Vmn2r93
|
UTSW |
17 |
18,524,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7390:Vmn2r93
|
UTSW |
17 |
18,525,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Vmn2r93
|
UTSW |
17 |
18,546,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7448:Vmn2r93
|
UTSW |
17 |
18,546,248 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7453:Vmn2r93
|
UTSW |
17 |
18,533,580 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7562:Vmn2r93
|
UTSW |
17 |
18,518,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7662:Vmn2r93
|
UTSW |
17 |
18,525,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7682:Vmn2r93
|
UTSW |
17 |
18,525,583 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7704:Vmn2r93
|
UTSW |
17 |
18,536,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7772:Vmn2r93
|
UTSW |
17 |
18,533,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7957:Vmn2r93
|
UTSW |
17 |
18,545,954 (GRCm39) |
nonsense |
probably null |
|
|
R8276:Vmn2r93
|
UTSW |
17 |
18,525,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8290:Vmn2r93
|
UTSW |
17 |
18,524,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Vmn2r93
|
UTSW |
17 |
18,546,353 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8870:Vmn2r93
|
UTSW |
17 |
18,525,320 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8925:Vmn2r93
|
UTSW |
17 |
18,546,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8927:Vmn2r93
|
UTSW |
17 |
18,546,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8954:Vmn2r93
|
UTSW |
17 |
18,546,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9038:Vmn2r93
|
UTSW |
17 |
18,524,471 (GRCm39) |
missense |
probably benign |
|
|
R9131:Vmn2r93
|
UTSW |
17 |
18,546,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9205:Vmn2r93
|
UTSW |
17 |
18,524,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Vmn2r93
|
UTSW |
17 |
18,518,562 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Vmn2r93
|
UTSW |
17 |
18,546,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r93
|
UTSW |
17 |
18,525,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAAGAATCTGCATGGCTTTTG -3'
(R):5'- GTGAGCCAGAGCATATACACC -3'
Sequencing Primer
(F):5'- GGCTTTTGTAAAAATGATCCCAGCC -3'
(R):5'- AATACTTGTGCTCTCTTCAGTCATAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation