Incidental Mutation 'R5918:Vmn2r93'
ID |
461495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r93
|
Ensembl Gene |
ENSMUSG00000079698 |
Gene Name |
vomeronasal 2, receptor 93 |
Synonyms |
EG627132 |
MMRRC Submission |
044115-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R5918 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18546030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 634
(L634P)
|
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: L634P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078200 Gene: ENSMUSG00000079698 AA Change: L634P
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 benign
Transcript: ENSMUST00000231879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231938
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
93% (66/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
T |
5: 36,131,869 (GRCm39) |
I399F |
possibly damaging |
Het |
Aknad1 |
C |
T |
3: 108,659,703 (GRCm39) |
P239L |
probably benign |
Het |
Ankrd9 |
A |
G |
12: 110,943,200 (GRCm39) |
V245A |
probably benign |
Het |
Anxa1 |
T |
C |
19: 20,355,857 (GRCm39) |
|
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,543,387 (GRCm39) |
K454R |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,708,064 (GRCm39) |
T227A |
probably benign |
Het |
Bbs2 |
C |
T |
8: 94,824,931 (GRCm39) |
R17H |
probably damaging |
Het |
Bcl2l12 |
A |
G |
7: 44,640,888 (GRCm39) |
|
probably benign |
Het |
C1qtnf9 |
G |
T |
14: 61,009,737 (GRCm39) |
|
probably benign |
Het |
Ccdc38 |
C |
G |
10: 93,406,748 (GRCm39) |
Y219* |
probably null |
Het |
Ceacam3 |
G |
T |
7: 16,893,670 (GRCm39) |
D394Y |
probably damaging |
Het |
Crip1 |
A |
C |
12: 113,117,287 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,260,803 (GRCm39) |
V1987A |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,725,025 (GRCm39) |
C4376F |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,763,332 (GRCm39) |
F446L |
probably damaging |
Het |
Garin1a |
A |
G |
6: 29,285,942 (GRCm39) |
R76G |
probably null |
Het |
Gm14322 |
A |
G |
2: 177,411,499 (GRCm39) |
D103G |
probably benign |
Het |
Gpa33 |
T |
C |
1: 165,958,107 (GRCm39) |
|
probably null |
Het |
Lactb2 |
T |
A |
1: 13,720,954 (GRCm39) |
I93F |
probably benign |
Het |
Lifr |
A |
T |
15: 7,188,897 (GRCm39) |
T93S |
probably benign |
Het |
Lmbr1l |
A |
T |
15: 98,810,308 (GRCm39) |
I101N |
probably damaging |
Het |
Lrrc8c |
G |
A |
5: 105,756,117 (GRCm39) |
V631M |
possibly damaging |
Het |
Mctp2 |
A |
C |
7: 71,878,288 (GRCm39) |
D263E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,307,051 (GRCm39) |
I1627N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,087,906 (GRCm39) |
Y5188C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,460,048 (GRCm39) |
|
probably benign |
Het |
Nr6a1 |
T |
C |
2: 38,629,103 (GRCm39) |
D250G |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,987,128 (GRCm39) |
E168G |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,944 (GRCm39) |
V205A |
probably damaging |
Het |
Or2d2b |
T |
A |
7: 106,705,828 (GRCm39) |
Q80L |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,425 (GRCm39) |
I83T |
probably benign |
Het |
Or7g22 |
T |
C |
9: 19,048,684 (GRCm39) |
Y132H |
probably damaging |
Het |
Or9i1b |
T |
A |
19: 13,897,139 (GRCm39) |
F252I |
probably damaging |
Het |
Pik3r6 |
C |
T |
11: 68,416,497 (GRCm39) |
Q29* |
probably null |
Het |
Ppargc1a |
C |
T |
5: 51,620,579 (GRCm39) |
|
probably benign |
Het |
Ppl |
C |
T |
16: 4,922,765 (GRCm39) |
R242H |
probably benign |
Het |
Ppp1r37 |
G |
T |
7: 19,266,036 (GRCm39) |
Q577K |
probably benign |
Het |
Prcd |
A |
G |
11: 116,548,366 (GRCm39) |
E25G |
probably damaging |
Het |
Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
Ptgs1 |
A |
C |
2: 36,141,089 (GRCm39) |
E512A |
probably damaging |
Het |
Radil |
T |
G |
5: 142,473,357 (GRCm39) |
I535L |
probably benign |
Het |
Rbl2 |
G |
T |
8: 91,816,758 (GRCm39) |
V373F |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,708,577 (GRCm39) |
Y4802C |
probably benign |
Het |
Sdc2 |
A |
G |
15: 33,028,313 (GRCm39) |
T144A |
probably benign |
Het |
Senp6 |
T |
C |
9: 80,021,398 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
T |
C |
7: 29,096,631 (GRCm39) |
D531G |
probably damaging |
Het |
Slc22a27 |
C |
A |
19: 7,887,411 (GRCm39) |
C189F |
possibly damaging |
Het |
Srcin1 |
T |
C |
11: 97,424,323 (GRCm39) |
|
probably null |
Het |
Svep1 |
C |
T |
4: 58,069,345 (GRCm39) |
E2814K |
possibly damaging |
Het |
Tjp3 |
T |
G |
10: 81,113,746 (GRCm39) |
H504P |
probably benign |
Het |
Tmprss4 |
T |
A |
9: 45,086,414 (GRCm39) |
K378* |
probably null |
Het |
Tns4 |
C |
T |
11: 98,964,497 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,580,298 (GRCm39) |
T15205A |
possibly damaging |
Het |
Ush2a |
G |
T |
1: 188,089,011 (GRCm39) |
G322V |
probably benign |
Het |
Vac14 |
A |
T |
8: 111,363,104 (GRCm39) |
|
probably null |
Het |
Vmn1r175 |
T |
G |
7: 23,508,372 (GRCm39) |
D85A |
probably damaging |
Het |
Zeb2 |
A |
T |
2: 45,001,271 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
T |
A |
11: 73,974,086 (GRCm39) |
H118Q |
possibly damaging |
Het |
Zfp945 |
T |
A |
17: 23,069,955 (GRCm39) |
H648L |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
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 |
R8376:Vmn2r93
|
UTSW |
17 |
18,525,230 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGGCCTATGATGAACCCCTG -3'
(R):5'- TTCCACAAAGAAGAAGTTGGATCAG -3'
Sequencing Primer
(F):5'- CCTGGGGATGGCTCTTGC -3'
(R):5'- ATAGGAATGATGTAGTTTGGACCCC -3'
|
Posted On |
2017-02-28 |