Incidental Mutation 'R7258:Vmn2r93'
ID |
564446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r93
|
Ensembl Gene |
ENSMUSG00000079698 |
Gene Name |
vomeronasal 2, receptor 93 |
Synonyms |
EG627132 |
MMRRC Submission |
045386-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R7258 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 18525403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 354
(L354V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079206]
[ENSMUST00000231879]
[ENSMUST00000231938]
|
AlphaFold |
L7N1Z9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079206
AA Change: L354V
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000078200 Gene: ENSMUSG00000079698 AA Change: L354V
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 |
possibly damaging
Transcript: ENSMUST00000231879
AA Change: L354V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231938
AA Change: L354V
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
A |
C |
8: 88,312,805 (GRCm39) |
S197R |
probably damaging |
Het |
Abcc12 |
T |
C |
8: 87,287,486 (GRCm39) |
R120G |
possibly damaging |
Het |
Abhd14b |
A |
G |
9: 106,327,418 (GRCm39) |
I67V |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,518,115 (GRCm39) |
V62E |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
Ccr5 |
A |
T |
9: 123,925,311 (GRCm39) |
K305* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,292,518 (GRCm39) |
H339R |
probably damaging |
Het |
Cdhr18 |
A |
T |
14: 13,899,648 (GRCm38) |
F91L |
|
Het |
Cep290 |
T |
G |
10: 100,334,970 (GRCm39) |
M330R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,115,004 (GRCm39) |
Y901C |
probably benign |
Het |
Ddx54 |
T |
G |
5: 120,758,812 (GRCm39) |
Y352D |
probably damaging |
Het |
Defa35 |
A |
T |
8: 21,555,245 (GRCm39) |
H55L |
possibly damaging |
Het |
Dnmt3b |
T |
A |
2: 153,525,519 (GRCm39) |
|
probably null |
Het |
Enpep |
A |
C |
3: 129,125,724 (GRCm39) |
L136R |
probably benign |
Het |
Epb41l2 |
G |
A |
10: 25,360,185 (GRCm39) |
A516T |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,305,764 (GRCm39) |
Q13L |
probably benign |
Het |
Frmpd1 |
C |
A |
4: 45,269,974 (GRCm39) |
D271E |
possibly damaging |
Het |
Gbp5 |
T |
A |
3: 142,212,542 (GRCm39) |
L410H |
probably damaging |
Het |
Gipc2 |
T |
C |
3: 151,871,352 (GRCm39) |
E58G |
probably damaging |
Het |
Gm6309 |
A |
T |
5: 146,105,106 (GRCm39) |
V269E |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,723,914 (GRCm39) |
T735S |
probably damaging |
Het |
H6pd |
T |
C |
4: 150,080,819 (GRCm39) |
M9V |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,591,574 (GRCm39) |
I1875T |
probably benign |
Het |
Hrc |
T |
A |
7: 44,985,720 (GRCm39) |
D290E |
possibly damaging |
Het |
Iftap |
T |
C |
2: 101,440,937 (GRCm39) |
D22G |
probably null |
Het |
Ippk |
C |
A |
13: 49,587,338 (GRCm39) |
Q136K |
probably benign |
Het |
Kcnv1 |
T |
C |
15: 44,972,711 (GRCm39) |
T391A |
probably damaging |
Het |
Kdm5b |
A |
C |
1: 134,548,759 (GRCm39) |
E1088A |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,625,101 (GRCm39) |
A432V |
probably benign |
Het |
Ly86 |
A |
G |
13: 37,529,473 (GRCm39) |
D20G |
probably benign |
Het |
Myo1g |
A |
G |
11: 6,459,416 (GRCm39) |
I818T |
possibly damaging |
Het |
Nms |
A |
G |
1: 38,986,051 (GRCm39) |
T121A |
probably benign |
Het |
Or1e31 |
T |
G |
11: 73,690,206 (GRCm39) |
I126L |
probably damaging |
Het |
Or1j4 |
T |
A |
2: 36,740,352 (GRCm39) |
I98K |
probably damaging |
Het |
Or51af1 |
G |
C |
7: 103,141,796 (GRCm39) |
C96W |
probably damaging |
Het |
Or6b3 |
A |
T |
1: 92,438,898 (GRCm39) |
I284N |
possibly damaging |
Het |
Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
Or8k37 |
T |
A |
2: 86,469,345 (GRCm39) |
K236* |
probably null |
Het |
Pcdhb9 |
T |
C |
18: 37,535,167 (GRCm39) |
L387P |
probably damaging |
Het |
Pcsk1 |
G |
A |
13: 75,241,305 (GRCm39) |
R95H |
probably damaging |
Het |
Pde11a |
T |
C |
2: 75,970,250 (GRCm39) |
D502G |
possibly damaging |
Het |
Plekhg2 |
T |
C |
7: 28,064,203 (GRCm39) |
D446G |
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
Rasal2 |
A |
T |
1: 156,985,270 (GRCm39) |
L826M |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Sin3b |
T |
C |
8: 73,476,836 (GRCm39) |
C757R |
probably benign |
Het |
Slc41a1 |
T |
A |
1: 131,769,780 (GRCm39) |
V300D |
probably benign |
Het |
Snorc |
A |
C |
1: 87,402,789 (GRCm39) |
I40L |
probably benign |
Het |
Snrpa1 |
T |
C |
7: 65,719,891 (GRCm39) |
F162L |
probably damaging |
Het |
Sox30 |
C |
A |
11: 45,871,379 (GRCm39) |
A78E |
unknown |
Het |
Ssc4d |
G |
T |
5: 135,991,941 (GRCm39) |
A401E |
probably damaging |
Het |
Steap3 |
A |
G |
1: 120,171,716 (GRCm39) |
F130L |
possibly damaging |
Het |
Stx5a |
A |
G |
19: 8,732,271 (GRCm39) |
|
probably null |
Het |
Tgfbr2 |
A |
T |
9: 115,958,898 (GRCm39) |
I172N |
probably damaging |
Het |
Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
Tmprss11c |
A |
G |
5: 86,419,272 (GRCm39) |
S96P |
probably damaging |
Het |
Trpa1 |
T |
G |
1: 14,973,473 (GRCm39) |
T282P |
probably damaging |
Het |
Uba5 |
A |
T |
9: 103,940,132 (GRCm39) |
V5E |
unknown |
Het |
Ugt2b36 |
A |
T |
5: 87,228,762 (GRCm39) |
L427H |
probably damaging |
Het |
Utp14b |
T |
A |
1: 78,642,691 (GRCm39) |
H196Q |
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,380,848 (GRCm39) |
L348F |
probably damaging |
Het |
Wwc2 |
T |
A |
8: 48,296,034 (GRCm39) |
N1079Y |
unknown |
Het |
Zfp653 |
T |
C |
9: 21,977,116 (GRCm39) |
D145G |
probably benign |
Het |
Zfp777 |
T |
C |
6: 48,002,731 (GRCm39) |
E453G |
probably damaging |
Het |
Zfp936 |
T |
A |
7: 42,839,803 (GRCm39) |
H423Q |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,514,151 (GRCm39) |
Y496N |
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 |
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'- CTGGGTCATGAACACTGAACAC -3'
(R):5'- GTACCTGCCATGGAAAGAACAC -3'
Sequencing Primer
(F):5'- AGCACCATTACAGGGAGA -3'
(R):5'- CTGAAGTCTCATCTCATGGAGGC -3'
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Posted On |
2019-06-26 |