Incidental Mutation 'R7390:Vmn2r93'
| ID |
573393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r93
|
| Ensembl Gene |
ENSMUSG00000079698 |
| Gene Name |
vomeronasal 2, receptor 93 |
| Synonyms |
EG627132 |
| MMRRC Submission |
045472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18525329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 329
(E329V)
|
| 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: E329V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078200
Gene: ENSMUSG00000079698
AA Change: E329V
| 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: E329V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231938
AA Change: E329V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,152 (GRCm39) |
D291E |
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,036,487 (GRCm39) |
V541I |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,822,404 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
A |
G |
16: 56,553,207 (GRCm39) |
I630T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,569 (GRCm39) |
I618V |
probably benign |
Het |
| Amotl2 |
T |
A |
9: 102,608,889 (GRCm39) |
V801E |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,430,779 (GRCm39) |
T1002A |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,726 (GRCm39) |
N293S |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,510,044 (GRCm39) |
C854R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,736,304 (GRCm39) |
E1225G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,741,833 (GRCm39) |
E2146G |
possibly damaging |
Het |
| Ces1a |
A |
C |
8: 93,771,469 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
G |
1: 172,368,925 (GRCm39) |
D444E |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,843,802 (GRCm39) |
V296A |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,552,931 (GRCm39) |
R1011H |
probably benign |
Het |
| Cops4 |
C |
T |
5: 100,691,741 (GRCm39) |
R347C |
probably damaging |
Het |
| D16Ertd472e |
G |
T |
16: 78,344,576 (GRCm39) |
D177E |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,600 (GRCm39) |
V195A |
possibly damaging |
Het |
| Dipk2a |
A |
G |
9: 94,419,436 (GRCm39) |
S165P |
probably damaging |
Het |
| Dpagt1 |
G |
A |
9: 44,243,319 (GRCm39) |
V285I |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,323,552 (GRCm39) |
A232S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,615,411 (GRCm39) |
I726T |
possibly damaging |
Het |
| Ephx2 |
G |
A |
14: 66,347,904 (GRCm39) |
|
|
Het |
| Fat1 |
T |
C |
8: 45,405,511 (GRCm39) |
V754A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,077,314 (GRCm39) |
S953T |
possibly damaging |
Het |
| Gm1123 |
T |
C |
9: 98,893,033 (GRCm39) |
N315S |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,178,202 (GRCm39) |
E37G |
|
Het |
| Gpr139 |
T |
A |
7: 118,743,835 (GRCm39) |
Q250L |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,543,532 (GRCm39) |
R283C |
probably damaging |
Het |
| Haao |
A |
C |
17: 84,154,081 (GRCm39) |
V22G |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,266,490 (GRCm39) |
F1884I |
probably damaging |
Het |
| Hyal3 |
G |
A |
9: 107,462,166 (GRCm39) |
G67S |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,424 (GRCm39) |
I266K |
probably benign |
Het |
| Klhl26 |
A |
C |
8: 70,905,499 (GRCm39) |
L137R |
probably damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,083 (GRCm39) |
|
probably null |
Het |
| Lats1 |
C |
T |
10: 7,577,859 (GRCm39) |
Q328* |
probably null |
Het |
| Lingo3 |
G |
A |
10: 80,670,463 (GRCm39) |
T489I |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,066,261 (GRCm39) |
V65A |
possibly damaging |
Het |
| Lysmd1 |
T |
C |
3: 95,045,795 (GRCm39) |
S211P |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,540,626 (GRCm39) |
S21N |
unknown |
Het |
| Nav1 |
T |
C |
1: 135,512,656 (GRCm39) |
T135A |
probably benign |
Het |
| Nt5c1a |
G |
C |
4: 123,102,272 (GRCm39) |
R66T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,732,024 (GRCm39) |
Y3509H |
unknown |
Het |
| Pkp4 |
G |
A |
2: 59,140,484 (GRCm39) |
G397R |
possibly damaging |
Het |
| Ppp1r21 |
G |
A |
17: 88,856,958 (GRCm39) |
A138T |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,401,642 (GRCm39) |
V136D |
probably benign |
Het |
| Rab11fip3 |
A |
T |
17: 26,287,126 (GRCm39) |
D342E |
possibly damaging |
Het |
| Rcvrn |
T |
A |
11: 67,590,883 (GRCm39) |
W156R |
probably damaging |
Het |
| Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,734,037 (GRCm39) |
D89G |
possibly damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,893,021 (GRCm39) |
V366E |
possibly damaging |
Het |
| Shank3 |
T |
G |
15: 89,433,515 (GRCm39) |
L1420R |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,100 (GRCm39) |
L215* |
probably null |
Het |
| Slc16a13 |
C |
T |
11: 70,109,797 (GRCm39) |
V235I |
probably benign |
Het |
| Slc16a14 |
T |
C |
1: 84,907,187 (GRCm39) |
D29G |
probably benign |
Het |
| Speer1a |
T |
C |
5: 11,394,879 (GRCm39) |
V122A |
probably benign |
Het |
| Spns2 |
T |
A |
11: 72,347,704 (GRCm39) |
T329S |
possibly damaging |
Het |
| Sufu |
G |
A |
19: 46,439,108 (GRCm39) |
|
probably null |
Het |
| Tll2 |
A |
G |
19: 41,108,608 (GRCm39) |
|
probably null |
Het |
| Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
| Trim42 |
A |
C |
9: 97,241,182 (GRCm39) |
N683K |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,394 (GRCm39) |
S270P |
probably damaging |
Het |
| Vmn1r59 |
C |
A |
7: 5,456,986 (GRCm39) |
R258L |
possibly damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,482,851 (GRCm39) |
L41S |
probably benign |
Het |
| Ywhae |
G |
T |
11: 75,655,487 (GRCm39) |
E253* |
probably null |
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 |
|
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'- ATCCCAGCCACATGGACTTC -3'
(R):5'- GTGAGCCAGAGCATATACACC -3'
Sequencing Primer
(F):5'- AGCCACATGGACTTCATACTTTG -3'
(R):5'- AATACTTGTGCTCTCTTCAGTCATAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation