Incidental Mutation 'R6996:Vmn2r93'
| ID |
544248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r93
|
| Ensembl Gene |
ENSMUSG00000079698 |
| Gene Name |
vomeronasal 2, receptor 93 |
| Synonyms |
EG627132 |
| MMRRC Submission |
045102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18518543-18546703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18524903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 187
(Y187C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079206]
[ENSMUST00000231879]
[ENSMUST00000231938]
|
| AlphaFold |
L7N1Z9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079206
AA Change: Y187C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078200
Gene: ENSMUSG00000079698
AA Change: Y187C
| 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: Y187C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231938
AA Change: Y187C
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,296,517 (GRCm39) |
S310L |
probably damaging |
Het |
| Adamts16 |
C |
T |
13: 70,946,157 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
C |
A |
7: 99,240,569 (GRCm39) |
D194E |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,697,051 (GRCm39) |
D217G |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,302,033 (GRCm39) |
I123V |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,180,321 (GRCm39) |
L1833F |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,122,355 (GRCm39) |
Y155C |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,853,380 (GRCm39) |
R126M |
possibly damaging |
Het |
| Cfap99 |
G |
T |
5: 34,484,604 (GRCm39) |
R627L |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,720,030 (GRCm39) |
L369* |
probably null |
Het |
| Erich6 |
A |
C |
3: 58,543,516 (GRCm39) |
F185V |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,853,374 (GRCm39) |
D122G |
unknown |
Het |
| Fank1 |
A |
G |
7: 133,478,627 (GRCm39) |
I230M |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,977 (GRCm39) |
E668D |
unknown |
Het |
| Flg2 |
A |
C |
3: 93,110,256 (GRCm39) |
R761S |
unknown |
Het |
| Gabrr1 |
T |
C |
4: 33,158,157 (GRCm39) |
L260P |
probably damaging |
Het |
| Gfm2 |
G |
A |
13: 97,285,868 (GRCm39) |
R119K |
probably damaging |
Het |
| Gm14226 |
A |
G |
2: 154,866,357 (GRCm39) |
T105A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,997 (GRCm39) |
N357S |
probably damaging |
Het |
| Gm5916 |
G |
A |
9: 36,039,935 (GRCm39) |
L18F |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,790,058 (GRCm39) |
N247K |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,773,355 (GRCm39) |
A240T |
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,774 (GRCm39) |
M148V |
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,102 (GRCm39) |
S126G |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,337,380 (GRCm39) |
I393N |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,993,498 (GRCm39) |
D68G |
possibly damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,675,569 (GRCm39) |
T323A |
possibly damaging |
Het |
| Kcng2 |
T |
C |
18: 80,366,358 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
G |
T |
19: 4,395,669 (GRCm39) |
P321T |
probably benign |
Het |
| Krt31 |
A |
G |
11: 99,938,558 (GRCm39) |
V345A |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,583 (GRCm39) |
L795* |
probably null |
Het |
| Mettl1 |
T |
C |
10: 126,880,887 (GRCm39) |
S193P |
probably benign |
Het |
| Mme |
G |
A |
3: 63,253,523 (GRCm39) |
D456N |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,367 (GRCm39) |
T883A |
probably benign |
Het |
| Mphosph10 |
C |
G |
7: 64,038,669 (GRCm39) |
E293Q |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,557,193 (GRCm39) |
K3033N |
unknown |
Het |
| Myo16 |
C |
T |
8: 10,619,496 (GRCm39) |
T1349M |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,157,746 (GRCm39) |
I233T |
probably benign |
Het |
| Or4p4b-ps1 |
A |
G |
2: 88,454,189 (GRCm39) |
T181A |
unknown |
Het |
| Or52a33 |
T |
G |
7: 103,289,065 (GRCm39) |
N94T |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,246,018 (GRCm39) |
F123L |
probably benign |
Het |
| Or5b111 |
A |
T |
19: 13,291,036 (GRCm39) |
S204R |
probably benign |
Het |
| Or5h22 |
A |
G |
16: 58,894,555 (GRCm39) |
M296T |
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,732 (GRCm39) |
V212E |
probably damaging |
Het |
| Or7c70 |
C |
A |
10: 78,683,351 (GRCm39) |
V133L |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,480 (GRCm39) |
I467V |
probably benign |
Het |
| Parp1 |
A |
T |
1: 180,414,936 (GRCm39) |
N425Y |
possibly damaging |
Het |
| Pcdhgc3 |
T |
A |
18: 37,939,656 (GRCm39) |
V19D |
possibly damaging |
Het |
| Pfkl |
T |
A |
10: 77,833,423 (GRCm39) |
I260F |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,799,046 (GRCm39) |
G1789R |
probably damaging |
Het |
| Pla1a |
G |
A |
16: 38,217,830 (GRCm39) |
A386V |
probably benign |
Het |
| Pml |
A |
G |
9: 58,142,169 (GRCm39) |
L221P |
probably damaging |
Het |
| Rcn2 |
C |
T |
9: 55,964,845 (GRCm39) |
Q268* |
probably null |
Het |
| Reps1 |
T |
A |
10: 17,969,603 (GRCm39) |
D235E |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,824,314 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,118,075 (GRCm39) |
S1433T |
probably damaging |
Het |
| Sde2 |
T |
C |
1: 180,678,754 (GRCm39) |
V6A |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,197,769 (GRCm39) |
R2141S |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,379,640 (GRCm39) |
S1152P |
probably damaging |
Het |
| Slc26a2 |
C |
T |
18: 61,334,926 (GRCm39) |
V176I |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,281 (GRCm39) |
I76T |
possibly damaging |
Het |
| Specc1l |
C |
A |
10: 75,082,113 (GRCm39) |
A520D |
probably benign |
Het |
| Spop |
A |
G |
11: 95,362,136 (GRCm39) |
T56A |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 76,074,786 (GRCm39) |
D4576E |
probably damaging |
Het |
| Tas2r134 |
A |
C |
2: 51,517,601 (GRCm39) |
M27L |
probably benign |
Het |
| Tecta |
A |
C |
9: 42,278,082 (GRCm39) |
I1142S |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,316,611 (GRCm39) |
D311G |
possibly damaging |
Het |
| Tmem123 |
C |
G |
9: 7,791,071 (GRCm39) |
T124R |
possibly damaging |
Het |
| Tmem184b |
A |
T |
15: 79,246,959 (GRCm39) |
L370Q |
probably benign |
Het |
| Trim25 |
T |
A |
11: 88,890,329 (GRCm39) |
N5K |
probably benign |
Het |
| Vpreb1a |
A |
G |
16: 16,686,678 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vpreb1b |
T |
C |
16: 17,798,441 (GRCm39) |
S5P |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,906,888 (GRCm39) |
C939S |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,764 (GRCm39) |
S271R |
probably benign |
Het |
| Zic5 |
A |
T |
14: 122,702,080 (GRCm39) |
M217K |
probably benign |
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 |
|
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'- CCTGCTTGTAAGAGAAAGGTTGTTG -3'
(R):5'- AAAGCCATGCAGATTCTTTTCCTC -3'
Sequencing Primer
(F):5'- GGTTGTTGTAGTAAATGAAAACAGG -3'
(R):5'- CTCCATCTCCTCCCTAAAATCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation