Incidental Mutation 'R4947:Vmn2r112'
| ID |
383530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r112
|
| Ensembl Gene |
ENSMUSG00000094921 |
| Gene Name |
vomeronasal 2, receptor 112 |
| Synonyms |
EG628185 |
| MMRRC Submission |
042544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22820129-22838114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22821860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 179
(H179Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
| AlphaFold |
L7N221 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097381
AA Change: H179Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: H179Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
471 |
2.8e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
5.8e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
6.5e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.4%
|
| Validation Efficiency |
100% (88/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,343 (GRCm39) |
H119L |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,037 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Bcl2a1a |
G |
A |
9: 88,839,335 (GRCm39) |
E78K |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,146,829 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
A |
6: 87,880,455 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
C |
T |
2: 37,685,343 (GRCm39) |
|
probably benign |
Het |
| Cstdc6 |
T |
C |
16: 36,142,127 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,601,012 (GRCm39) |
G584C |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,723,419 (GRCm39) |
N415S |
possibly damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,028,116 (GRCm39) |
T1095S |
unknown |
Het |
| D630045J12Rik |
C |
T |
6: 38,125,478 (GRCm39) |
R1512H |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,272,518 (GRCm39) |
V1078E |
probably benign |
Het |
| Donson |
A |
T |
16: 91,479,439 (GRCm39) |
D366E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,114,201 (GRCm39) |
E1163G |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,237 (GRCm39) |
K601R |
probably benign |
Het |
| Fez1 |
A |
C |
9: 36,780,171 (GRCm39) |
I323L |
probably damaging |
Het |
| Flacc1 |
T |
A |
1: 58,715,698 (GRCm39) |
T173S |
probably benign |
Het |
| Fmnl2 |
T |
G |
2: 52,963,722 (GRCm39) |
S285A |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,884,371 (GRCm39) |
S1194P |
probably damaging |
Het |
| Gm10754 |
A |
T |
10: 97,518,010 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
A |
T |
2: 154,866,879 (GRCm39) |
T279S |
probably benign |
Het |
| Gm16332 |
G |
A |
1: 139,793,730 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21718 |
T |
A |
14: 51,553,416 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,734 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,658,377 (GRCm39) |
F371S |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,481,968 (GRCm39) |
I128V |
probably null |
Het |
| H2-Q3 |
T |
A |
17: 35,578,708 (GRCm39) |
|
noncoding transcript |
Het |
| Ibtk |
T |
C |
9: 85,592,465 (GRCm39) |
T998A |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,583,316 (GRCm39) |
S301P |
probably damaging |
Het |
| Kcnn1 |
C |
A |
8: 71,297,073 (GRCm39) |
A545S |
probably benign |
Het |
| Keap1 |
T |
G |
9: 21,148,849 (GRCm39) |
S53R |
probably benign |
Het |
| Lat |
A |
G |
7: 125,967,110 (GRCm39) |
V138A |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,078,966 (GRCm39) |
N249K |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,769,472 (GRCm39) |
I557V |
probably benign |
Het |
| Maml3 |
A |
G |
3: 51,763,960 (GRCm39) |
F335L |
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,314,420 (GRCm39) |
D265E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,282,222 (GRCm39) |
H35R |
probably benign |
Het |
| Mif4gd |
C |
A |
11: 115,500,463 (GRCm39) |
V32L |
probably benign |
Het |
| Mlana |
T |
C |
19: 29,677,551 (GRCm39) |
S18P |
probably damaging |
Het |
| Mpnd |
T |
A |
17: 56,317,268 (GRCm39) |
|
probably benign |
Het |
| Ms4a4b |
T |
C |
19: 11,432,101 (GRCm39) |
V74A |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,923,655 (GRCm39) |
F133L |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,030,330 (GRCm39) |
M150V |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,465,903 (GRCm39) |
V487A |
probably benign |
Het |
| Nos3 |
G |
A |
5: 24,582,853 (GRCm39) |
C660Y |
probably damaging |
Het |
| Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,634 (GRCm39) |
V179A |
probably damaging |
Het |
| Or1e1c |
C |
T |
11: 73,266,243 (GRCm39) |
R223* |
probably null |
Het |
| Or52n5 |
A |
G |
7: 104,587,949 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,808 (GRCm39) |
L154P |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,879,258 (GRCm39) |
K938E |
probably damaging |
Het |
| Pcgf3 |
T |
C |
5: 108,635,827 (GRCm39) |
F166L |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,015,981 (GRCm39) |
V128E |
possibly damaging |
Het |
| Polr3a |
A |
C |
14: 24,532,532 (GRCm39) |
D187E |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,573 (GRCm39) |
D135G |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,424,527 (GRCm39) |
T14A |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,399,141 (GRCm39) |
E254G |
probably damaging |
Het |
| Silc1 |
A |
T |
12: 27,210,227 (GRCm39) |
|
noncoding transcript |
Het |
| Skint11 |
T |
C |
4: 114,048,707 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,108,816 (GRCm39) |
T109A |
probably benign |
Het |
| Sntg1 |
C |
A |
1: 8,853,022 (GRCm39) |
V43L |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,090,203 (GRCm39) |
A124V |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,969,208 (GRCm39) |
D398G |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,227,629 (GRCm39) |
E1438V |
probably damaging |
Het |
| Tas2r139 |
A |
G |
6: 42,118,500 (GRCm39) |
T211A |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,029,770 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
C |
3: 89,133,738 (GRCm39) |
Y897H |
probably damaging |
Het |
| Timm50 |
G |
T |
7: 28,009,469 (GRCm39) |
|
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,844,298 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Unc93b1 |
C |
A |
19: 3,985,871 (GRCm39) |
T90K |
probably benign |
Het |
| Upk3bl |
T |
C |
5: 136,086,099 (GRCm39) |
|
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,919 (GRCm39) |
F610Y |
probably damaging |
Het |
| Vmn2r80 |
T |
G |
10: 79,030,532 (GRCm39) |
L786R |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,726,083 (GRCm39) |
T323A |
probably benign |
Het |
| Zfp532 |
T |
C |
18: 65,758,137 (GRCm39) |
I690T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,744,791 (GRCm39) |
N47S |
probably damaging |
Het |
|
| Other mutations in Vmn2r112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Vmn2r112
|
APN |
17 |
22,837,917 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01021:Vmn2r112
|
APN |
17 |
22,837,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Vmn2r112
|
APN |
17 |
22,821,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Vmn2r112
|
APN |
17 |
22,837,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01536:Vmn2r112
|
APN |
17 |
22,824,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Vmn2r112
|
APN |
17 |
22,838,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02465:Vmn2r112
|
APN |
17 |
22,833,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4576001:Vmn2r112
|
UTSW |
17 |
22,833,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0278:Vmn2r112
|
UTSW |
17 |
22,821,987 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0328:Vmn2r112
|
UTSW |
17 |
22,824,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0583:Vmn2r112
|
UTSW |
17 |
22,837,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Vmn2r112
|
UTSW |
17 |
22,833,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Vmn2r112
|
UTSW |
17 |
22,837,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1245:Vmn2r112
|
UTSW |
17 |
22,822,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1321:Vmn2r112
|
UTSW |
17 |
22,837,500 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Vmn2r112
|
UTSW |
17 |
22,837,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Vmn2r112
|
UTSW |
17 |
22,821,825 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1519:Vmn2r112
|
UTSW |
17 |
22,837,884 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1572:Vmn2r112
|
UTSW |
17 |
22,822,125 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1590:Vmn2r112
|
UTSW |
17 |
22,833,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1640:Vmn2r112
|
UTSW |
17 |
22,824,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2221:Vmn2r112
|
UTSW |
17 |
22,820,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2223:Vmn2r112
|
UTSW |
17 |
22,820,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2310:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2312:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2337:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2339:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2340:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2341:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2342:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2401:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2860:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2861:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2926:Vmn2r112
|
UTSW |
17 |
22,833,984 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3236:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3237:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3977:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3979:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4168:Vmn2r112
|
UTSW |
17 |
22,822,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4256:Vmn2r112
|
UTSW |
17 |
22,837,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Vmn2r112
|
UTSW |
17 |
22,820,303 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4912:Vmn2r112
|
UTSW |
17 |
22,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5446:Vmn2r112
|
UTSW |
17 |
22,837,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Vmn2r112
|
UTSW |
17 |
22,838,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6351:Vmn2r112
|
UTSW |
17 |
22,820,259 (GRCm39) |
missense |
probably benign |
|
|
R6384:Vmn2r112
|
UTSW |
17 |
22,824,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Vmn2r112
|
UTSW |
17 |
22,824,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6401:Vmn2r112
|
UTSW |
17 |
22,822,532 (GRCm39) |
nonsense |
probably null |
|
|
R6405:Vmn2r112
|
UTSW |
17 |
22,837,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Vmn2r112
|
UTSW |
17 |
22,822,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6648:Vmn2r112
|
UTSW |
17 |
22,837,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Vmn2r112
|
UTSW |
17 |
22,820,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R6653:Vmn2r112
|
UTSW |
17 |
22,820,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R6654:Vmn2r112
|
UTSW |
17 |
22,822,450 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6700:Vmn2r112
|
UTSW |
17 |
22,822,462 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6993:Vmn2r112
|
UTSW |
17 |
22,822,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7052:Vmn2r112
|
UTSW |
17 |
22,821,507 (GRCm39) |
missense |
probably benign |
|
|
R7454:Vmn2r112
|
UTSW |
17 |
22,822,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Vmn2r112
|
UTSW |
17 |
22,822,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Vmn2r112
|
UTSW |
17 |
22,822,375 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8177:Vmn2r112
|
UTSW |
17 |
22,822,594 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8263:Vmn2r112
|
UTSW |
17 |
22,824,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Vmn2r112
|
UTSW |
17 |
22,837,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8492:Vmn2r112
|
UTSW |
17 |
22,821,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8889:Vmn2r112
|
UTSW |
17 |
22,837,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Vmn2r112
|
UTSW |
17 |
22,837,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Vmn2r112
|
UTSW |
17 |
22,824,088 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9269:Vmn2r112
|
UTSW |
17 |
22,820,213 (GRCm39) |
missense |
probably benign |
|
|
R9273:Vmn2r112
|
UTSW |
17 |
22,837,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Vmn2r112
|
UTSW |
17 |
22,822,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Vmn2r112
|
UTSW |
17 |
22,822,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9406:Vmn2r112
|
UTSW |
17 |
22,824,223 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Vmn2r112
|
UTSW |
17 |
22,821,233 (GRCm39) |
missense |
|
|
|
R9728:Vmn2r112
|
UTSW |
17 |
22,824,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Vmn2r112
|
UTSW |
17 |
22,824,059 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCACACATTTGATGGGGCTTC -3'
(R):5'- ATCATGTTGACAAAGGCAAAGCAC -3'
Sequencing Primer
(F):5'- GGGGCTTCCAAATTTCCTAATATG -3'
(R):5'- GGCAAAGCACACTGTATATTTTTCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation