Incidental Mutation 'R3236:Vmn2r112'
| ID |
259062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r112
|
| Ensembl Gene |
ENSMUSG00000094921 |
| Gene Name |
vomeronasal 2, receptor 112 |
| Synonyms |
EG628185 |
| MMRRC Submission |
040618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3236 (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 22822096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 258
(V258E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
| AlphaFold |
L7N221 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097381
AA Change: V258E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: V258E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 5730455P16Rik |
G |
A |
11: 80,258,996 (GRCm39) |
L255F |
probably damaging |
Het |
| Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
| Armh3 |
A |
T |
19: 45,963,722 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
A |
9: 53,391,048 (GRCm39) |
D1842V |
probably benign |
Het |
| Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,397,995 (GRCm39) |
T243A |
possibly damaging |
Het |
| Col5a3 |
G |
T |
9: 20,718,949 (GRCm39) |
N268K |
unknown |
Het |
| Col6a1 |
G |
A |
10: 76,547,154 (GRCm39) |
T737M |
unknown |
Het |
| Cyp3a25 |
T |
C |
5: 145,939,938 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
| Ecm1 |
G |
T |
3: 95,642,158 (GRCm39) |
Q476K |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,781,097 (GRCm39) |
|
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,738 (GRCm39) |
Y398H |
probably damaging |
Het |
| H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,131,798 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,297,192 (GRCm39) |
Y387H |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
| Lrig3 |
G |
A |
10: 125,833,056 (GRCm39) |
C310Y |
probably damaging |
Het |
| Map6 |
T |
A |
7: 98,986,031 (GRCm39) |
V645E |
probably damaging |
Het |
| Memo1 |
A |
T |
17: 74,509,347 (GRCm39) |
I224K |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,633,612 (GRCm39) |
I602T |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
| Ndrg3 |
T |
A |
2: 156,785,957 (GRCm39) |
I161F |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,435 (GRCm39) |
R214G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,127 (GRCm39) |
E133G |
possibly damaging |
Het |
| Or4p7 |
T |
C |
2: 88,221,750 (GRCm39) |
I53T |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,328,597 (GRCm39) |
V243A |
probably damaging |
Het |
| Piwil4 |
A |
G |
9: 14,611,544 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pon2 |
A |
T |
6: 5,266,986 (GRCm39) |
N252K |
possibly damaging |
Het |
| Ptf1a |
T |
C |
2: 19,450,718 (GRCm39) |
F16S |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,122,293 (GRCm39) |
Y366H |
probably benign |
Het |
| Rbfox1 |
G |
A |
16: 7,225,892 (GRCm39) |
V353I |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scaf4 |
T |
A |
16: 90,057,105 (GRCm39) |
D82V |
unknown |
Het |
| Serhl |
C |
A |
15: 82,988,604 (GRCm39) |
P177Q |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,538,652 (GRCm39) |
S1123P |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,668,607 (GRCm39) |
I453V |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,063,802 (GRCm39) |
D660E |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
| Speer4e1 |
T |
A |
5: 14,984,939 (GRCm39) |
E206D |
possibly damaging |
Het |
| Stard6 |
T |
A |
18: 70,633,557 (GRCm39) |
M188K |
probably damaging |
Het |
| Stat6 |
G |
A |
10: 127,488,091 (GRCm39) |
V282I |
possibly damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
| Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
| Thsd4 |
C |
A |
9: 60,301,670 (GRCm39) |
K208N |
probably benign |
Het |
| Thsd7b |
C |
T |
1: 130,145,855 (GRCm39) |
Q1588* |
probably null |
Het |
| Tmem167 |
C |
T |
13: 90,252,499 (GRCm39) |
R52C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,729,753 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
G |
A |
6: 72,315,372 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
C |
T |
6: 123,755,984 (GRCm39) |
Q19* |
probably null |
Het |
| Vps13b |
G |
A |
15: 35,910,450 (GRCm39) |
E3405K |
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
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 |
|
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 |
|
R4947:Vmn2r112
|
UTSW |
17 |
22,821,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TGGCCTCTGATCATACATCTCTAG -3'
(R):5'- TGACTGAGTTCAATGTCTGCAC -3'
Sequencing Primer
(F):5'- GATCATACATCTCTAGCCCTTGC -3'
(R):5'- CCAGAAATCTCACTATTGTGTTGTTG -3'
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| Posted On |
2015-01-23 |
Incidental Mutation