Incidental Mutation 'R2223:Vmn2r112'
ID |
241641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r112
|
Ensembl Gene |
ENSMUSG00000094921 |
Gene Name |
vomeronasal 2, receptor 112 |
Synonyms |
EG628185 |
MMRRC Submission |
040224-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R2223 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
22820129-22838114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 22820214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 29
(M29R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
AlphaFold |
L7N221 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097381
AA Change: M29R
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000094994 Gene: ENSMUSG00000094921 AA Change: M29R
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
G |
3: 40,889,296 (GRCm39) |
|
probably benign |
Het |
Acvr1b |
C |
T |
15: 101,100,924 (GRCm39) |
A362V |
probably benign |
Het |
Adamts5 |
A |
C |
16: 85,696,194 (GRCm39) |
L321R |
probably damaging |
Het |
Adamtsl1 |
A |
C |
4: 86,306,762 (GRCm39) |
D1392A |
probably benign |
Het |
Afdn |
T |
C |
17: 14,103,999 (GRCm39) |
|
probably benign |
Het |
Aph1b |
A |
T |
9: 66,691,921 (GRCm39) |
M121K |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,080,868 (GRCm39) |
A120T |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,697,428 (GRCm39) |
N472I |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,849,186 (GRCm39) |
|
probably null |
Het |
Cfd |
A |
T |
10: 79,728,039 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,141,412 (GRCm39) |
E242G |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cradd |
A |
C |
10: 95,011,735 (GRCm39) |
V135G |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,979,617 (GRCm39) |
C460R |
probably damaging |
Het |
Cryz |
A |
T |
3: 154,324,191 (GRCm39) |
N192I |
possibly damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,274,332 (GRCm39) |
M350L |
probably benign |
Het |
Emsy |
T |
C |
7: 98,239,982 (GRCm39) |
E1091G |
possibly damaging |
Het |
Exoc3l4 |
C |
G |
12: 111,392,586 (GRCm39) |
A471G |
possibly damaging |
Het |
Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
Fmo2 |
C |
T |
1: 162,725,813 (GRCm39) |
C21Y |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,243 (GRCm39) |
|
probably null |
Het |
Gm5174 |
T |
A |
10: 86,492,372 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
A |
G |
17: 46,478,153 (GRCm39) |
I434V |
probably benign |
Het |
Kctd10 |
G |
T |
5: 114,505,410 (GRCm39) |
R195S |
probably benign |
Het |
Lrrc38 |
T |
A |
4: 143,096,419 (GRCm39) |
C243* |
probably null |
Het |
Luc7l2 |
T |
C |
6: 38,542,659 (GRCm39) |
|
probably benign |
Het |
Magi2 |
T |
A |
5: 20,670,670 (GRCm39) |
V111D |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,943,666 (GRCm39) |
V590A |
possibly damaging |
Het |
Megf11 |
G |
A |
9: 64,567,713 (GRCm39) |
G401S |
possibly damaging |
Het |
Mgat4d |
G |
A |
8: 84,082,301 (GRCm39) |
|
probably benign |
Het |
Mroh1 |
T |
C |
15: 76,292,245 (GRCm39) |
|
probably null |
Het |
Mx1 |
T |
C |
16: 97,256,432 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
A |
G |
11: 71,046,815 (GRCm39) |
|
probably benign |
Het |
Ntrk3 |
T |
C |
7: 77,848,600 (GRCm39) |
I759V |
probably damaging |
Het |
Or6c210 |
T |
A |
10: 129,495,678 (GRCm39) |
M1K |
probably null |
Het |
Pde8b |
T |
C |
13: 95,179,955 (GRCm39) |
N318S |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,839,063 (GRCm39) |
T874A |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,900,422 (GRCm39) |
T40A |
probably benign |
Het |
Prdm2 |
T |
C |
4: 142,861,469 (GRCm39) |
N607S |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,234,581 (GRCm39) |
|
probably benign |
Het |
Setx |
T |
G |
2: 29,038,549 (GRCm39) |
I1678S |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Snap91 |
T |
C |
9: 86,674,580 (GRCm39) |
T544A |
possibly damaging |
Het |
Sp8 |
G |
A |
12: 118,813,473 (GRCm39) |
G443S |
probably damaging |
Het |
Stk39 |
C |
T |
2: 68,144,923 (GRCm39) |
G384S |
probably damaging |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Trip10 |
A |
G |
17: 57,570,039 (GRCm39) |
D568G |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,973,480 (GRCm39) |
F279L |
probably null |
Het |
Ttc39b |
T |
C |
4: 83,150,999 (GRCm39) |
N532S |
probably benign |
Het |
Ube2w |
A |
G |
1: 16,668,183 (GRCm39) |
S97P |
possibly damaging |
Het |
Uvssa |
C |
T |
5: 33,549,407 (GRCm39) |
T356I |
probably damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,223 (GRCm39) |
L22R |
probably damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,273,301 (GRCm39) |
M705K |
probably benign |
Het |
Zfp516 |
C |
A |
18: 82,973,895 (GRCm39) |
A31D |
possibly 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 |
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 |
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'- ACATGGGGCTATATTGGTACCTG -3'
(R):5'- TGTTTTGCAGGCTGAAAACACC -3'
Sequencing Primer
(F):5'- GGTACCTGTTTGATTTCCTGATC -3'
(R):5'- CGTGCAAAAGCCTCATAGC -3'
|
Posted On |
2014-10-15 |