Incidental Mutation 'R2424:Vmn2r114'
| ID |
249515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r114
|
| Ensembl Gene |
ENSMUSG00000091945 |
| Gene Name |
vomeronasal 2, receptor 114 |
| Synonyms |
EG666002 |
| MMRRC Submission |
040386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R2424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23509908-23531287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23515842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 550
(T550A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168033]
|
| AlphaFold |
E9Q281 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168033
AA Change: T550A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127505
Gene: ENSMUSG00000091945
AA Change: T550A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
154 |
470 |
1.5e-24 |
PFAM |
|
Pfam:NCD3G
|
511 |
564 |
1.5e-18 |
PFAM |
|
Pfam:7tm_3
|
597 |
832 |
1.4e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,590,159 (GRCm39) |
|
probably null |
Het |
| Acot3 |
G |
T |
12: 84,100,638 (GRCm39) |
R138L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,298,040 (GRCm39) |
V160A |
probably damaging |
Het |
| Akap9 |
A |
C |
5: 4,115,279 (GRCm39) |
E166D |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,357,582 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,494,297 (GRCm39) |
V244A |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,444,303 (GRCm39) |
H560L |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,980 (GRCm39) |
T482A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,770,980 (GRCm39) |
Y1828N |
probably damaging |
Het |
| Capzb |
A |
G |
4: 138,921,441 (GRCm39) |
M1V |
probably null |
Het |
| Cdh9 |
T |
G |
15: 16,850,440 (GRCm39) |
F524L |
probably damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,386,760 (GRCm39) |
S846P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,833,544 (GRCm39) |
R1886* |
probably null |
Het |
| Dpp3 |
A |
T |
19: 4,957,735 (GRCm39) |
L711* |
probably null |
Het |
| Dst |
T |
A |
1: 34,206,141 (GRCm39) |
I566N |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,928,045 (GRCm39) |
S421R |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,011,828 (GRCm39) |
V825A |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,341,072 (GRCm39) |
|
probably benign |
Het |
| Fam187a |
T |
C |
11: 102,776,780 (GRCm39) |
Y195H |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,336,859 (GRCm39) |
C132Y |
probably damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,986,587 (GRCm39) |
Y97* |
probably null |
Het |
| Grin1 |
A |
T |
2: 25,208,664 (GRCm39) |
C79S |
probably null |
Het |
| Haao |
T |
A |
17: 84,142,991 (GRCm39) |
Y118F |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,768,222 (GRCm39) |
S378T |
probably damaging |
Het |
| Kcnj5 |
A |
T |
9: 32,234,116 (GRCm39) |
N66K |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,855,399 (GRCm39) |
N668I |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,912 (GRCm39) |
L46Q |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,105,660 (GRCm39) |
T2056I |
probably benign |
Het |
| Madd |
G |
C |
2: 90,996,967 (GRCm39) |
D824E |
probably damaging |
Het |
| Mapk9 |
A |
G |
11: 49,754,499 (GRCm39) |
N84S |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,527,748 (GRCm39) |
V160A |
probably benign |
Het |
| Mrpl9 |
T |
C |
3: 94,351,113 (GRCm39) |
S98P |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,966,138 (GRCm39) |
M1233L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,099,671 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,290,721 (GRCm38) |
|
probably null |
Het |
| Nt5c1b |
A |
T |
12: 10,420,072 (GRCm39) |
T4S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,277 (GRCm39) |
|
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,408 (GRCm39) |
I155M |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,281 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8b1b |
T |
C |
9: 38,376,128 (GRCm39) |
S264P |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,593 (GRCm39) |
F168L |
probably benign |
Het |
| Otog |
A |
T |
7: 45,947,593 (GRCm39) |
K64* |
probably null |
Het |
| Papola |
A |
G |
12: 105,793,311 (GRCm39) |
T544A |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,297,002 (GRCm39) |
V790A |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,845,430 (GRCm39) |
R1252S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,730 (GRCm39) |
T691A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,111 (GRCm39) |
I159F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,560 (GRCm39) |
E62V |
probably benign |
Het |
| Rnase1 |
A |
G |
14: 51,383,004 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,096 (GRCm39) |
D189G |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,869,023 (GRCm39) |
N365S |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,446,590 (GRCm39) |
H2480R |
probably benign |
Het |
| Slc27a6 |
G |
T |
18: 58,738,189 (GRCm39) |
C415F |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,057,612 (GRCm39) |
I142V |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,014,590 (GRCm39) |
I1070V |
possibly damaging |
Het |
| Tbp |
T |
C |
17: 15,733,795 (GRCm39) |
F174L |
possibly damaging |
Het |
| Tex26 |
A |
G |
5: 149,393,913 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
A |
G |
5: 127,941,663 (GRCm39) |
V479A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,489 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,757,165 (GRCm39) |
N957K |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,256,310 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,161 (GRCm39) |
V296A |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,431 (GRCm39) |
Y699* |
probably null |
Het |
|
| Other mutations in Vmn2r114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Vmn2r114
|
APN |
17 |
23,510,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,510,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,509,957 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL00990:Vmn2r114
|
APN |
17 |
23,509,939 (GRCm39) |
missense |
probably benign |
|
|
IGL01838:Vmn2r114
|
APN |
17 |
23,515,956 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01990:Vmn2r114
|
APN |
17 |
23,529,355 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01994:Vmn2r114
|
APN |
17 |
23,529,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Vmn2r114
|
APN |
17 |
23,510,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02453:Vmn2r114
|
APN |
17 |
23,530,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02621:Vmn2r114
|
APN |
17 |
23,529,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02938:Vmn2r114
|
APN |
17 |
23,510,263 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03130:Vmn2r114
|
APN |
17 |
23,515,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL03325:Vmn2r114
|
APN |
17 |
23,510,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Vmn2r114
|
UTSW |
17 |
23,510,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Vmn2r114
|
UTSW |
17 |
23,529,549 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Vmn2r114
|
UTSW |
17 |
23,528,800 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0310:Vmn2r114
|
UTSW |
17 |
23,509,917 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0583:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R0677:Vmn2r114
|
UTSW |
17 |
23,529,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1147:Vmn2r114
|
UTSW |
17 |
23,530,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1147:Vmn2r114
|
UTSW |
17 |
23,530,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1157:Vmn2r114
|
UTSW |
17 |
23,529,314 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1323:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1347:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1435:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R1437:Vmn2r114
|
UTSW |
17 |
23,510,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Vmn2r114
|
UTSW |
17 |
23,510,675 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1641:Vmn2r114
|
UTSW |
17 |
23,515,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1748:Vmn2r114
|
UTSW |
17 |
23,527,035 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1954:Vmn2r114
|
UTSW |
17 |
23,530,086 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2081:Vmn2r114
|
UTSW |
17 |
23,510,083 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2103:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R2113:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R2134:Vmn2r114
|
UTSW |
17 |
23,510,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R2847:Vmn2r114
|
UTSW |
17 |
23,509,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2848:Vmn2r114
|
UTSW |
17 |
23,509,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2893:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3017:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3018:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3019:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3020:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R3021:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R4628:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R4668:Vmn2r114
|
UTSW |
17 |
23,529,447 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4840:Vmn2r114
|
UTSW |
17 |
23,510,353 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4841:Vmn2r114
|
UTSW |
17 |
23,529,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4842:Vmn2r114
|
UTSW |
17 |
23,529,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4856:Vmn2r114
|
UTSW |
17 |
23,527,008 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4886:Vmn2r114
|
UTSW |
17 |
23,527,008 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4992:Vmn2r114
|
UTSW |
17 |
23,510,765 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5182:Vmn2r114
|
UTSW |
17 |
23,510,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5223:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5405:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5449:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5615:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
R5834:Vmn2r114
|
UTSW |
17 |
23,529,599 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6150:Vmn2r114
|
UTSW |
17 |
23,510,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6277:Vmn2r114
|
UTSW |
17 |
23,509,954 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6403:Vmn2r114
|
UTSW |
17 |
23,528,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6589:Vmn2r114
|
UTSW |
17 |
23,510,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Vmn2r114
|
UTSW |
17 |
23,529,220 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6747:Vmn2r114
|
UTSW |
17 |
23,528,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6837:Vmn2r114
|
UTSW |
17 |
23,529,176 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6911:Vmn2r114
|
UTSW |
17 |
23,510,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6950:Vmn2r114
|
UTSW |
17 |
23,529,137 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7276:Vmn2r114
|
UTSW |
17 |
23,509,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7482:Vmn2r114
|
UTSW |
17 |
23,510,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Vmn2r114
|
UTSW |
17 |
23,527,035 (GRCm39) |
missense |
probably null |
0.96 |
|
R7523:Vmn2r114
|
UTSW |
17 |
23,529,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7563:Vmn2r114
|
UTSW |
17 |
23,510,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Vmn2r114
|
UTSW |
17 |
23,510,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Vmn2r114
|
UTSW |
17 |
23,510,817 (GRCm39) |
nonsense |
probably null |
|
|
R7611:Vmn2r114
|
UTSW |
17 |
23,515,944 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7641:Vmn2r114
|
UTSW |
17 |
23,527,177 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7651:Vmn2r114
|
UTSW |
17 |
23,509,986 (GRCm39) |
nonsense |
probably null |
|
|
R7970:Vmn2r114
|
UTSW |
17 |
23,530,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8737:Vmn2r114
|
UTSW |
17 |
23,529,142 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8802:Vmn2r114
|
UTSW |
17 |
23,528,836 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8847:Vmn2r114
|
UTSW |
17 |
23,528,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8991:Vmn2r114
|
UTSW |
17 |
23,529,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Vmn2r114
|
UTSW |
17 |
23,510,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9173:Vmn2r114
|
UTSW |
17 |
23,510,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9175:Vmn2r114
|
UTSW |
17 |
23,527,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Vmn2r114
|
UTSW |
17 |
23,510,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9670:Vmn2r114
|
UTSW |
17 |
23,531,098 (GRCm39) |
missense |
|
|
|
X0065:Vmn2r114
|
UTSW |
17 |
23,529,931 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1088:Vmn2r114
|
UTSW |
17 |
23,509,906 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATTTGAGAGTGTGCCACTTAC -3'
(R):5'- TCTGTCCTCATAAAATGCACTAGG -3'
Sequencing Primer
(F):5'- GTGCCACTTACTATGAATTTTCAAGG -3'
(R):5'- ATCTGGTAACTCTGTTGGTTTATATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation