Incidental Mutation 'R2054:Vmn2r17'
| ID |
226515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r17
|
| Ensembl Gene |
ENSMUSG00000091879 |
| Gene Name |
vomeronasal 2, receptor 17 |
| Synonyms |
EG384221 |
| MMRRC Submission |
040059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R2054 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109567879-109601253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109600352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 550
(M550T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171841]
|
| AlphaFold |
E9PYF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171841
AA Change: M550T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131450
Gene: ENSMUSG00000091879
AA Change: M550T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
465 |
7e-26 |
PFAM |
|
Pfam:NCD3G
|
508 |
562 |
3.5e-18 |
PFAM |
|
Pfam:7tm_3
|
593 |
830 |
4.8e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,562 (GRCm39) |
C94S |
possibly damaging |
Het |
| A930011G23Rik |
T |
C |
5: 99,375,914 (GRCm39) |
Y432C |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,535,462 (GRCm39) |
D543G |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,481,310 (GRCm39) |
V318E |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,291,548 (GRCm39) |
F318L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,063,134 (GRCm39) |
D3872V |
probably damaging |
Het |
| Atat1 |
T |
A |
17: 36,212,261 (GRCm39) |
R323W |
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,642,907 (GRCm39) |
D1066G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,002,002 (GRCm39) |
T1316A |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,697,127 (GRCm39) |
|
probably benign |
Het |
| Cblif |
G |
A |
19: 11,736,370 (GRCm39) |
V314I |
probably benign |
Het |
| Ccdc54 |
T |
A |
16: 50,410,987 (GRCm39) |
N93I |
probably damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,491,128 (GRCm39) |
D159E |
possibly damaging |
Het |
| Cnot1 |
A |
C |
8: 96,466,469 (GRCm39) |
S1589R |
possibly damaging |
Het |
| Copa |
T |
A |
1: 171,946,524 (GRCm39) |
Y980* |
probably null |
Het |
| Defb19 |
A |
G |
2: 152,418,090 (GRCm39) |
I82T |
possibly damaging |
Het |
| Elapor2 |
C |
A |
5: 9,513,030 (GRCm39) |
T1008K |
possibly damaging |
Het |
| Fiz1 |
G |
A |
7: 5,011,235 (GRCm39) |
R428C |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,479,772 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
G |
A |
7: 57,474,241 (GRCm39) |
G408S |
probably benign |
Het |
| Hao1 |
C |
T |
2: 134,340,178 (GRCm39) |
|
silent |
Het |
| Hecw1 |
T |
A |
13: 14,471,998 (GRCm39) |
M557L |
probably damaging |
Het |
| Itch |
A |
T |
2: 155,052,496 (GRCm39) |
I699F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,734,671 (GRCm39) |
|
probably benign |
Het |
| Leng8 |
T |
G |
7: 4,147,289 (GRCm39) |
Y562* |
probably null |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,587,494 (GRCm39) |
N151K |
unknown |
Het |
| Lrrc71 |
T |
C |
3: 87,649,980 (GRCm39) |
E316G |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,344 (GRCm39) |
N404D |
probably damaging |
Het |
| Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,547,309 (GRCm39) |
T431A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,550,482 (GRCm39) |
C713S |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,054,451 (GRCm39) |
K1077E |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,524,207 (GRCm39) |
T1688A |
probably benign |
Het |
| Nek2 |
T |
C |
1: 191,553,764 (GRCm39) |
S3P |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,332,990 (GRCm39) |
T190A |
probably benign |
Het |
| Npr2 |
A |
T |
4: 43,646,560 (GRCm39) |
N636I |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,584,846 (GRCm39) |
I453K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,980,448 (GRCm39) |
H865R |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,653,341 (GRCm39) |
V80A |
possibly damaging |
Het |
| Phka2 |
T |
A |
X: 159,337,323 (GRCm39) |
D424E |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,793,770 (GRCm39) |
T1819I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,355,169 (GRCm39) |
D219G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,631,130 (GRCm39) |
I500V |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Pygm |
C |
G |
19: 6,438,185 (GRCm39) |
N163K |
probably benign |
Het |
| Qrich1 |
T |
A |
9: 108,436,469 (GRCm39) |
N722K |
possibly damaging |
Het |
| Reep6 |
T |
A |
10: 80,166,156 (GRCm39) |
C104* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,724,719 (GRCm39) |
V214A |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,820,570 (GRCm39) |
T1398I |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,676,360 (GRCm39) |
|
probably null |
Het |
| Slc7a14 |
A |
G |
3: 31,291,511 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,948 (GRCm39) |
M646K |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,449,356 (GRCm39) |
N165S |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,115,187 (GRCm39) |
|
probably benign |
Het |
| Tead4 |
G |
T |
6: 128,247,925 (GRCm39) |
S37R |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex56 |
T |
A |
13: 35,108,574 (GRCm39) |
Y19N |
probably damaging |
Het |
| Tff2 |
T |
C |
17: 31,362,199 (GRCm39) |
K40E |
probably benign |
Het |
| Traip |
C |
T |
9: 107,840,118 (GRCm39) |
T265M |
probably benign |
Het |
| Trim47 |
T |
C |
11: 115,999,109 (GRCm39) |
T256A |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,890,303 (GRCm39) |
M853V |
possibly damaging |
Het |
| Tti1 |
G |
T |
2: 157,849,365 (GRCm39) |
Q625K |
possibly damaging |
Het |
| Ube2n |
A |
G |
10: 95,377,128 (GRCm39) |
N31S |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,622,793 (GRCm39) |
N31K |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,767,728 (GRCm39) |
V628A |
probably damaging |
Het |
|
| Other mutations in Vmn2r17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Vmn2r17
|
APN |
5 |
109,575,858 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01457:Vmn2r17
|
APN |
5 |
109,600,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01527:Vmn2r17
|
APN |
5 |
109,601,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01693:Vmn2r17
|
APN |
5 |
109,600,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01738:Vmn2r17
|
APN |
5 |
109,577,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Vmn2r17
|
APN |
5 |
109,567,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01932:Vmn2r17
|
APN |
5 |
109,574,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01970:Vmn2r17
|
APN |
5 |
109,575,813 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02009:Vmn2r17
|
APN |
5 |
109,600,714 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02365:Vmn2r17
|
APN |
5 |
109,601,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Vmn2r17
|
APN |
5 |
109,582,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Vmn2r17
|
APN |
5 |
109,601,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02646:Vmn2r17
|
APN |
5 |
109,600,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Vmn2r17
|
APN |
5 |
109,568,077 (GRCm39) |
missense |
probably benign |
|
|
IGL03213:Vmn2r17
|
APN |
5 |
109,582,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03216:Vmn2r17
|
APN |
5 |
109,600,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Vmn2r17
|
APN |
5 |
109,575,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03408:Vmn2r17
|
APN |
5 |
109,577,238 (GRCm39) |
splice site |
probably benign |
|
|
R0349:Vmn2r17
|
UTSW |
5 |
109,576,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Vmn2r17
|
UTSW |
5 |
109,600,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Vmn2r17
|
UTSW |
5 |
109,575,192 (GRCm39) |
splice site |
probably benign |
|
|
R0836:Vmn2r17
|
UTSW |
5 |
109,575,822 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1715:Vmn2r17
|
UTSW |
5 |
109,576,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1738:Vmn2r17
|
UTSW |
5 |
109,576,377 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1801:Vmn2r17
|
UTSW |
5 |
109,576,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Vmn2r17
|
UTSW |
5 |
109,575,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2192:Vmn2r17
|
UTSW |
5 |
109,582,144 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2315:Vmn2r17
|
UTSW |
5 |
109,575,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2374:Vmn2r17
|
UTSW |
5 |
109,575,104 (GRCm39) |
missense |
probably benign |
|
|
R3612:Vmn2r17
|
UTSW |
5 |
109,577,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3832:Vmn2r17
|
UTSW |
5 |
109,576,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Vmn2r17
|
UTSW |
5 |
109,600,832 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4494:Vmn2r17
|
UTSW |
5 |
109,576,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Vmn2r17
|
UTSW |
5 |
109,577,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4675:Vmn2r17
|
UTSW |
5 |
109,575,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Vmn2r17
|
UTSW |
5 |
109,575,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:Vmn2r17
|
UTSW |
5 |
109,600,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4841:Vmn2r17
|
UTSW |
5 |
109,582,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Vmn2r17
|
UTSW |
5 |
109,582,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r17
|
UTSW |
5 |
109,574,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Vmn2r17
|
UTSW |
5 |
109,601,220 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4989:Vmn2r17
|
UTSW |
5 |
109,575,739 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5101:Vmn2r17
|
UTSW |
5 |
109,576,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5109:Vmn2r17
|
UTSW |
5 |
109,577,342 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5123:Vmn2r17
|
UTSW |
5 |
109,575,774 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5474:Vmn2r17
|
UTSW |
5 |
109,582,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Vmn2r17
|
UTSW |
5 |
109,567,972 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5611:Vmn2r17
|
UTSW |
5 |
109,576,030 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5652:Vmn2r17
|
UTSW |
5 |
109,577,430 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5717:Vmn2r17
|
UTSW |
5 |
109,575,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5735:Vmn2r17
|
UTSW |
5 |
109,600,716 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5766:Vmn2r17
|
UTSW |
5 |
109,575,139 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6645:Vmn2r17
|
UTSW |
5 |
109,576,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Vmn2r17
|
UTSW |
5 |
109,575,695 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6821:Vmn2r17
|
UTSW |
5 |
109,577,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Vmn2r17
|
UTSW |
5 |
109,576,265 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6984:Vmn2r17
|
UTSW |
5 |
109,600,533 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7269:Vmn2r17
|
UTSW |
5 |
109,576,337 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7509:Vmn2r17
|
UTSW |
5 |
109,575,695 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7736:Vmn2r17
|
UTSW |
5 |
109,600,757 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7789:Vmn2r17
|
UTSW |
5 |
109,600,831 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7814:Vmn2r17
|
UTSW |
5 |
109,575,739 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7847:Vmn2r17
|
UTSW |
5 |
109,568,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Vmn2r17
|
UTSW |
5 |
109,568,035 (GRCm39) |
missense |
probably benign |
|
|
R7893:Vmn2r17
|
UTSW |
5 |
109,575,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8234:Vmn2r17
|
UTSW |
5 |
109,601,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8382:Vmn2r17
|
UTSW |
5 |
109,576,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8435:Vmn2r17
|
UTSW |
5 |
109,576,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8465:Vmn2r17
|
UTSW |
5 |
109,600,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8555:Vmn2r17
|
UTSW |
5 |
109,600,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8900:Vmn2r17
|
UTSW |
5 |
109,575,863 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9293:Vmn2r17
|
UTSW |
5 |
109,600,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Vmn2r17
|
UTSW |
5 |
109,600,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9378:Vmn2r17
|
UTSW |
5 |
109,575,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9597:Vmn2r17
|
UTSW |
5 |
109,575,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTCCATTCCCTAAGATGGTATG -3'
(R):5'- ATGGGAGTATCCTTGTACTTCAC -3'
Sequencing Primer
(F):5'- TCACCAAGCATAGGATAATACAGAG -3'
(R):5'- GGGAGTATCCTTGTACTTCACAAAAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation