Incidental Mutation 'R5109:Vmn2r17'
| ID |
393733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r17
|
| Ensembl Gene |
ENSMUSG00000091879 |
| Gene Name |
vomeronasal 2, receptor 17 |
| Synonyms |
EG384221 |
| MMRRC Submission |
042697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5109 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109567879-109601253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109577342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 464
(F464L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171841]
|
| AlphaFold |
E9PYF5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171841
AA Change: F464L
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131450
Gene: ENSMUSG00000091879
AA Change: F464L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
95% (78/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
T |
C |
5: 90,391,395 (GRCm39) |
S1841G |
possibly damaging |
Het |
| Anxa10 |
T |
C |
8: 62,516,093 (GRCm39) |
E193G |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,545,284 (GRCm39) |
S1056G |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,214,242 (GRCm39) |
N62D |
probably damaging |
Het |
| Apobec2 |
A |
T |
17: 48,730,022 (GRCm39) |
Y215N |
probably damaging |
Het |
| Apobec2 |
T |
A |
17: 48,730,024 (GRCm39) |
Y214F |
probably damaging |
Het |
| Appl2 |
A |
T |
10: 83,436,871 (GRCm39) |
V630E |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,877 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,580,797 (GRCm39) |
M683K |
possibly damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,373,293 (GRCm39) |
D187E |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,773,753 (GRCm39) |
F96L |
probably benign |
Het |
| Cimap1a |
A |
T |
7: 140,429,461 (GRCm39) |
S197C |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,906,295 (GRCm39) |
|
probably benign |
Het |
| Crocc |
C |
T |
4: 140,755,722 (GRCm39) |
R1102Q |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,329 (GRCm39) |
D273G |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,414,221 (GRCm39) |
T865A |
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,491,788 (GRCm39) |
I8F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,279,887 (GRCm39) |
F97L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Doc2b |
T |
C |
11: 75,667,967 (GRCm39) |
D261G |
probably benign |
Het |
| Ear1 |
A |
G |
14: 44,056,485 (GRCm39) |
Y128H |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,883,142 (GRCm39) |
I171N |
probably damaging |
Het |
| Entpd3 |
C |
A |
9: 120,395,380 (GRCm39) |
N454K |
possibly damaging |
Het |
| Flrt3 |
A |
G |
2: 140,502,663 (GRCm39) |
S322P |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,688,394 (GRCm39) |
C170Y |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,382,920 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
T |
G |
14: 51,602,774 (GRCm39) |
S37A |
probably damaging |
Het |
| Gm8775 |
T |
A |
3: 4,277,008 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gria4 |
A |
C |
9: 4,472,168 (GRCm39) |
N440K |
probably damaging |
Het |
| H2-T22 |
T |
A |
17: 36,350,113 (GRCm39) |
R334* |
probably null |
Het |
| Ift172 |
T |
C |
5: 31,423,330 (GRCm39) |
D817G |
probably benign |
Het |
| Igkv9-124 |
T |
A |
6: 67,919,348 (GRCm39) |
R21S |
possibly damaging |
Het |
| Itgam |
G |
A |
7: 127,712,390 (GRCm39) |
V846I |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,373,063 (GRCm39) |
M94K |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,154,085 (GRCm39) |
V2A |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,101,933 (GRCm39) |
D400G |
probably damaging |
Het |
| Man2a1 |
T |
A |
17: 65,059,443 (GRCm39) |
V1110E |
probably benign |
Het |
| Mfsd9 |
T |
A |
1: 40,813,365 (GRCm39) |
I317F |
probably damaging |
Het |
| Mindy4 |
A |
T |
6: 55,193,730 (GRCm39) |
|
probably null |
Het |
| Mrpl53 |
A |
G |
6: 83,086,541 (GRCm39) |
T82A |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,925,637 (GRCm39) |
K35E |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,515,650 (GRCm39) |
V1717A |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,257,070 (GRCm39) |
V143A |
probably damaging |
Het |
| Ndufa9 |
A |
C |
6: 126,809,520 (GRCm39) |
|
probably null |
Het |
| Or10ag60 |
G |
A |
2: 87,438,319 (GRCm39) |
G196R |
possibly damaging |
Het |
| Or10ag60 |
G |
A |
2: 87,437,755 (GRCm39) |
A8T |
possibly damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,878 (GRCm39) |
M1V |
probably null |
Het |
| Or5k17 |
A |
G |
16: 58,746,422 (GRCm39) |
S171P |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,104 (GRCm39) |
S167P |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,272,438 (GRCm39) |
I71N |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,668 (GRCm39) |
V247M |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,458,741 (GRCm39) |
A466S |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,491,162 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
A |
G |
17: 88,866,268 (GRCm39) |
K355E |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
| Rbms1 |
G |
A |
2: 60,612,284 (GRCm39) |
L161F |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,702,672 (GRCm39) |
D83G |
probably damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,361 (GRCm39) |
R910* |
probably null |
Het |
| Sema4c |
CTGGGCTT |
C |
1: 36,591,381 (GRCm39) |
|
probably null |
Het |
| Spata31e5 |
T |
C |
1: 28,816,636 (GRCm39) |
I465M |
possibly damaging |
Het |
| Stambp |
A |
G |
6: 83,540,803 (GRCm39) |
|
probably null |
Het |
| Tcf21 |
T |
C |
10: 22,695,558 (GRCm39) |
N82S |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,030 (GRCm39) |
V351D |
probably damaging |
Het |
| Tmem39a |
G |
A |
16: 38,411,326 (GRCm39) |
G359D |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,204 (GRCm39) |
T843S |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,088 (GRCm39) |
D823G |
probably null |
Het |
| Wrnip1 |
T |
A |
13: 33,000,319 (GRCm39) |
L442Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,062 (GRCm39) |
S674Y |
probably damaging |
Het |
| Zfp639 |
T |
G |
3: 32,574,585 (GRCm39) |
|
probably null |
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 |
|
R2054:Vmn2r17
|
UTSW |
5 |
109,600,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TTCCTGGAAACCATTGAAGAATTAGGG -3'
(R):5'- GGTCTTAATCACACAGCTACATC -3'
Sequencing Primer
(F):5'- GGGGAATTTTTCAATTTTGCATTCCC -3'
(R):5'- AATCACACAGCTACATCTTTTGTGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation