Incidental Mutation 'R7220:Vmn2r117'
ID |
561771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r117
|
Ensembl Gene |
ENSMUSG00000091407 |
Gene Name |
vomeronasal 2, receptor 117 |
Synonyms |
EG619788, V2Rp6 |
MMRRC Submission |
045292-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7220 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23696177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 410
(H410L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
AlphaFold |
K7N6V1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171996
AA Change: H410L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126885 Gene: ENSMUSG00000091407 AA Change: H410L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
471 |
2.6e-28 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
5e-20 |
PFAM |
Pfam:7tm_3
|
595 |
833 |
8.2e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,837,337 (GRCm39) |
H325Q |
probably damaging |
Het |
Aasdh |
T |
C |
5: 77,049,772 (GRCm39) |
I75V |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,826,667 (GRCm39) |
D438N |
possibly damaging |
Het |
Abca8a |
T |
A |
11: 109,980,793 (GRCm39) |
I82F |
probably benign |
Het |
Abca8b |
G |
T |
11: 109,872,543 (GRCm39) |
N19K |
probably damaging |
Het |
Acan |
A |
G |
7: 78,757,896 (GRCm39) |
N506S |
|
Het |
Alox12e |
C |
A |
11: 70,206,731 (GRCm39) |
R652L |
probably benign |
Het |
Atad3a |
A |
G |
4: 155,838,498 (GRCm39) |
V173A |
probably benign |
Het |
Atl3 |
A |
G |
19: 7,506,433 (GRCm39) |
K326R |
probably null |
Het |
Atm |
G |
T |
9: 53,423,217 (GRCm39) |
C636* |
probably null |
Het |
Atp2c2 |
G |
A |
8: 120,472,300 (GRCm39) |
M451I |
probably benign |
Het |
Best1 |
A |
T |
19: 9,969,479 (GRCm39) |
M193K |
probably benign |
Het |
Bmper |
G |
T |
9: 23,310,651 (GRCm39) |
G362C |
probably damaging |
Het |
Brd4 |
T |
A |
17: 32,444,557 (GRCm39) |
Y139F |
unknown |
Het |
Bzw2 |
A |
T |
12: 36,173,950 (GRCm39) |
I108N |
possibly damaging |
Het |
Cbs |
C |
A |
17: 31,838,191 (GRCm39) |
V353L |
probably benign |
Het |
Ceacam20 |
A |
G |
7: 19,701,678 (GRCm39) |
T22A |
probably damaging |
Het |
Ckap2l |
C |
T |
2: 129,117,436 (GRCm39) |
E580K |
probably damaging |
Het |
Ckmt1 |
T |
C |
2: 121,189,374 (GRCm39) |
L15P |
possibly damaging |
Het |
Clec18a |
G |
T |
8: 111,808,204 (GRCm39) |
P66H |
probably benign |
Het |
Cma1 |
G |
T |
14: 56,180,120 (GRCm39) |
T95K |
probably benign |
Het |
Csmd3 |
A |
G |
15: 48,320,994 (GRCm39) |
V272A |
probably damaging |
Het |
Ctnna3 |
A |
T |
10: 64,670,368 (GRCm39) |
E632D |
probably benign |
Het |
Ctsc |
T |
C |
7: 87,946,361 (GRCm39) |
L130P |
probably damaging |
Het |
Frmpd2 |
A |
T |
14: 33,229,432 (GRCm39) |
R339S |
probably damaging |
Het |
Frrs1 |
C |
A |
3: 116,674,425 (GRCm39) |
S69* |
probably null |
Het |
Gcc2 |
A |
T |
10: 58,116,416 (GRCm39) |
E1108D |
probably benign |
Het |
Gkn1 |
A |
T |
6: 87,326,135 (GRCm39) |
|
probably null |
Het |
Gtf2a1 |
A |
T |
12: 91,534,498 (GRCm39) |
M252K |
probably benign |
Het |
H2-Ob |
T |
C |
17: 34,460,234 (GRCm39) |
F115S |
probably damaging |
Het |
Ighv1-53 |
T |
C |
12: 115,122,135 (GRCm39) |
N80S |
probably benign |
Het |
Ighv1-67 |
T |
C |
12: 115,567,666 (GRCm39) |
K82R |
probably benign |
Het |
Ints1 |
A |
T |
5: 139,747,828 (GRCm39) |
I1193N |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,549,923 (GRCm39) |
F1353L |
probably damaging |
Het |
Luc7l |
C |
T |
17: 26,472,219 (GRCm39) |
|
probably benign |
Het |
Man1a |
A |
C |
10: 53,796,331 (GRCm39) |
S454A |
possibly damaging |
Het |
Mars2 |
C |
A |
1: 55,277,222 (GRCm39) |
A275D |
probably damaging |
Het |
Nrde2 |
A |
G |
12: 100,097,178 (GRCm39) |
V874A |
probably benign |
Het |
Ociad1 |
A |
G |
5: 73,470,809 (GRCm39) |
T244A |
probably benign |
Het |
Or10j2 |
A |
G |
1: 173,097,811 (GRCm39) |
Y23C |
possibly damaging |
Het |
Or3a10 |
A |
T |
11: 73,935,589 (GRCm39) |
D170E |
possibly damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,046 (GRCm39) |
L51F |
probably damaging |
Het |
Ovca2 |
A |
G |
11: 75,069,501 (GRCm39) |
C41R |
possibly damaging |
Het |
Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,178,441 (GRCm39) |
S566N |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,135,297 (GRCm39) |
I1038M |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,350 (GRCm39) |
T1588S |
possibly damaging |
Het |
Ppig |
A |
G |
2: 69,580,320 (GRCm39) |
D618G |
unknown |
Het |
Pramel17 |
A |
G |
4: 101,694,565 (GRCm39) |
F106S |
probably benign |
Het |
Prorp |
G |
A |
12: 55,351,200 (GRCm39) |
V170M |
possibly damaging |
Het |
Prss51 |
A |
T |
14: 64,333,444 (GRCm39) |
K18* |
probably null |
Het |
Ptpra |
T |
A |
2: 130,386,417 (GRCm39) |
D622E |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,725,988 (GRCm39) |
F1431L |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,044,479 (GRCm39) |
I486V |
probably benign |
Het |
Rnpc3 |
G |
A |
3: 113,422,004 (GRCm39) |
A77V |
probably benign |
Het |
Rtl10 |
T |
A |
16: 18,320,026 (GRCm39) |
C85* |
probably null |
Het |
Skint10 |
A |
G |
4: 112,586,170 (GRCm39) |
S149P |
probably benign |
Het |
Slc17a8 |
A |
C |
10: 89,412,275 (GRCm39) |
V570G |
probably benign |
Het |
Slc25a42 |
A |
T |
8: 70,642,148 (GRCm39) |
V98E |
probably damaging |
Het |
Smco2 |
A |
G |
6: 146,760,363 (GRCm39) |
E73G |
probably benign |
Het |
Ss18 |
T |
C |
18: 14,812,477 (GRCm39) |
Y38C |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,453,540 (GRCm39) |
C2909* |
probably null |
Het |
Tbccd1 |
A |
G |
16: 22,652,747 (GRCm39) |
Y125H |
probably benign |
Het |
Tdrd9 |
A |
G |
12: 111,980,888 (GRCm39) |
T446A |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,255,183 (GRCm39) |
Q1672K |
probably benign |
Het |
Tek |
G |
C |
4: 94,692,541 (GRCm39) |
W216C |
probably damaging |
Het |
Timm17a |
C |
T |
1: 135,241,313 (GRCm39) |
|
probably null |
Het |
Tlr4 |
A |
T |
4: 66,758,188 (GRCm39) |
H327L |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,234,109 (GRCm39) |
I449T |
possibly damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,559 (GRCm39) |
N28S |
probably null |
Het |
Vmn2r16 |
A |
G |
5: 109,508,772 (GRCm39) |
E500G |
probably damaging |
Het |
Wif1 |
A |
G |
10: 120,926,019 (GRCm39) |
N245S |
possibly damaging |
Het |
|
Other mutations in Vmn2r117 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Vmn2r117
|
APN |
17 |
23,698,520 (GRCm39) |
missense |
probably benign |
|
IGL00990:Vmn2r117
|
APN |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Vmn2r117
|
APN |
17 |
23,694,403 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01078:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01374:Vmn2r117
|
APN |
17 |
23,697,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01779:Vmn2r117
|
APN |
17 |
23,696,215 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02283:Vmn2r117
|
APN |
17 |
23,694,356 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02527:Vmn2r117
|
APN |
17 |
23,696,199 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02612:Vmn2r117
|
APN |
17 |
23,678,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02887:Vmn2r117
|
APN |
17 |
23,694,552 (GRCm39) |
splice site |
probably benign |
|
IGL03167:Vmn2r117
|
APN |
17 |
23,696,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R0315:Vmn2r117
|
UTSW |
17 |
23,679,139 (GRCm39) |
missense |
probably benign |
0.11 |
R0610:Vmn2r117
|
UTSW |
17 |
23,694,488 (GRCm39) |
missense |
probably benign |
0.00 |
R0747:Vmn2r117
|
UTSW |
17 |
23,694,477 (GRCm39) |
nonsense |
probably null |
|
R1411:Vmn2r117
|
UTSW |
17 |
23,679,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Vmn2r117
|
UTSW |
17 |
23,697,447 (GRCm39) |
missense |
probably benign |
0.00 |
R1853:Vmn2r117
|
UTSW |
17 |
23,696,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R1925:Vmn2r117
|
UTSW |
17 |
23,697,363 (GRCm39) |
missense |
probably benign |
0.00 |
R1940:Vmn2r117
|
UTSW |
17 |
23,696,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Vmn2r117
|
UTSW |
17 |
23,696,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Vmn2r117
|
UTSW |
17 |
23,679,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2698:Vmn2r117
|
UTSW |
17 |
23,678,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R2972:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2973:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2974:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3161:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
R3848:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
R4082:Vmn2r117
|
UTSW |
17 |
23,679,080 (GRCm39) |
missense |
probably benign |
0.00 |
R4320:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
R4560:Vmn2r117
|
UTSW |
17 |
23,678,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Vmn2r117
|
UTSW |
17 |
23,697,390 (GRCm39) |
missense |
probably benign |
0.01 |
R4881:Vmn2r117
|
UTSW |
17 |
23,696,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4908:Vmn2r117
|
UTSW |
17 |
23,678,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
R5078:Vmn2r117
|
UTSW |
17 |
23,679,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Vmn2r117
|
UTSW |
17 |
23,696,848 (GRCm39) |
nonsense |
probably null |
|
R5774:Vmn2r117
|
UTSW |
17 |
23,696,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R6014:Vmn2r117
|
UTSW |
17 |
23,698,535 (GRCm39) |
missense |
probably damaging |
0.97 |
R6390:Vmn2r117
|
UTSW |
17 |
23,679,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6520:Vmn2r117
|
UTSW |
17 |
23,679,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R6674:Vmn2r117
|
UTSW |
17 |
23,679,023 (GRCm39) |
nonsense |
probably null |
|
R6736:Vmn2r117
|
UTSW |
17 |
23,697,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R6909:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6913:Vmn2r117
|
UTSW |
17 |
23,698,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R7260:Vmn2r117
|
UTSW |
17 |
23,694,359 (GRCm39) |
missense |
probably benign |
0.06 |
R7440:Vmn2r117
|
UTSW |
17 |
23,694,539 (GRCm39) |
missense |
probably benign |
0.26 |
R7443:Vmn2r117
|
UTSW |
17 |
23,679,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Vmn2r117
|
UTSW |
17 |
23,679,107 (GRCm39) |
missense |
probably benign |
0.25 |
R7449:Vmn2r117
|
UTSW |
17 |
23,678,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Vmn2r117
|
UTSW |
17 |
23,696,265 (GRCm39) |
missense |
probably damaging |
0.98 |
R7914:Vmn2r117
|
UTSW |
17 |
23,679,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8001:Vmn2r117
|
UTSW |
17 |
23,698,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8029:Vmn2r117
|
UTSW |
17 |
23,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
R8340:Vmn2r117
|
UTSW |
17 |
23,679,511 (GRCm39) |
missense |
probably benign |
0.01 |
R8519:Vmn2r117
|
UTSW |
17 |
23,698,442 (GRCm39) |
missense |
probably benign |
|
R8723:Vmn2r117
|
UTSW |
17 |
23,696,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Vmn2r117
|
UTSW |
17 |
23,679,143 (GRCm39) |
missense |
probably benign |
0.02 |
R9010:Vmn2r117
|
UTSW |
17 |
23,679,445 (GRCm39) |
missense |
probably benign |
0.10 |
R9129:Vmn2r117
|
UTSW |
17 |
23,678,918 (GRCm39) |
nonsense |
probably null |
|
R9244:Vmn2r117
|
UTSW |
17 |
23,696,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R9464:Vmn2r117
|
UTSW |
17 |
23,696,578 (GRCm39) |
missense |
probably benign |
0.23 |
R9620:Vmn2r117
|
UTSW |
17 |
23,697,450 (GRCm39) |
missense |
probably damaging |
0.97 |
V5622:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
V5622:Vmn2r117
|
UTSW |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r117
|
UTSW |
17 |
23,678,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCTACATGGACAGATTATGCC -3'
(R):5'- CTGGAATGGATGCACTTTAACTG -3'
Sequencing Primer
(F):5'- CACACTTGGTTTGGGCAT -3'
(R):5'- GCACTTTAACTGTGAGGTCTCAGC -3'
|
Posted On |
2019-06-26 |