Incidental Mutation 'R5977:Vmn2r54'
ID |
481186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r54
|
Ensembl Gene |
ENSMUSG00000096593 |
Gene Name |
vomeronasal 2, receptor 54 |
Synonyms |
|
MMRRC Submission |
044159-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5977 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12366143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 264
(F264L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
AlphaFold |
A0A3B2W422 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086210
AA Change: F264L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000083386 Gene: ENSMUSG00000096593 AA Change: F264L
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
397 |
4.3e-58 |
PFAM |
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
Pfam:7tm_3
|
526 |
763 |
1.2e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,451,106 (GRCm39) |
R446S |
probably damaging |
Het |
2900092C05Rik |
A |
T |
7: 12,288,664 (GRCm39) |
H159L |
probably benign |
Het |
4933405O20Rik |
G |
A |
7: 50,249,838 (GRCm39) |
V291I |
probably damaging |
Het |
A2ml1 |
A |
G |
6: 128,558,085 (GRCm39) |
Y24H |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,583,678 (GRCm39) |
|
probably null |
Het |
Ankrd52 |
C |
T |
10: 128,218,566 (GRCm39) |
H351Y |
probably damaging |
Het |
Anks6 |
C |
A |
4: 47,035,748 (GRCm39) |
A588S |
probably benign |
Het |
Arl15 |
T |
G |
13: 114,070,645 (GRCm39) |
V80G |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,904,628 (GRCm39) |
I532T |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,910,031 (GRCm39) |
C1475R |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,253,719 (GRCm39) |
R394Q |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,359,697 (GRCm39) |
I254T |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,803,447 (GRCm39) |
T827A |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,749,571 (GRCm39) |
V421A |
possibly damaging |
Het |
Cped1 |
T |
C |
6: 22,254,607 (GRCm39) |
V1000A |
probably damaging |
Het |
Cr1l |
A |
T |
1: 194,797,076 (GRCm39) |
Y282* |
probably null |
Het |
Cryl1 |
G |
T |
14: 57,620,236 (GRCm39) |
T43K |
probably benign |
Het |
Csmd2 |
C |
T |
4: 127,952,827 (GRCm39) |
P92L |
probably damaging |
Het |
Ddx60 |
G |
A |
8: 62,474,444 (GRCm39) |
|
probably null |
Het |
Dhrs7b |
C |
T |
11: 60,743,328 (GRCm39) |
R187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,451 (GRCm39) |
T88A |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,411,707 (GRCm39) |
E305G |
possibly damaging |
Het |
Dscaml1 |
A |
C |
9: 45,632,596 (GRCm39) |
N1154T |
probably benign |
Het |
Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,347,726 (GRCm39) |
Y68F |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,603 (GRCm39) |
V382A |
probably damaging |
Het |
Gm18358 |
A |
G |
7: 84,739,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm3443 |
T |
G |
19: 21,534,960 (GRCm39) |
I75S |
probably benign |
Het |
Gpr182 |
C |
A |
10: 127,586,748 (GRCm39) |
V68F |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,340,604 (GRCm39) |
M1651K |
possibly damaging |
Het |
Hey1 |
A |
T |
3: 8,731,418 (GRCm39) |
|
probably null |
Het |
Ighv1-43 |
A |
C |
12: 114,909,829 (GRCm39) |
V31G |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,459,692 (GRCm39) |
V450A |
probably damaging |
Het |
Kbtbd4 |
T |
G |
2: 90,736,487 (GRCm39) |
V166G |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,748,197 (GRCm39) |
N294S |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,099,720 (GRCm39) |
K61E |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,350,104 (GRCm39) |
S616P |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,973,866 (GRCm39) |
L1292P |
probably damaging |
Het |
Nek8 |
C |
T |
11: 78,058,651 (GRCm39) |
V550M |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,721 (GRCm39) |
|
probably null |
Het |
Or2y17 |
G |
A |
11: 49,231,592 (GRCm39) |
V78M |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,572 (GRCm39) |
M59K |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Papln |
G |
A |
12: 83,831,143 (GRCm39) |
W1099* |
probably null |
Het |
Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
Prss39 |
T |
G |
1: 34,541,783 (GRCm39) |
C287G |
probably damaging |
Het |
Pyroxd2 |
A |
G |
19: 42,723,911 (GRCm39) |
V338A |
probably damaging |
Het |
Rab19 |
T |
A |
6: 39,360,860 (GRCm39) |
F3I |
probably benign |
Het |
Relt |
A |
G |
7: 100,512,355 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 109,977,193 (GRCm39) |
H647L |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,513,689 (GRCm39) |
C327Y |
probably damaging |
Het |
Sec14l4 |
A |
C |
11: 3,990,055 (GRCm39) |
Q118P |
possibly damaging |
Het |
Shisa9 |
C |
G |
16: 12,085,292 (GRCm39) |
D300E |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,740,580 (GRCm39) |
|
probably benign |
Het |
Sncaip |
A |
G |
18: 53,002,393 (GRCm39) |
T305A |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,784,889 (GRCm39) |
V1104A |
probably damaging |
Het |
Ugt1a6b |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Unc119b |
A |
G |
5: 115,268,612 (GRCm39) |
V91A |
probably benign |
Het |
Uvssa |
A |
G |
5: 33,547,204 (GRCm39) |
K257E |
probably damaging |
Het |
Vmn1r199 |
A |
C |
13: 22,567,416 (GRCm39) |
M237L |
probably benign |
Het |
Vmn1r69 |
G |
A |
7: 10,314,417 (GRCm39) |
R26W |
probably damaging |
Het |
Vmn2r7 |
C |
T |
3: 64,623,464 (GRCm39) |
W285* |
probably null |
Het |
Vmn2r78 |
T |
A |
7: 86,569,541 (GRCm39) |
S145T |
possibly damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,604,115 (GRCm39) |
N764K |
probably benign |
Het |
Wdr5b |
T |
G |
16: 35,862,374 (GRCm39) |
H164Q |
probably damaging |
Het |
Zcchc7 |
G |
A |
4: 44,894,982 (GRCm39) |
V236I |
possibly damaging |
Het |
Zfp729b |
G |
A |
13: 67,739,740 (GRCm39) |
R842C |
probably benign |
Het |
|
Other mutations in Vmn2r54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Vmn2r54
|
APN |
7 |
12,365,840 (GRCm39) |
splice site |
probably benign |
|
IGL01778:Vmn2r54
|
APN |
7 |
12,366,009 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01998:Vmn2r54
|
APN |
7 |
12,349,227 (GRCm39) |
missense |
probably benign |
|
IGL02028:Vmn2r54
|
APN |
7 |
12,366,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02064:Vmn2r54
|
APN |
7 |
12,349,533 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02238:Vmn2r54
|
APN |
7 |
12,369,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Vmn2r54
|
APN |
7 |
12,366,355 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03120:Vmn2r54
|
APN |
7 |
12,349,314 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Vmn2r54
|
UTSW |
7 |
12,363,669 (GRCm39) |
missense |
probably benign |
0.06 |
R0212:Vmn2r54
|
UTSW |
7 |
12,366,424 (GRCm39) |
missense |
probably benign |
|
R0360:Vmn2r54
|
UTSW |
7 |
12,349,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Vmn2r54
|
UTSW |
7 |
12,366,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Vmn2r54
|
UTSW |
7 |
12,350,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1738:Vmn2r54
|
UTSW |
7 |
12,369,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1856:Vmn2r54
|
UTSW |
7 |
12,366,238 (GRCm39) |
missense |
probably benign |
|
R2012:Vmn2r54
|
UTSW |
7 |
12,349,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Vmn2r54
|
UTSW |
7 |
12,363,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2160:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably benign |
0.29 |
R2397:Vmn2r54
|
UTSW |
7 |
12,349,578 (GRCm39) |
missense |
probably damaging |
0.98 |
R2430:Vmn2r54
|
UTSW |
7 |
12,365,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R2829:Vmn2r54
|
UTSW |
7 |
12,349,617 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2975:Vmn2r54
|
UTSW |
7 |
12,369,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3005:Vmn2r54
|
UTSW |
7 |
12,349,221 (GRCm39) |
missense |
probably benign |
0.28 |
R3725:Vmn2r54
|
UTSW |
7 |
12,366,223 (GRCm39) |
missense |
probably benign |
0.42 |
R4486:Vmn2r54
|
UTSW |
7 |
12,366,199 (GRCm39) |
nonsense |
probably null |
|
R4881:Vmn2r54
|
UTSW |
7 |
12,363,598 (GRCm39) |
missense |
probably benign |
0.00 |
R4907:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
R5536:Vmn2r54
|
UTSW |
7 |
12,366,343 (GRCm39) |
missense |
probably benign |
0.03 |
R5637:Vmn2r54
|
UTSW |
7 |
12,349,296 (GRCm39) |
missense |
probably benign |
0.41 |
R5703:Vmn2r54
|
UTSW |
7 |
12,363,594 (GRCm39) |
missense |
probably benign |
0.22 |
R5769:Vmn2r54
|
UTSW |
7 |
12,349,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5972:Vmn2r54
|
UTSW |
7 |
12,369,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Vmn2r54
|
UTSW |
7 |
12,349,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Vmn2r54
|
UTSW |
7 |
12,366,205 (GRCm39) |
missense |
probably damaging |
0.98 |
R6176:Vmn2r54
|
UTSW |
7 |
12,349,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Vmn2r54
|
UTSW |
7 |
12,365,883 (GRCm39) |
missense |
probably benign |
0.00 |
R6371:Vmn2r54
|
UTSW |
7 |
12,349,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6804:Vmn2r54
|
UTSW |
7 |
12,363,792 (GRCm39) |
missense |
probably benign |
|
R6886:Vmn2r54
|
UTSW |
7 |
12,366,080 (GRCm39) |
missense |
probably benign |
0.02 |
R7041:Vmn2r54
|
UTSW |
7 |
12,363,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R7058:Vmn2r54
|
UTSW |
7 |
12,349,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7113:Vmn2r54
|
UTSW |
7 |
12,350,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Vmn2r54
|
UTSW |
7 |
12,356,078 (GRCm39) |
missense |
probably benign |
0.00 |
R7126:Vmn2r54
|
UTSW |
7 |
12,366,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7337:Vmn2r54
|
UTSW |
7 |
12,356,044 (GRCm39) |
missense |
probably benign |
0.00 |
R7406:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
R7634:Vmn2r54
|
UTSW |
7 |
12,349,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R7793:Vmn2r54
|
UTSW |
7 |
12,366,196 (GRCm39) |
missense |
probably damaging |
0.98 |
R8139:Vmn2r54
|
UTSW |
7 |
12,349,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8158:Vmn2r54
|
UTSW |
7 |
12,349,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R8179:Vmn2r54
|
UTSW |
7 |
12,366,018 (GRCm39) |
nonsense |
probably null |
|
R8440:Vmn2r54
|
UTSW |
7 |
12,350,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8712:Vmn2r54
|
UTSW |
7 |
12,369,877 (GRCm39) |
missense |
probably benign |
0.22 |
R8853:Vmn2r54
|
UTSW |
7 |
12,349,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Vmn2r54
|
UTSW |
7 |
12,363,702 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9146:Vmn2r54
|
UTSW |
7 |
12,366,647 (GRCm39) |
missense |
probably benign |
0.05 |
R9157:Vmn2r54
|
UTSW |
7 |
12,366,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9344:Vmn2r54
|
UTSW |
7 |
12,366,283 (GRCm39) |
missense |
probably benign |
|
R9423:Vmn2r54
|
UTSW |
7 |
12,349,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R9534:Vmn2r54
|
UTSW |
7 |
12,366,093 (GRCm39) |
missense |
probably benign |
0.03 |
R9632:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9661:Vmn2r54
|
UTSW |
7 |
12,349,166 (GRCm39) |
missense |
probably benign |
|
R9710:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
U24488:Vmn2r54
|
UTSW |
7 |
12,349,356 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0066:Vmn2r54
|
UTSW |
7 |
12,349,297 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Vmn2r54
|
UTSW |
7 |
12,366,035 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATTGTGCAGAGCATGGGC -3'
(R):5'- CAGCTCATCCTACGTGGTTTAC -3'
Sequencing Primer
(F):5'- AGCAGCATCAATTTTACTCACTTCTG -3'
(R):5'- CTGGGTGTCCCTGTCTCAG -3'
|
Posted On |
2017-06-26 |