Incidental Mutation 'R6131:Vmn2r66'
| ID |
487130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r66
|
| Ensembl Gene |
ENSMUSG00000094950 |
| Gene Name |
vomeronasal 2, receptor 66 |
| Synonyms |
F830104D24Rik |
| MMRRC Submission |
044278-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6131 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84643853-84661228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84644224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 729
(I729F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124773]
|
| AlphaFold |
A0A3B2W842 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124773
AA Change: I729F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122645
Gene: ENSMUSG00000094950
AA Change: I729F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
463 |
5e-31 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
6e-21 |
PFAM |
|
Pfam:7tm_3
|
589 |
827 |
3.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,793 (GRCm39) |
W75R |
probably damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,776,324 (GRCm39) |
K165R |
possibly damaging |
Het |
| Abca15 |
T |
C |
7: 119,939,428 (GRCm39) |
V274A |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,065,874 (GRCm39) |
S405P |
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 39,419,638 (GRCm39) |
G533* |
probably null |
Het |
| Atxn2l |
T |
C |
7: 126,102,337 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,907,387 (GRCm39) |
L995H |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,756 (GRCm39) |
D255G |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,971,068 (GRCm39) |
H1023R |
possibly damaging |
Het |
| Cog5 |
T |
A |
12: 31,936,220 (GRCm39) |
M589K |
possibly damaging |
Het |
| Col25a1 |
C |
A |
3: 130,329,114 (GRCm39) |
P337Q |
probably damaging |
Het |
| Cyfip1 |
T |
G |
7: 55,523,228 (GRCm39) |
V51G |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,292,626 (GRCm39) |
I3004F |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,671,569 (GRCm39) |
D758V |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,653,534 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,827,510 (GRCm39) |
H573Q |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,885,201 (GRCm39) |
D199G |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,894,635 (GRCm38) |
Y811C |
possibly damaging |
Het |
| G6pd2 |
A |
T |
5: 61,966,593 (GRCm39) |
S123C |
probably benign |
Het |
| Gm1818 |
T |
A |
12: 48,602,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29340 |
C |
T |
2: 116,798,519 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc7 |
C |
A |
13: 23,758,310 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
G |
T |
10: 79,569,742 (GRCm39) |
G581W |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,042,313 (GRCm39) |
|
probably null |
Het |
| Lonp1 |
T |
C |
17: 56,921,457 (GRCm39) |
E926G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,396,026 (GRCm39) |
I2415V |
probably benign |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Mmp10 |
A |
G |
9: 7,503,633 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
A |
8: 10,619,877 (GRCm39) |
I1476N |
probably benign |
Het |
| Nectin3 |
G |
T |
16: 46,215,515 (GRCm39) |
H76N |
probably damaging |
Het |
| Nphs2 |
G |
A |
1: 156,153,521 (GRCm39) |
R204Q |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,940,256 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b53 |
T |
A |
9: 38,667,362 (GRCm39) |
I126N |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pate10 |
T |
A |
9: 35,652,840 (GRCm39) |
C27* |
probably null |
Het |
| Psme2b |
T |
C |
11: 48,836,752 (GRCm39) |
D65G |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,012,172 (GRCm39) |
K214E |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,630,206 (GRCm39) |
T241S |
probably damaging |
Het |
| Samd9l |
C |
G |
6: 3,377,252 (GRCm39) |
G3A |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,720,962 (GRCm39) |
|
probably null |
Het |
| Spag16 |
A |
G |
1: 70,764,242 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
T |
A |
13: 65,183,485 (GRCm39) |
D342E |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,719,642 (GRCm39) |
|
probably null |
Het |
| Taar7b |
A |
T |
10: 23,876,615 (GRCm39) |
Y260F |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,517 (GRCm39) |
I289V |
probably damaging |
Het |
| Vmn2r130 |
C |
T |
17: 23,282,629 (GRCm39) |
A103V |
probably benign |
Het |
| Vmn2r39 |
A |
G |
7: 9,017,963 (GRCm39) |
V791A |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,269,137 (GRCm39) |
D93V |
probably damaging |
Het |
|
| Other mutations in Vmn2r66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Vmn2r66
|
APN |
7 |
84,656,299 (GRCm39) |
missense |
probably benign |
|
|
IGL01562:Vmn2r66
|
APN |
7 |
84,656,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01689:Vmn2r66
|
APN |
7 |
84,657,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Vmn2r66
|
APN |
7 |
84,643,908 (GRCm39) |
missense |
probably benign |
|
|
IGL02415:Vmn2r66
|
APN |
7 |
84,656,020 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02439:Vmn2r66
|
APN |
7 |
84,654,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02545:Vmn2r66
|
APN |
7 |
84,655,798 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02708:Vmn2r66
|
APN |
7 |
84,655,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02794:Vmn2r66
|
APN |
7 |
84,644,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02885:Vmn2r66
|
APN |
7 |
84,644,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Vmn2r66
|
APN |
7 |
84,656,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03027:Vmn2r66
|
APN |
7 |
84,644,777 (GRCm39) |
splice site |
probably benign |
|
|
IGL03081:Vmn2r66
|
APN |
7 |
84,657,138 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Vmn2r66
|
UTSW |
7 |
84,644,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Vmn2r66
|
UTSW |
7 |
84,654,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Vmn2r66
|
UTSW |
7 |
84,656,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0557:Vmn2r66
|
UTSW |
7 |
84,643,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Vmn2r66
|
UTSW |
7 |
84,644,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0883:Vmn2r66
|
UTSW |
7 |
84,657,070 (GRCm39) |
missense |
probably benign |
|
|
R1159:Vmn2r66
|
UTSW |
7 |
84,644,613 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1168:Vmn2r66
|
UTSW |
7 |
84,656,062 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1172:Vmn2r66
|
UTSW |
7 |
84,654,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1175:Vmn2r66
|
UTSW |
7 |
84,654,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1538:Vmn2r66
|
UTSW |
7 |
84,644,166 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1658:Vmn2r66
|
UTSW |
7 |
84,656,955 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1937:Vmn2r66
|
UTSW |
7 |
84,644,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1989:Vmn2r66
|
UTSW |
7 |
84,661,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Vmn2r66
|
UTSW |
7 |
84,644,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Vmn2r66
|
UTSW |
7 |
84,661,027 (GRCm39) |
splice site |
probably null |
|
|
R3686:Vmn2r66
|
UTSW |
7 |
84,644,397 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4152:Vmn2r66
|
UTSW |
7 |
84,654,800 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4500:Vmn2r66
|
UTSW |
7 |
84,657,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn2r66
|
UTSW |
7 |
84,644,296 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4656:Vmn2r66
|
UTSW |
7 |
84,661,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4668:Vmn2r66
|
UTSW |
7 |
84,643,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Vmn2r66
|
UTSW |
7 |
84,656,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Vmn2r66
|
UTSW |
7 |
84,656,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5223:Vmn2r66
|
UTSW |
7 |
84,657,093 (GRCm39) |
missense |
probably benign |
|
|
R5377:Vmn2r66
|
UTSW |
7 |
84,656,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Vmn2r66
|
UTSW |
7 |
84,657,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Vmn2r66
|
UTSW |
7 |
84,654,951 (GRCm39) |
nonsense |
probably null |
|
|
R5749:Vmn2r66
|
UTSW |
7 |
84,655,979 (GRCm39) |
nonsense |
probably null |
|
|
R6183:Vmn2r66
|
UTSW |
7 |
84,644,766 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6509:Vmn2r66
|
UTSW |
7 |
84,656,054 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6930:Vmn2r66
|
UTSW |
7 |
84,661,216 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6992:Vmn2r66
|
UTSW |
7 |
84,654,436 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7015:Vmn2r66
|
UTSW |
7 |
84,644,766 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7302:Vmn2r66
|
UTSW |
7 |
84,654,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7516:Vmn2r66
|
UTSW |
7 |
84,661,176 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7763:Vmn2r66
|
UTSW |
7 |
84,654,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7814:Vmn2r66
|
UTSW |
7 |
84,656,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8077:Vmn2r66
|
UTSW |
7 |
84,656,093 (GRCm39) |
missense |
probably benign |
|
|
R8307:Vmn2r66
|
UTSW |
7 |
84,656,270 (GRCm39) |
missense |
probably benign |
|
|
R8315:Vmn2r66
|
UTSW |
7 |
84,643,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8490:Vmn2r66
|
UTSW |
7 |
84,654,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8511:Vmn2r66
|
UTSW |
7 |
84,656,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8781:Vmn2r66
|
UTSW |
7 |
84,644,355 (GRCm39) |
nonsense |
probably null |
|
|
R8812:Vmn2r66
|
UTSW |
7 |
84,654,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9203:Vmn2r66
|
UTSW |
7 |
84,654,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9277:Vmn2r66
|
UTSW |
7 |
84,661,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCCAGACACTGCAGAAC -3'
(R):5'- GCAGACCACATTTGCCATTG -3'
Sequencing Primer
(F):5'- CACCAGCATGCTGAATGTCAAGAG -3'
(R):5'- TACTGTAGTATTGGCATTCAAGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation