Incidental Mutation 'R2229:Vmn2r67'
| ID |
239600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r67
|
| Ensembl Gene |
ENSMUSG00000095664 |
| Gene Name |
vomeronasal 2, receptor 67 |
| Synonyms |
EG620672 |
| MMRRC Submission |
040230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R2229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84785448-84805110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84801250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 229
(I229F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168730]
|
| AlphaFold |
K7N6T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168730
AA Change: I229F
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126007
Gene: ENSMUSG00000095664
AA Change: I229F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
464 |
2.1e-31 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
4.8e-19 |
PFAM |
|
Pfam:7tm_3
|
590 |
827 |
1.4e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,404 (GRCm39) |
I291L |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,694,056 (GRCm39) |
R407L |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,311,795 (GRCm39) |
V212E |
probably damaging |
Het |
| Adgrg7 |
C |
T |
16: 56,572,766 (GRCm39) |
S350N |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,083,126 (GRCm39) |
T448A |
probably benign |
Het |
| Aldh1l1 |
C |
G |
6: 90,560,168 (GRCm39) |
T605R |
probably damaging |
Het |
| Arfip1 |
A |
T |
3: 84,455,280 (GRCm39) |
N18K |
probably damaging |
Het |
| Atp6v1b2 |
C |
A |
8: 69,555,411 (GRCm39) |
|
probably null |
Het |
| Banp |
G |
A |
8: 122,705,424 (GRCm39) |
S98N |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,059,945 (GRCm39) |
D601G |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,474,901 (GRCm39) |
I20T |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,575,816 (GRCm39) |
V744A |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,955,867 (GRCm39) |
E311G |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,948,856 (GRCm39) |
|
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,718,772 (GRCm39) |
Y615H |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,758,485 (GRCm39) |
P502S |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,052,925 (GRCm39) |
E367G |
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,274,171 (GRCm39) |
D67G |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,185,490 (GRCm39) |
|
probably benign |
Het |
| Gm7853 |
A |
G |
14: 35,811,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
G |
3: 63,921,684 (GRCm39) |
Y562* |
probably null |
Het |
| Golga2 |
C |
A |
2: 32,196,477 (GRCm39) |
P976T |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,586,010 (GRCm39) |
I314F |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,502,891 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gykl1 |
A |
G |
18: 52,828,339 (GRCm39) |
T516A |
probably benign |
Het |
| H2ac21 |
T |
C |
3: 96,127,422 (GRCm39) |
L64P |
possibly damaging |
Het |
| Ifit1bl2 |
G |
T |
19: 34,596,630 (GRCm39) |
L329M |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,792 (GRCm39) |
S920P |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,671 (GRCm39) |
S231T |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,926,507 (GRCm39) |
Y482N |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,740,226 (GRCm39) |
|
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,773,694 (GRCm39) |
S121G |
probably benign |
Het |
| Mppe1 |
A |
G |
18: 67,361,082 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,415,381 (GRCm39) |
C2776S |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,199,174 (GRCm39) |
N1893K |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,704,117 (GRCm39) |
T1932A |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,970,904 (GRCm39) |
T296A |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,364,361 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
T |
8: 22,603,648 (GRCm39) |
N151K |
possibly damaging |
Het |
| Nup93 |
C |
T |
8: 95,030,819 (GRCm39) |
T305I |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,006,903 (GRCm39) |
H663Q |
probably benign |
Het |
| Optn |
T |
A |
2: 5,028,928 (GRCm39) |
H525L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,239,407 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,307,014 (GRCm39) |
K1801E |
probably damaging |
Het |
| Pkd2l2 |
G |
A |
18: 34,563,382 (GRCm39) |
V478M |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,711,098 (GRCm39) |
R224L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,874,962 (GRCm39) |
T39A |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,104 (GRCm39) |
C182R |
probably damaging |
Het |
| Rcan3 |
T |
C |
4: 135,152,688 (GRCm39) |
D11G |
probably benign |
Het |
| Rgsl1 |
C |
A |
1: 153,698,104 (GRCm39) |
W482L |
possibly damaging |
Het |
| Sfxn4 |
C |
T |
19: 60,839,458 (GRCm39) |
G200E |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,707,180 (GRCm39) |
I848T |
probably damaging |
Het |
| Slc7a13 |
T |
C |
4: 19,839,399 (GRCm39) |
V334A |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,324,210 (GRCm39) |
|
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,824,244 (GRCm39) |
I156L |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,072,334 (GRCm39) |
|
probably null |
Het |
| Tas2r104 |
G |
A |
6: 131,662,095 (GRCm39) |
H205Y |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,249 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
A |
8: 34,061,265 (GRCm39) |
H232N |
probably benign |
Het |
| Tg |
A |
T |
15: 66,545,860 (GRCm39) |
Q194L |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,198,513 (GRCm39) |
|
probably null |
Het |
| Trim25 |
T |
A |
11: 88,907,447 (GRCm39) |
V602E |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,824,983 (GRCm39) |
E54G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,559,668 (GRCm39) |
T29578A |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,480,629 (GRCm39) |
Q960R |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,971,700 (GRCm39) |
I727V |
probably benign |
Het |
| Vmn2r92 |
A |
C |
17: 18,387,654 (GRCm39) |
I220L |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,166,467 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,745 (GRCm39) |
Y437N |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,520,557 (GRCm39) |
I540T |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,743,384 (GRCm39) |
I60M |
probably damaging |
Het |
|
| Other mutations in Vmn2r67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Vmn2r67
|
APN |
7 |
84,801,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Vmn2r67
|
APN |
7 |
84,786,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Vmn2r67
|
APN |
7 |
84,785,834 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01674:Vmn2r67
|
APN |
7 |
84,785,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Vmn2r67
|
APN |
7 |
84,800,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02013:Vmn2r67
|
APN |
7 |
84,800,863 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02115:Vmn2r67
|
APN |
7 |
84,800,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02250:Vmn2r67
|
APN |
7 |
84,805,008 (GRCm39) |
missense |
probably benign |
|
|
IGL02252:Vmn2r67
|
APN |
7 |
84,805,008 (GRCm39) |
missense |
probably benign |
|
|
IGL02328:Vmn2r67
|
APN |
7 |
84,799,898 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02740:Vmn2r67
|
APN |
7 |
84,785,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02940:Vmn2r67
|
APN |
7 |
84,785,951 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03237:Vmn2r67
|
APN |
7 |
84,799,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Vmn2r67
|
UTSW |
7 |
84,799,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1029:Vmn2r67
|
UTSW |
7 |
84,785,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Vmn2r67
|
UTSW |
7 |
84,800,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1282:Vmn2r67
|
UTSW |
7 |
84,785,932 (GRCm39) |
missense |
probably benign |
|
|
R1416:Vmn2r67
|
UTSW |
7 |
84,800,824 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1429:Vmn2r67
|
UTSW |
7 |
84,802,031 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1462:Vmn2r67
|
UTSW |
7 |
84,805,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Vmn2r67
|
UTSW |
7 |
84,805,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1970:Vmn2r67
|
UTSW |
7 |
84,801,013 (GRCm39) |
missense |
probably benign |
|
|
R2246:Vmn2r67
|
UTSW |
7 |
84,785,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Vmn2r67
|
UTSW |
7 |
84,786,182 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2398:Vmn2r67
|
UTSW |
7 |
84,785,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Vmn2r67
|
UTSW |
7 |
84,799,722 (GRCm39) |
splice site |
probably null |
|
|
R4666:Vmn2r67
|
UTSW |
7 |
84,799,831 (GRCm39) |
missense |
probably benign |
|
|
R4669:Vmn2r67
|
UTSW |
7 |
84,799,732 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4966:Vmn2r67
|
UTSW |
7 |
84,785,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Vmn2r67
|
UTSW |
7 |
84,801,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Vmn2r67
|
UTSW |
7 |
84,786,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Vmn2r67
|
UTSW |
7 |
84,785,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Vmn2r67
|
UTSW |
7 |
84,785,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Vmn2r67
|
UTSW |
7 |
84,801,023 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5574:Vmn2r67
|
UTSW |
7 |
84,801,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5643:Vmn2r67
|
UTSW |
7 |
84,799,151 (GRCm39) |
nonsense |
probably null |
|
|
R5914:Vmn2r67
|
UTSW |
7 |
84,801,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Vmn2r67
|
UTSW |
7 |
84,799,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6291:Vmn2r67
|
UTSW |
7 |
84,799,142 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6309:Vmn2r67
|
UTSW |
7 |
84,801,124 (GRCm39) |
missense |
probably benign |
|
|
R6442:Vmn2r67
|
UTSW |
7 |
84,805,046 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6665:Vmn2r67
|
UTSW |
7 |
84,785,900 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6701:Vmn2r67
|
UTSW |
7 |
84,802,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Vmn2r67
|
UTSW |
7 |
84,801,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6852:Vmn2r67
|
UTSW |
7 |
84,801,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6991:Vmn2r67
|
UTSW |
7 |
84,804,953 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7143:Vmn2r67
|
UTSW |
7 |
84,801,846 (GRCm39) |
missense |
probably benign |
|
|
R7197:Vmn2r67
|
UTSW |
7 |
84,785,774 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7393:Vmn2r67
|
UTSW |
7 |
84,805,086 (GRCm39) |
missense |
probably null |
0.87 |
|
R7420:Vmn2r67
|
UTSW |
7 |
84,785,944 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7622:Vmn2r67
|
UTSW |
7 |
84,785,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Vmn2r67
|
UTSW |
7 |
84,805,019 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7665:Vmn2r67
|
UTSW |
7 |
84,801,196 (GRCm39) |
nonsense |
probably null |
|
|
R7896:Vmn2r67
|
UTSW |
7 |
84,785,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:Vmn2r67
|
UTSW |
7 |
84,801,036 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8026:Vmn2r67
|
UTSW |
7 |
84,785,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Vmn2r67
|
UTSW |
7 |
84,805,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8317:Vmn2r67
|
UTSW |
7 |
84,785,834 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8363:Vmn2r67
|
UTSW |
7 |
84,804,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8421:Vmn2r67
|
UTSW |
7 |
84,785,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8444:Vmn2r67
|
UTSW |
7 |
84,785,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8751:Vmn2r67
|
UTSW |
7 |
84,801,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8810:Vmn2r67
|
UTSW |
7 |
84,786,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8811:Vmn2r67
|
UTSW |
7 |
84,799,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9215:Vmn2r67
|
UTSW |
7 |
84,802,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9342:Vmn2r67
|
UTSW |
7 |
84,785,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Vmn2r67
|
UTSW |
7 |
84,804,917 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9453:Vmn2r67
|
UTSW |
7 |
84,800,697 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9471:Vmn2r67
|
UTSW |
7 |
84,799,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9526:Vmn2r67
|
UTSW |
7 |
84,785,834 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9538:Vmn2r67
|
UTSW |
7 |
84,801,327 (GRCm39) |
missense |
|
|
|
R9544:Vmn2r67
|
UTSW |
7 |
84,786,317 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9574:Vmn2r67
|
UTSW |
7 |
84,786,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9599:Vmn2r67
|
UTSW |
7 |
84,804,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9768:Vmn2r67
|
UTSW |
7 |
84,802,037 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGGAATATAGCATGAAATCTCC -3'
(R):5'- AATGAGCAATTTCCTCACCTTTACC -3'
Sequencing Primer
(F):5'- CCCAGATTCTAAAAATGCCTTTGG -3'
(R):5'- TCACCTTTACCAGATATCTCCAAAGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation