Incidental Mutation 'IGL03168:Vmn1r17'
| ID |
411710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r17
|
| Ensembl Gene |
ENSMUSG00000115644 |
| Gene Name |
vomeronasal 1 receptor 17 |
| Synonyms |
V1rc16 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
IGL03168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
57337452-57338363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57337583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 212
(I212F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176395]
[ENSMUST00000227186]
[ENSMUST00000227966]
[ENSMUST00000228156]
[ENSMUST00000228294]
[ENSMUST00000228342]
|
| AlphaFold |
Q8R2D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176395
AA Change: I261F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135746
Gene: ENSMUSG00000093411
AA Change: I261F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227186
AA Change: I261F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227966
AA Change: I261F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228156
AA Change: I212F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228294
AA Change: I212F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228342
AA Change: I261F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
| Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
| Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
C |
14: 31,246,377 (GRCm39) |
Y445C |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,848 (GRCm39) |
S353T |
possibly damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
| Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
| Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
| Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,982,881 (GRCm39) |
L348Q |
probably damaging |
Het |
| Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
probably damaging |
Het |
|
| Other mutations in Vmn1r17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Vmn1r17
|
APN |
6 |
57,338,185 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02073:Vmn1r17
|
APN |
6 |
57,337,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03117:Vmn1r17
|
APN |
6 |
57,337,501 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0472:Vmn1r17
|
UTSW |
6 |
57,338,304 (GRCm39) |
missense |
probably benign |
|
|
R0590:Vmn1r17
|
UTSW |
6 |
57,337,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0648:Vmn1r17
|
UTSW |
6 |
57,337,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1025:Vmn1r17
|
UTSW |
6 |
57,338,240 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1545:Vmn1r17
|
UTSW |
6 |
57,338,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2035:Vmn1r17
|
UTSW |
6 |
57,337,573 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2507:Vmn1r17
|
UTSW |
6 |
57,338,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Vmn1r17
|
UTSW |
6 |
57,337,855 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3084:Vmn1r17
|
UTSW |
6 |
57,337,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3688:Vmn1r17
|
UTSW |
6 |
57,337,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3696:Vmn1r17
|
UTSW |
6 |
57,337,523 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4436:Vmn1r17
|
UTSW |
6 |
57,337,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4741:Vmn1r17
|
UTSW |
6 |
57,338,337 (GRCm39) |
nonsense |
probably null |
|
|
R4989:Vmn1r17
|
UTSW |
6 |
57,337,460 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5013:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5133:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5134:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5162:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5184:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5185:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5831:Vmn1r17
|
UTSW |
6 |
57,337,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6487:Vmn1r17
|
UTSW |
6 |
57,338,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7436:Vmn1r17
|
UTSW |
6 |
57,337,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7600:Vmn1r17
|
UTSW |
6 |
57,337,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8944:Vmn1r17
|
UTSW |
6 |
57,338,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation