Incidental Mutation 'R6375:Or51g2'
| ID |
514915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51g2
|
| Ensembl Gene |
ENSMUSG00000043354 |
| Gene Name |
olfactory receptor family 51 subfamily G member 2 |
| Synonyms |
Olfr577, GA_x6K02T2PBJ9-5685322-5684384, MOR7-2 |
| MMRRC Submission |
044525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R6375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102622259-102623197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102622960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 80
(T80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051505]
[ENSMUST00000185326]
[ENSMUST00000214080]
[ENSMUST00000215237]
|
| AlphaFold |
Q8VH11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051505
AA Change: T80A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059586
Gene: ENSMUSG00000043354
AA Change: T80A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
312 |
3.3e-140 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
310 |
1.2e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
295 |
7.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185326
|
| SMART Domains |
Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
300 |
9.7e-12 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
1.8e-29 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.6e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214080
AA Change: T80A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215237
AA Change: T80A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
| Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,084 (GRCm39) |
N526D |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
| Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,334,050 (GRCm39) |
Y207N |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
| Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
| Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
| Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
| Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
| Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
| Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
| Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
| Qrich2 |
A |
G |
11: 116,349,054 (GRCm39) |
|
probably benign |
Het |
| Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
| Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
| Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
| Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
| Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,037 (GRCm39) |
V704E |
probably damaging |
Het |
| Tmem39a |
A |
G |
16: 38,405,599 (GRCm39) |
T59A |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
probably damaging |
Het |
|
| Other mutations in Or51g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02246:Or51g2
|
APN |
7 |
102,622,951 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03111:Or51g2
|
APN |
7 |
102,622,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Or51g2
|
UTSW |
7 |
102,623,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Or51g2
|
UTSW |
7 |
102,622,263 (GRCm39) |
missense |
probably benign |
|
|
R3005:Or51g2
|
UTSW |
7 |
102,622,465 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4457:Or51g2
|
UTSW |
7 |
102,622,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Or51g2
|
UTSW |
7 |
102,623,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4808:Or51g2
|
UTSW |
7 |
102,623,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4891:Or51g2
|
UTSW |
7 |
102,622,759 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4917:Or51g2
|
UTSW |
7 |
102,622,614 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4918:Or51g2
|
UTSW |
7 |
102,622,614 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5328:Or51g2
|
UTSW |
7 |
102,623,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6683:Or51g2
|
UTSW |
7 |
102,622,920 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6958:Or51g2
|
UTSW |
7 |
102,623,091 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7022:Or51g2
|
UTSW |
7 |
102,623,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7429:Or51g2
|
UTSW |
7 |
102,622,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Or51g2
|
UTSW |
7 |
102,622,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Or51g2
|
UTSW |
7 |
102,623,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Or51g2
|
UTSW |
7 |
102,622,317 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8169:Or51g2
|
UTSW |
7 |
102,622,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8544:Or51g2
|
UTSW |
7 |
102,622,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Or51g2
|
UTSW |
7 |
102,622,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Or51g2
|
UTSW |
7 |
102,623,112 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Or51g2
|
UTSW |
7 |
102,622,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Or51g2
|
UTSW |
7 |
102,622,516 (GRCm39) |
missense |
not run |
|
|
Z1177:Or51g2
|
UTSW |
7 |
102,622,516 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATTCTGACAATCACTGTGTGGG -3'
(R):5'- CCTTCTTGCTGAGTGGCATC -3'
Sequencing Primer
(F):5'- ACAATCACTGTGTGGGTGAGG -3'
(R):5'- TGCTGAGTGGCATCCCTGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation