Incidental Mutation 'R9591:Or51b6'
| ID |
723001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51b6
|
| Ensembl Gene |
ENSMUSG00000110259 |
| Gene Name |
olfactory receptor family 51 subfamily B member 6 |
| Synonyms |
MOR1-2, Olfr65, 5'[b]3, GA_x6K02T2PBJ9-6634906-6633983 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R9591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103555549-103556654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103556470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 272
(I272F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106864]
[ENSMUST00000209528]
[ENSMUST00000214300]
|
| AlphaFold |
A0A1B0GSF4 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: I272F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
310 |
2.1e-113 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
300 |
5.6e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
5.9e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209528
AA Change: I275F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,488 (GRCm39) |
I486N |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,954,984 (GRCm39) |
Y335C |
probably benign |
Het |
| Adam24 |
C |
A |
8: 41,132,698 (GRCm39) |
D55E |
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,320,250 (GRCm39) |
*164Q |
probably null |
Het |
| Arhgap25 |
T |
C |
6: 87,440,102 (GRCm39) |
N515S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Btbd9 |
T |
C |
17: 30,736,222 (GRCm39) |
D297G |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,957,929 (GRCm39) |
M584K |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Ccdc116 |
T |
C |
16: 16,960,598 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,011,296 (GRCm39) |
V296A |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,114,357 (GRCm39) |
T133A |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,961,073 (GRCm39) |
H78N |
probably damaging |
Het |
| Dhrs11 |
T |
G |
11: 84,719,584 (GRCm39) |
N47T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,288,336 (GRCm39) |
S396G |
probably benign |
Het |
| Gm3667 |
T |
C |
14: 18,270,388 (GRCm39) |
Y139C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,019,640 (GRCm39) |
N2137S |
probably damaging |
Het |
| Iapp |
T |
A |
6: 142,249,063 (GRCm39) |
C39S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,969 (GRCm39) |
E749G |
probably benign |
Het |
| Lpcat1 |
T |
G |
13: 73,659,471 (GRCm39) |
V411G |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,454,795 (GRCm39) |
E1398D |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,516 (GRCm39) |
T1821A |
unknown |
Het |
| Neu1 |
T |
C |
17: 35,150,474 (GRCm39) |
L31P |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,900,581 (GRCm39) |
T94A |
possibly damaging |
Het |
| Nlrc5 |
T |
G |
8: 95,249,309 (GRCm39) |
S1752R |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,378,926 (GRCm39) |
E242V |
probably damaging |
Het |
| Peak1 |
C |
A |
9: 56,166,834 (GRCm39) |
V365F |
possibly damaging |
Het |
| Rgl2 |
C |
T |
17: 34,151,451 (GRCm39) |
T165I |
possibly damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,847,309 (GRCm39) |
L632P |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,102 (GRCm39) |
T315M |
|
Het |
| Sipa1l2 |
A |
T |
8: 126,219,112 (GRCm39) |
M75K |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sprr2a3 |
T |
A |
3: 92,195,961 (GRCm39) |
C23S |
unknown |
Het |
| Tbck |
T |
A |
3: 132,400,195 (GRCm39) |
L82Q |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,897 (GRCm39) |
V277I |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,031,921 (GRCm39) |
E565V |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,315,737 (GRCm39) |
D230E |
|
Het |
|
| Other mutations in Or51b6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01079:Or51b6
|
APN |
7 |
103,555,669 (GRCm39) |
missense |
probably benign |
|
|
IGL02830:Or51b6
|
APN |
7 |
103,555,651 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03238:Or51b6
|
APN |
7 |
103,555,717 (GRCm39) |
missense |
probably benign |
|
|
R0674:Or51b6
|
UTSW |
7 |
103,556,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1711:Or51b6
|
UTSW |
7 |
103,555,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Or51b6
|
UTSW |
7 |
103,556,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2363:Or51b6
|
UTSW |
7 |
103,556,267 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2968:Or51b6
|
UTSW |
7 |
103,556,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2970:Or51b6
|
UTSW |
7 |
103,556,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3746:Or51b6
|
UTSW |
7 |
103,556,267 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4928:Or51b6
|
UTSW |
7 |
103,555,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Or51b6
|
UTSW |
7 |
103,556,406 (GRCm39) |
nonsense |
probably null |
|
|
R5635:Or51b6
|
UTSW |
7 |
103,555,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5881:Or51b6
|
UTSW |
7 |
103,555,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5963:Or51b6
|
UTSW |
7 |
103,556,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5969:Or51b6
|
UTSW |
7 |
103,556,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6859:Or51b6
|
UTSW |
7 |
103,555,908 (GRCm39) |
nonsense |
probably null |
|
|
R7857:Or51b6
|
UTSW |
7 |
103,555,817 (GRCm39) |
missense |
|
|
|
R8065:Or51b6
|
UTSW |
7 |
103,555,610 (GRCm39) |
start gained |
probably benign |
|
|
R8067:Or51b6
|
UTSW |
7 |
103,555,610 (GRCm39) |
start gained |
probably benign |
|
|
R8381:Or51b6
|
UTSW |
7 |
103,556,146 (GRCm39) |
missense |
|
|
|
R8501:Or51b6
|
UTSW |
7 |
103,555,818 (GRCm39) |
missense |
|
|
|
R8737:Or51b6
|
UTSW |
7 |
103,555,913 (GRCm39) |
missense |
|
|
|
R8796:Or51b6
|
UTSW |
7 |
103,556,201 (GRCm39) |
missense |
|
|
|
R9007:Or51b6
|
UTSW |
7 |
103,556,165 (GRCm39) |
missense |
|
|
|
R9455:Or51b6
|
UTSW |
7 |
103,556,200 (GRCm39) |
missense |
|
|
|
X0065:Or51b6
|
UTSW |
7 |
103,556,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGACATCACATTCAATCGTC -3'
(R):5'- GGGTACTTCTTCCTGCAACAC -3'
Sequencing Primer
(F):5'- AATGGTCTTGCTAGATTTCCTGATC -3'
(R):5'- CACTGTCACTATATTTACATTCCAGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation