Mutagenetix > Incidental Mutation

Incidental Mutation 'R5335:Or51f1d'

423472

Institutional Source

Beutler Lab

Gene Symbol

Or51f1d

Ensembl Gene

ENSMUSG00000073960

Gene Name

olfactory receptor family 51 subfamily F member 1D

Synonyms

Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6

MMRRC Submission

042916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102700507-102701466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102700742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 79 (D79A)

Ref Sequence

ENSEMBL: ENSMUSP00000095812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098211]

AlphaFold

Q8VG25

Predicted Effect

probably damaging
Transcript: ENSMUST00000098211
AA Change: D79A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: D79A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	9.1e-107	PFAM
Pfam:7TM_GPCR_Srsx	45	316	1.4e-5	PFAM
Pfam:7tm_1	50	301	9.6e-20	PFAM

Meta Mutation Damage Score

0.3282

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (62/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	A	G	19: 4,548,292 (GRCm39)	W86R	probably damaging	Het
Ankrd6	T	C	4: 32,818,651 (GRCm39)	E225G	probably damaging	Het
Atxn10	A	G	15: 85,220,785 (GRCm39)		probably null	Het
Bcas2	A	G	3: 103,082,951 (GRCm39)	I146V	probably damaging	Het
C2cd6	T	A	1: 59,043,393 (GRCm39)		noncoding transcript	Het
Cachd1	G	A	4: 100,825,282 (GRCm39)	V579I	possibly damaging	Het
Col11a1	A	G	3: 113,888,889 (GRCm39)	T311A	unknown	Het
Cyp2c50	A	T	19: 40,079,060 (GRCm39)	L134F	probably benign	Het
Cyp2j11	T	C	4: 96,195,589 (GRCm39)	H369R	probably damaging	Het
Dis3	A	G	14: 99,335,089 (GRCm39)	V171A	possibly damaging	Het
Dnah12	A	G	14: 26,601,695 (GRCm39)	N3718D	probably damaging	Het
Dnah17	T	C	11: 118,003,340 (GRCm39)	I541V	probably damaging	Het
Eif3i	T	C	4: 129,488,979 (GRCm39)	D86G	probably benign	Het
Epc1	C	T	18: 6,490,689 (GRCm39)		probably benign	Het
Epc2	A	G	2: 49,403,242 (GRCm39)	N110S	probably benign	Het
Epha8	A	T	4: 136,659,246 (GRCm39)	L831Q	probably damaging	Het
Esd	G	T	14: 74,979,553 (GRCm39)	R119I	probably damaging	Het
F2	T	C	2: 91,465,277 (GRCm39)	K96E	possibly damaging	Het
Fcgbp	T	C	7: 27,789,159 (GRCm39)	V575A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gemin6	T	C	17: 80,533,184 (GRCm39)	V39A	probably damaging	Het
Glmp	G	T	3: 88,233,962 (GRCm39)		probably benign	Het
Gm10306	C	A	4: 94,445,044 (GRCm39)		probably benign	Het
Gm4846	A	T	1: 166,325,022 (GRCm39)	L23*	probably null	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Ifi203	T	C	1: 173,754,485 (GRCm39)	T749A	possibly damaging	Het
Kcnip2	C	A	19: 45,782,685 (GRCm39)	A133S	probably benign	Het
Limch1	A	T	5: 67,039,300 (GRCm39)	I76F	probably damaging	Het
Mcph1	T	A	8: 18,739,077 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtcl3	A	T	10: 29,023,102 (GRCm39)	I150L	probably benign	Het
Myh7	A	G	14: 55,224,020 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,294,566 (GRCm39)	Y16N	probably benign	Het
Opcml	A	G	9: 28,586,621 (GRCm39)	D113G	possibly damaging	Het
Or1j17	A	T	2: 36,578,106 (GRCm39)	I31F	probably benign	Het
Or1x2	A	C	11: 50,918,161 (GRCm39)	N111H	probably benign	Het
Or2ag18	A	C	7: 106,404,941 (GRCm39)	S243A	probably damaging	Het
Or2b6	A	C	13: 21,822,949 (GRCm39)	V248G	probably damaging	Het
Or52s19	A	C	7: 103,007,729 (GRCm39)	L224R	probably damaging	Het
Or5j1	T	G	2: 86,879,509 (GRCm39)	K24Q	probably damaging	Het
Pcdhb1	G	T	18: 37,400,308 (GRCm39)	C753F	probably benign	Het
Phip	T	C	9: 82,782,809 (GRCm39)	S879G	possibly damaging	Het
Pi4k2b	A	G	5: 52,899,098 (GRCm39)	D13G	possibly damaging	Het
Ptpn18	A	T	1: 34,502,259 (GRCm39)	I68F	probably damaging	Het
Rnf168	C	T	16: 32,117,402 (GRCm39)	T321I	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Srgap1	C	T	10: 121,621,282 (GRCm39)		probably benign	Het
Sry	A	T	Y: 2,663,647 (GRCm39)	H4Q	probably benign	Het
Taf2	G	A	15: 54,909,136 (GRCm39)	A703V	probably benign	Het
Taf5l	A	G	8: 124,730,390 (GRCm39)	F65L	probably damaging	Het
Tcp10b	T	C	17: 13,281,954 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,814 (GRCm39)	I273N	probably damaging	Het
Tspan4	A	G	7: 141,069,528 (GRCm39)	T43A	probably damaging	Het
Ube2r2	T	C	4: 41,190,846 (GRCm39)		probably benign	Het
Urgcp	T	C	11: 5,667,754 (GRCm39)	T195A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,361 (GRCm39)	I94T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,673 (GRCm39)	I677K	probably damaging	Het
Zfp853	T	A	5: 143,274,318 (GRCm39)	H434L	unknown	Het

Other mutations in Or51f1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Or51f1d	APN	7	102,700,582 (GRCm39)	missense	probably benign	0.02
IGL02200:Or51f1d	APN	7	102,701,000 (GRCm39)	missense	probably benign
IGL02412:Or51f1d	APN	7	102,701,359 (GRCm39)	missense	probably benign	0.01
IGL02452:Or51f1d	APN	7	102,701,138 (GRCm39)	missense	probably benign	0.00
IGL02859:Or51f1d	APN	7	102,701,345 (GRCm39)	missense	probably benign	0.00
IGL03078:Or51f1d	APN	7	102,701,036 (GRCm39)	missense	probably damaging	1.00
R0675:Or51f1d	UTSW	7	102,700,909 (GRCm39)	missense	probably benign	0.22
R1474:Or51f1d	UTSW	7	102,701,288 (GRCm39)	missense	probably damaging	1.00
R1531:Or51f1d	UTSW	7	102,700,795 (GRCm39)	missense	probably benign	0.00
R1535:Or51f1d	UTSW	7	102,700,576 (GRCm39)	missense	probably benign	0.14
R1777:Or51f1d	UTSW	7	102,700,583 (GRCm39)	missense	probably benign	0.41
R1883:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R1884:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R2265:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2267:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2269:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2299:Or51f1d	UTSW	7	102,700,789 (GRCm39)	missense	probably damaging	0.99
R3802:Or51f1d	UTSW	7	102,701,372 (GRCm39)	missense	probably benign	0.05
R4239:Or51f1d	UTSW	7	102,701,003 (GRCm39)	missense	probably benign	0.17
R4426:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00
R6048:Or51f1d	UTSW	7	102,700,526 (GRCm39)	missense	probably benign	0.00
R6270:Or51f1d	UTSW	7	102,700,538 (GRCm39)	missense	probably benign	0.27
R6837:Or51f1d	UTSW	7	102,700,929 (GRCm39)	nonsense	probably null
R7257:Or51f1d	UTSW	7	102,700,837 (GRCm39)	missense	probably benign	0.39
R8506:Or51f1d	UTSW	7	102,700,709 (GRCm39)	missense	probably damaging	1.00
R8947:Or51f1d	UTSW	7	102,701,315 (GRCm39)	missense	probably damaging	0.99
R9638:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACCTTCTTGTTGACTGGC -3'
(R):5'- GAGTGTGCATTATCACTAGGAAAC -3'

Sequencing Primer
(F):5'- GCATTCCTGGCCTAGAGTCTG -3'
(R):5'- TCTAAGAGGTTTGTAGATCGCTAC -3'

Posted On

2016-08-04