Mutagenetix > Incidental Mutation

Incidental Mutation 'R0675:Or51f1d'

61610

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

038860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0675 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

102700507-102701466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102700909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 135 (I135V)

Ref Sequence

ENSEMBL: ENSMUSP00000095812 (fasta)

Gene Model

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

AlphaFold

Q8VG25

Predicted Effect

probably benign
Transcript: ENSMUST00000098211
AA Change: I135V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: I135V

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

0.1579

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (88/91)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,024,124 (GRCm39)		probably benign	Het
Aire	T	C	10: 77,870,327 (GRCm39)		probably benign	Het
Akap12	T	C	10: 4,303,315 (GRCm39)	S42P	probably benign	Het
Amigo1	T	C	3: 108,098,985 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Ank1	T	A	8: 23,600,400 (GRCm39)		probably benign	Het
Ano5	A	T	7: 51,224,558 (GRCm39)	T472S	probably damaging	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Cd200	T	C	16: 45,217,473 (GRCm39)	I73V	probably benign	Het
Cd47	T	C	16: 49,727,162 (GRCm39)	I318T	possibly damaging	Het
Cep290	A	G	10: 100,404,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,835,499 (GRCm39)	S66P	possibly damaging	Het
Cfap46	C	T	7: 139,255,950 (GRCm39)	C300Y	probably damaging	Het
Chd1	T	A	17: 15,978,523 (GRCm39)		probably benign	Het
Chd5	C	A	4: 152,470,407 (GRCm39)	T1913K	probably benign	Het
Cimip3	T	C	17: 47,724,701 (GRCm39)	E140G	probably benign	Het
Clec4b1	A	G	6: 123,048,405 (GRCm39)	Y180C	probably damaging	Het
Cntnap5c	A	T	17: 58,341,990 (GRCm39)	D227V	probably damaging	Het
Col19a1	C	G	1: 24,614,536 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,208,145 (GRCm39)	M1270K	probably benign	Het
Cyp2c66	T	A	19: 39,175,060 (GRCm39)	F487I	possibly damaging	Het
Dpp8	T	C	9: 64,973,784 (GRCm39)		probably benign	Het
Duoxa1	A	T	2: 122,136,861 (GRCm39)		probably benign	Het
Edil3	A	G	13: 89,325,399 (GRCm39)	K263E	probably damaging	Het
Fat2	A	G	11: 55,200,035 (GRCm39)	L1013P	probably damaging	Het
Fras1	T	C	5: 96,815,246 (GRCm39)		probably benign	Het
Gab1	A	G	8: 81,496,297 (GRCm39)	S668P	probably damaging	Het
Galnt14	T	C	17: 73,852,030 (GRCm39)	T130A	probably damaging	Het
Gm10192	G	A	4: 97,071,109 (GRCm39)	H99Y	unknown	Het
Gm5592	A	G	7: 40,938,811 (GRCm39)	T698A	possibly damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gsdma3	A	G	11: 98,522,017 (GRCm39)	K149R	probably benign	Het
Igkv4-71	A	G	6: 69,220,411 (GRCm39)	S29P	probably damaging	Het
Igsf10	C	T	3: 59,236,015 (GRCm39)	V1389I	probably benign	Het
Ik	T	C	18: 36,880,386 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,962 (GRCm39)	P1203S	probably damaging	Het
Iqsec2	G	A	X: 150,987,120 (GRCm39)	E398K	possibly damaging	Het
Jmjd6	A	G	11: 116,731,353 (GRCm39)	V232A	probably damaging	Het
Klhdc9	G	A	1: 171,187,895 (GRCm39)	T112M	possibly damaging	Het
Marcks	A	G	10: 37,017,181 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,732,918 (GRCm39)	T829S	probably damaging	Het
Mroh2a	C	A	1: 88,156,102 (GRCm39)	A78E	probably damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Mtmr14	A	T	6: 113,247,608 (GRCm39)	H518L	probably damaging	Het
Myo5c	T	C	9: 75,185,571 (GRCm39)	M978T	probably benign	Het
Nlrc3	T	C	16: 3,766,775 (GRCm39)	I1015V	probably benign	Het
Nlrp5	C	A	7: 23,116,842 (GRCm39)	Q189K	possibly damaging	Het
Or1e26	A	C	11: 73,480,078 (GRCm39)	L162R	probably damaging	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or8k35	T	C	2: 86,424,423 (GRCm39)	I250V	probably benign	Het
Otof	T	A	5: 30,539,705 (GRCm39)	Y1051F	probably benign	Het
Pcdhb14	C	A	18: 37,581,392 (GRCm39)	T166K	possibly damaging	Het
Pla2g4e	A	G	2: 120,030,679 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,489,471 (GRCm39)	E20G	probably damaging	Het
Psmd1	A	G	1: 86,009,761 (GRCm39)	D295G	probably benign	Het
Ptpn21	C	A	12: 98,654,475 (GRCm39)	A831S	probably benign	Het
Pwwp3a	T	A	10: 80,065,914 (GRCm39)	V56E	probably damaging	Het
Rd3l	T	C	12: 111,946,596 (GRCm39)	D60G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,332,660 (GRCm39)	D2624G	probably benign	Het
Sec31a	T	C	5: 100,541,066 (GRCm39)	D347G	probably damaging	Het
Sema4g	G	A	19: 44,986,026 (GRCm39)	R289H	probably damaging	Het
Sema5b	C	T	16: 35,480,703 (GRCm39)	T761I	probably benign	Het
Septin1	A	T	7: 126,816,171 (GRCm39)	F86L	probably damaging	Het
Shank3	T	C	15: 89,415,591 (GRCm39)	V627A	possibly damaging	Het
Slc25a46	C	A	18: 31,742,641 (GRCm39)	G75V	probably benign	Het
Slc45a2	T	A	15: 11,025,864 (GRCm39)	Y405N	probably damaging	Het
Spidr	T	C	16: 15,855,498 (GRCm39)	E339G	probably damaging	Het
Sptbn1	A	T	11: 30,067,903 (GRCm39)	H1770Q	probably damaging	Het
Srgap1	T	C	10: 121,628,140 (GRCm39)	Y944C	probably damaging	Het
Supt20	C	T	3: 54,614,390 (GRCm39)	T169I	probably damaging	Het
Tie1	G	A	4: 118,336,966 (GRCm39)	Q587*	probably null	Het
Tmem214	A	G	5: 31,029,169 (GRCm39)	T203A	possibly damaging	Het
Tmprss15	C	A	16: 78,782,838 (GRCm39)	S742I	probably damaging	Het
Wdr87-ps	T	C	7: 29,231,942 (GRCm39)		noncoding transcript	Het
Zfhx2	A	G	14: 55,300,620 (GRCm39)	V2377A	probably damaging	Het
Zfp763	G	A	17: 33,238,774 (GRCm39)	H124Y	possibly damaging	Het
Zfp846	T	C	9: 20,504,853 (GRCm39)	S238P	probably benign	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
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
R5335:Or51f1d	UTSW	7	102,700,742 (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'- TCATCATTGTGACCCAGCATAGCC -3'
(R):5'- GCCCGAGTGTCTGAACATGCTAAC -3'

Sequencing Primer
(F):5'- GCCTGCATGAACCTATGTACTATTTC -3'
(R):5'- GAGTGTCTGAACATGCTAACTTAATC -3'

Posted On

2013-07-30