Mutagenetix > Incidental Mutation

Incidental Mutation 'R1852:Or6f2'

208214

Institutional Source

Beutler Lab

Gene Symbol

Or6f2

Ensembl Gene

ENSMUSG00000051051

Gene Name

olfactory receptor family 6 subfamily F member 2

Synonyms

Olfr523, GA_x6K02T2PBJ9-42327937-42328872, MOR104-4

MMRRC Submission

039876-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140173217-140178758 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140176561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 147 (L147*)

Ref Sequence

ENSEMBL: ENSMUSP00000149562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]

AlphaFold

Q8VFE7

Predicted Effect

probably null
Transcript: ENSMUST00000055890
AA Change: L153*

SMART Domains

Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: L153*

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:7tm_4	40	317	1.6e-50	PFAM
Pfam:7tm_1	50	299	1.6e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000209314
AA Change: L147*

Predicted Effect

probably null
Transcript: ENSMUST00000213953
AA Change: L147*

Predicted Effect

probably null
Transcript: ENSMUST00000214272
AA Change: L147*

Predicted Effect

probably null
Transcript: ENSMUST00000215785
AA Change: L147*

Predicted Effect

probably null
Transcript: ENSMUST00000216023
AA Change: L147*

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,512,702 (GRCm38)		probably null	Het
4930433I11Rik	T	A	7: 40,993,613 (GRCm38)	D326E	probably benign	Het
Abca8a	T	C	11: 110,069,386 (GRCm38)	D676G	probably damaging	Het
Abcb7	T	C	X: 104,305,399 (GRCm38)	M153V	probably benign	Het
Ablim3	G	A	18: 61,849,395 (GRCm38)	H160Y	probably benign	Het
Acsl6	T	C	11: 54,361,076 (GRCm38)	I683T	probably damaging	Het
Adgrg5	A	T	8: 94,937,800 (GRCm38)	Y345F	probably damaging	Het
Alg6	T	G	4: 99,746,362 (GRCm38)	F114V	probably benign	Het
Ank2	A	C	3: 126,997,851 (GRCm38)		probably null	Het
Ankrd24	A	T	10: 81,642,941 (GRCm38)		probably benign	Het
Ano8	T	C	8: 71,483,487 (GRCm38)	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,275,185 (GRCm38)	S957P	probably benign	Het
Bltp2	A	G	11: 78,268,473 (GRCm38)	D499G	probably damaging	Het
Bmpr1b	A	T	3: 141,857,402 (GRCm38)		probably null	Het
C3	A	G	17: 57,222,823 (GRCm38)	V2A	probably damaging	Het
Capn1	A	G	19: 6,009,103 (GRCm38)	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,921,673 (GRCm38)	E85G	probably damaging	Het
Chil3	C	T	3: 106,148,801 (GRCm38)		probably null	Het
Chl1	A	T	6: 103,699,159 (GRCm38)		probably null	Het
Chodl	C	T	16: 78,941,258 (GRCm38)	P38L	probably benign	Het
Clec4a2	G	T	6: 123,139,125 (GRCm38)	E124*	probably null	Het
Cmtr1	T	C	17: 29,702,255 (GRCm38)	V825A	probably benign	Het
Cnksr3	T	C	10: 7,120,539 (GRCm38)	I232V	probably benign	Het
Cntn1	C	T	15: 92,305,140 (GRCm38)	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278 (GRCm38)		probably null	Het
Col6a3	T	A	1: 90,807,534 (GRCm38)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 116,478,061 (GRCm38)	L223*	probably null	Het
Cul1	A	G	6: 47,520,830 (GRCm38)	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,159,279 (GRCm38)	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,617,367 (GRCm38)	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,653,865 (GRCm38)		probably benign	Het
Ddx49	T	C	8: 70,300,983 (GRCm38)	T79A	probably damaging	Het
Defb46	T	A	8: 19,239,975 (GRCm38)		probably null	Het
Dnah17	T	A	11: 118,121,916 (GRCm38)	I145F	probably damaging	Het
Dock8	A	T	19: 25,127,128 (GRCm38)	I725F	probably benign	Het
Dppa4	G	A	16: 48,287,884 (GRCm38)	A11T	probably damaging	Het
Enam	T	A	5: 88,504,465 (GRCm38)	S1278T	possibly damaging	Het
Fndc3a	A	G	14: 72,556,843 (GRCm38)	V829A	probably damaging	Het
Gatb	T	G	3: 85,618,877 (GRCm38)	L354R	probably damaging	Het
Gm10787	A	T	10: 77,021,877 (GRCm38)		noncoding transcript	Het
Gsap	T	A	5: 21,290,545 (GRCm38)		probably null	Het
Gtf2ird1	T	C	5: 134,382,580 (GRCm38)		probably null	Het
Has3	A	T	8: 106,874,079 (GRCm38)	I58F	probably damaging	Het
Haus5	A	T	7: 30,658,501 (GRCm38)		probably null	Het
Hip1r	T	C	5: 123,991,505 (GRCm38)	V169A	probably benign	Het
Hnf1a	T	A	5: 114,970,711 (GRCm38)	D45V	probably damaging	Het
Il20ra	T	A	10: 19,743,019 (GRCm38)	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,812,257 (GRCm38)	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,386,706 (GRCm38)	L763P	probably damaging	Het
Katnal2	C	A	18: 77,016,023 (GRCm38)	R104L	probably benign	Het
Kcng4	G	T	8: 119,626,208 (GRCm38)	P321Q	probably benign	Het
Larp4b	T	C	13: 9,137,303 (GRCm38)		probably null	Het
Lars1	T	C	18: 42,212,608 (GRCm38)	N1001S	probably benign	Het
Lhcgr	T	A	17: 88,765,176 (GRCm38)	I148F	probably damaging	Het
Lsm10	T	A	4: 126,097,963 (GRCm38)	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,372,180 (GRCm38)		probably null	Het
Mipep	T	A	14: 60,843,240 (GRCm38)	C560*	probably null	Het
Mme	G	A	3: 63,328,046 (GRCm38)	D172N	probably benign	Het
Mme	A	G	3: 63,327,983 (GRCm38)	S97G	probably benign	Het
Mtrex	A	T	13: 112,872,927 (GRCm38)	H979Q	probably benign	Het
Mx1	A	T	16: 97,448,203 (GRCm38)	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,851,661 (GRCm38)	M208T	probably benign	Het
Neb	T	C	2: 52,228,542 (GRCm38)	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,423,978 (GRCm38)		probably null	Het
Neto1	T	C	18: 86,395,884 (GRCm38)	M1T	probably null	Het
Nom1	T	C	5: 29,446,878 (GRCm38)	F738S	possibly damaging	Het
Or10v1	C	A	19: 11,896,885 (GRCm38)	P288H	probably damaging	Het
Or4f61	C	A	2: 112,091,847 (GRCm38)	V285L	probably benign	Het
Or51h5	C	T	7: 102,928,441 (GRCm38)	S271L	probably damaging	Het
Or5b123	C	T	19: 13,619,603 (GRCm38)	S147F	probably damaging	Het
Or5w14	T	C	2: 87,710,973 (GRCm38)		probably null	Het
Or6c203	T	C	10: 129,174,328 (GRCm38)	K231R	probably benign	Het
Or9m1b	T	G	2: 88,006,521 (GRCm38)	I86L	probably damaging	Het
Pak1ip1	A	G	13: 41,011,232 (GRCm38)	T264A	possibly damaging	Het
Palb2	G	T	7: 122,114,314 (GRCm38)	D915E	possibly damaging	Het
Pank4	T	C	4: 154,976,359 (GRCm38)	L491P	probably damaging	Het
Paqr7	T	C	4: 134,507,669 (GRCm38)	V279A	probably benign	Het
Pcif1	G	A	2: 164,888,466 (GRCm38)	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,979,172 (GRCm38)	N185I	probably benign	Het
Plcd4	T	C	1: 74,549,361 (GRCm38)	V123A	possibly damaging	Het
Pramel26	T	C	4: 143,812,826 (GRCm38)	I32M	probably benign	Het
Prune2	A	G	19: 17,199,139 (GRCm38)	I154V	probably damaging	Het
Rac3	T	G	11: 120,723,494 (GRCm38)	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,642,811 (GRCm38)	D362E	probably benign	Het
Rbl1	A	G	2: 157,174,903 (GRCm38)	I592T	probably benign	Het
Rbl2	A	C	8: 91,095,563 (GRCm38)	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,146,675 (GRCm38)	K416E	probably benign	Het
Rorb	A	T	19: 18,962,083 (GRCm38)	L234H	probably damaging	Het
Rpp40	T	G	13: 35,896,914 (GRCm38)	D279A	probably benign	Het
Siglec1	C	A	2: 131,081,500 (GRCm38)	V442L	probably damaging	Het
Sik3	C	G	9: 46,221,089 (GRCm38)	H1276Q	probably benign	Het
Slc25a34	G	A	4: 141,622,268 (GRCm38)	T192I	probably benign	Het
Sp140l1	G	A	1: 85,085,131 (GRCm38)		probably benign	Het
Sptbn5	T	C	2: 120,071,644 (GRCm38)	I126M	possibly damaging	Het
Strada	A	G	11: 106,171,221 (GRCm38)	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,812,298 (GRCm38)	V420F	possibly damaging	Het
Tgm1	T	C	14: 55,704,941 (GRCm38)	Y651C	probably damaging	Het
Tmem200c	T	A	17: 68,840,617 (GRCm38)	V65E	probably damaging	Het
Tmem74	A	T	15: 43,867,163 (GRCm38)	D161E	probably benign	Het
Trgc3	A	T	13: 19,261,091 (GRCm38)	M70L	probably damaging	Het
Vcan	T	G	13: 89,705,392 (GRCm38)	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,063,174 (GRCm38)	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,259,394 (GRCm38)	I772S	probably damaging	Het
Wdfy3	A	G	5: 101,915,376 (GRCm38)	V1342A	probably benign	Het
Zfp507	T	C	7: 35,787,751 (GRCm38)	H764R	probably damaging	Het
Znrf3	A	G	11: 5,287,455 (GRCm38)	I218T	possibly damaging	Het

Other mutations in Or6f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or6f2	APN	7	140,176,615 (GRCm38)	missense	probably damaging	1.00
IGL01759:Or6f2	APN	7	140,176,534 (GRCm38)	missense	probably benign	0.00
D3080:Or6f2	UTSW	7	140,176,362 (GRCm38)	missense	possibly damaging	0.94
R0503:Or6f2	UTSW	7	140,176,441 (GRCm38)	missense	possibly damaging	0.95
R1644:Or6f2	UTSW	7	140,176,648 (GRCm38)	missense	probably benign	0.12
R1760:Or6f2	UTSW	7	140,176,275 (GRCm38)	missense	probably damaging	1.00
R1960:Or6f2	UTSW	7	140,176,683 (GRCm38)	missense	probably benign	0.37
R2363:Or6f2	UTSW	7	140,176,965 (GRCm38)	missense	probably damaging	1.00
R3700:Or6f2	UTSW	7	140,176,214 (GRCm38)	missense	possibly damaging	0.54
R4626:Or6f2	UTSW	7	140,176,446 (GRCm38)	missense	probably damaging	1.00
R4678:Or6f2	UTSW	7	140,176,228 (GRCm38)	missense	probably benign	0.21
R4779:Or6f2	UTSW	7	140,176,450 (GRCm38)	missense	probably damaging	1.00
R4999:Or6f2	UTSW	7	140,177,020 (GRCm38)	missense	probably damaging	1.00
R5663:Or6f2	UTSW	7	140,176,321 (GRCm38)	missense	probably damaging	1.00
R7352:Or6f2	UTSW	7	140,176,525 (GRCm38)	missense	probably damaging	1.00
R8525:Or6f2	UTSW	7	140,176,342 (GRCm38)	missense	probably damaging	0.99
R8976:Or6f2	UTSW	7	140,176,972 (GRCm38)	missense	probably damaging	0.96
R9034:Or6f2	UTSW	7	140,176,971 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ATCTGGTTCACCACAGCCTG -3'
(R):5'- TACCACAGGAGCCCAGAATG -3'

Sequencing Primer
(F):5'- AAGACCCTGGCCACGTTTG -3'
(R):5'- CAGGAGCCCAGAATGACACAG -3'

Posted On

2014-06-23