Mutagenetix > Incidental Mutation

Incidental Mutation 'R7066:Or4f60'

548555

Institutional Source

Beutler Lab

Gene Symbol

Or4f60

Ensembl Gene

ENSMUSG00000074946

Gene Name

olfactory receptor family 4 subfamily F member 60

Synonyms

GA_x6K02T2Q125-73119859-73118924, MOR245-23, Olfr1313

MMRRC Submission

045162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111901991-111902928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111902541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 129 (P129L)

Ref Sequence

ENSEMBL: ENSMUSP00000148886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099599] [ENSMUST00000213577] [ENSMUST00000216071]

AlphaFold

Q7TQW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099599
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097194
Gene: ENSMUSG00000074946
AA Change: P129L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	2.2e-41	PFAM
Pfam:7tm_1	41	286	2.8e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213577
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216071
AA Change: P129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,904,514 (GRCm39)	V175A	probably damaging	Het
Adamts5	A	T	16: 85,659,652 (GRCm39)	V880E	probably damaging	Het
Adgrf1	T	A	17: 43,621,151 (GRCm39)	F463I	probably benign	Het
Ano1	T	A	7: 144,190,823 (GRCm39)	E249D	probably benign	Het
Aoc1	A	G	6: 48,885,553 (GRCm39)	D686G	probably damaging	Het
Cacna1d	A	T	14: 30,074,935 (GRCm39)		probably benign	Het
Cdc42ep4	A	G	11: 113,620,044 (GRCm39)	S116P	probably damaging	Het
Ces2a	T	C	8: 105,466,880 (GRCm39)	V463A	probably damaging	Het
Depdc5	A	G	5: 33,059,192 (GRCm39)	D297G	probably benign	Het
Fsip2	T	A	2: 82,821,235 (GRCm39)	V5656E	possibly damaging	Het
Gbp5	A	G	3: 142,213,490 (GRCm39)	T469A	probably benign	Het
Gm21663	C	G	5: 26,146,259 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,027 (GRCm39)	V456A	probably benign	Het
Lpcat1	A	C	13: 73,659,500 (GRCm39)	I373L	probably benign	Het
Morc2b	C	T	17: 33,355,610 (GRCm39)	V721I	probably benign	Het
Mrgprb1	C	T	7: 48,097,424 (GRCm39)	V163M	probably benign	Het
Mtfr2	A	G	10: 20,229,972 (GRCm39)	I142V	possibly damaging	Het
Muc16	A	T	9: 18,569,317 (GRCm39)	S1067R	unknown	Het
Myh14	T	C	7: 44,280,179 (GRCm39)	S892G	possibly damaging	Het
Mylk2	C	T	2: 152,753,588 (GRCm39)		probably null	Het
Mzf1	A	T	7: 12,777,490 (GRCm39)	V638E	possibly damaging	Het
Ncoa1	C	T	12: 4,372,934 (GRCm39)	V156I	possibly damaging	Het
Nf1	A	G	11: 79,447,546 (GRCm39)	E2450G	probably damaging	Het
Or14j3	T	A	17: 37,901,034 (GRCm39)	D70V	probably damaging	Het
Or1e29	A	G	11: 73,668,018 (GRCm39)	I45T	probably damaging	Het
Or4a72	T	C	2: 89,406,047 (GRCm39)	T8A	probably damaging	Het
Or5t7	T	A	2: 86,507,570 (GRCm39)	T36S	possibly damaging	Het
Or6c88	T	C	10: 129,407,373 (GRCm39)	L283S	probably damaging	Het
Or8g54	A	G	9: 39,707,420 (GRCm39)	I250V	probably benign	Het
Or8k17	T	C	2: 86,067,002 (GRCm39)	D52G	probably damaging	Het
P4htm	T	G	9: 108,474,162 (GRCm39)	K125N	probably damaging	Het
Patj	A	G	4: 98,301,434 (GRCm39)	T240A	probably benign	Het
Pcolce2	T	C	9: 95,563,674 (GRCm39)	V220A	probably benign	Het
Pcyox1	A	T	6: 86,371,478 (GRCm39)	I136N	probably damaging	Het
Pde4b	A	G	4: 102,460,003 (GRCm39)	S395G	probably benign	Het
Peg3	C	A	7: 6,711,856 (GRCm39)	R1122L	probably damaging	Het
Plekhm1	A	G	11: 103,261,814 (GRCm39)	V922A	possibly damaging	Het
Rad51c	T	C	11: 87,293,502 (GRCm39)	N118S	possibly damaging	Het
Rb1cc1	T	A	1: 6,320,229 (GRCm39)	V1216D	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rlf	T	C	4: 121,005,984 (GRCm39)	M999V	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Sema5b	A	C	16: 35,471,682 (GRCm39)	D425A	probably benign	Het
Siglecg	A	G	7: 43,061,166 (GRCm39)	E413G	probably benign	Het
Tcaf1	A	T	6: 42,656,111 (GRCm39)	N288K	probably damaging	Het
Tdp1	A	G	12: 99,860,991 (GRCm39)	D210G	probably benign	Het
Umps	A	T	16: 33,782,103 (GRCm39)	L273*	probably null	Het
Vcan	A	T	13: 89,853,805 (GRCm39)	V385D	probably damaging	Het
Wdr59	T	C	8: 112,192,477 (GRCm39)	T676A	probably benign	Het
Zdbf2	A	G	1: 63,346,718 (GRCm39)	H1699R	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Or4f60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Or4f60	APN	2	111,902,100 (GRCm39)	missense	probably damaging	0.98
IGL01790:Or4f60	APN	2	111,902,266 (GRCm39)	missense	probably benign	0.00
IGL02054:Or4f60	APN	2	111,902,269 (GRCm39)	missense	probably benign	0.43
IGL03387:Or4f60	APN	2	111,902,007 (GRCm39)	missense	probably benign	0.00
R1891:Or4f60	UTSW	2	111,902,739 (GRCm39)	missense	probably damaging	1.00
R2509:Or4f60	UTSW	2	111,902,837 (GRCm39)	missense	probably benign
R2520:Or4f60	UTSW	2	111,902,013 (GRCm39)	missense	probably benign	0.00
R3084:Or4f60	UTSW	2	111,902,320 (GRCm39)	nonsense	probably null
R3085:Or4f60	UTSW	2	111,902,320 (GRCm39)	nonsense	probably null
R3086:Or4f60	UTSW	2	111,902,320 (GRCm39)	nonsense	probably null
R4357:Or4f60	UTSW	2	111,902,583 (GRCm39)	missense	probably damaging	1.00
R4700:Or4f60	UTSW	2	111,902,097 (GRCm39)	missense	possibly damaging	0.54
R5366:Or4f60	UTSW	2	111,902,823 (GRCm39)	missense	possibly damaging	0.91
R5372:Or4f60	UTSW	2	111,902,454 (GRCm39)	missense	probably benign	0.03
R5643:Or4f60	UTSW	2	111,902,013 (GRCm39)	missense	probably benign	0.00
R5644:Or4f60	UTSW	2	111,902,013 (GRCm39)	missense	probably benign	0.00
R5681:Or4f60	UTSW	2	111,902,722 (GRCm39)	missense	probably benign	0.38
R6004:Or4f60	UTSW	2	111,902,371 (GRCm39)	missense	probably damaging	1.00
R6609:Or4f60	UTSW	2	111,902,509 (GRCm39)	missense	probably benign	0.01
R7056:Or4f60	UTSW	2	111,902,662 (GRCm39)	missense	probably benign
R7417:Or4f60	UTSW	2	111,902,445 (GRCm39)	missense	probably benign	0.01
R8942:Or4f60	UTSW	2	111,902,802 (GRCm39)	missense	probably damaging	1.00
R9261:Or4f60	UTSW	2	111,902,718 (GRCm39)	missense	probably damaging	1.00
R9423:Or4f60	UTSW	2	111,902,808 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGTCCATGCAAGCAAGTTTG -3'
(R):5'- AGCATGATGGGAAACTGTCTC -3'

Sequencing Primer
(F):5'- CCATGCAAGCAAGTTTGATGAATTG -3'
(R):5'- AACTGTCTCATAATTTTCACTGTGGC -3'

Posted On

2019-05-13