Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Or4f60'

547901

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

045153-MU

Accession Numbers

Essential gene?

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

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111901991-111902928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111902662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 89 (N89D)

Ref Sequence

ENSEMBL: ENSMUSP00000148886 (fasta)

Gene Model

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

AlphaFold

Q7TQW8

Predicted Effect

probably benign
Transcript: ENSMUST00000099599
AA Change: N89D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097194
Gene: ENSMUSG00000074946
AA Change: N89D

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 benign
Transcript: ENSMUST00000213577
AA Change: N89D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216071
AA Change: N89D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Chrna5	C	T	9: 54,888,985 (GRCm39)		probably benign	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,682,120 (GRCm39)	E362G	probably benign	Het
Eed	A	T	7: 89,619,564 (GRCm39)	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,450 (GRCm39)	S472G	probably benign	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr70	T	A	15: 7,913,877 (GRCm39)	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	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
R7066:Or4f60	UTSW	2	111,902,541 (GRCm39)	missense	probably damaging	1.00
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'- GTCCAATAGCTGACCACAGAGAG -3'
(R):5'- CAGTGTTGTATGTGGCAAGC -3'

Sequencing Primer
(F):5'- ACCAGTTGTATCACAGAGTGC -3'
(R):5'- CAAGCATGATGGGAAACTGTCTC -3'

Posted On

2019-05-13