Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Or4f60'

702225

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

068990-MU

Accession Numbers

Essential gene?

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

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111901991-111902928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111902718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 70 (D70V)

Ref Sequence

ENSEMBL: ENSMUSP00000149681 (fasta)

Gene Model

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

AlphaFold

Q7TQW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099599
AA Change: D70V

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

SMART Domains

Protein: ENSMUSP00000097194
Gene: ENSMUSG00000074946
AA Change: D70V

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: D70V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216071
AA Change: D70V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	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
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
R9423:Or4f60	UTSW	2	111,902,808 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCAGTTGTATCACAGAGTGC -3'
(R):5'- TTCCTGGGACTCACAAACTCC -3'

Sequencing Primer
(F):5'- ACATCTGGGGGCTCATCATG -3'
(R):5'- TGGGACTCACAAACTCCTGGAATATC -3'

Posted On

2022-03-25