Mutagenetix > Incidental Mutation

Incidental Mutation 'R7761:Or4f53'

597843

Institutional Source

Beutler Lab

Gene Symbol

Or4f53

Ensembl Gene

ENSMUSG00000063844

Gene Name

olfactory receptor family 4 subfamily F member 53

Synonyms

MOR245-10, GA_x6K02T2Q125-72308574-72309512, Olfr1276

MMRRC Submission

045817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R7761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111087462-111088400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111087519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 20 (S20P)

Ref Sequence

ENSEMBL: ENSMUSP00000151987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073322] [ENSMUST00000218065]

AlphaFold

Q8VF40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073322
AA Change: S20P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: S20P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	304	9.7e-40	PFAM
Pfam:7tm_1	41	287	4.5e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218065
AA Change: S20P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (72/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,369,447 (GRCm39)	C378Y	probably damaging	Het
Adcy6	A	C	15: 98,497,895 (GRCm39)	L421R	probably damaging	Het
AI837181	A	G	19: 5,476,319 (GRCm39)	T161A	probably benign	Het
Ascl2	A	G	7: 142,521,840 (GRCm39)	S203P	possibly damaging	Het
Casq2	G	T	3: 102,052,580 (GRCm39)	W364L	probably damaging	Het
Cdc20	T	C	4: 118,293,186 (GRCm39)	T245A	possibly damaging	Het
Cfap99	C	T	5: 34,480,774 (GRCm39)	Q475*	probably null	Het
Chmp2b	G	A	16: 65,343,745 (GRCm39)	T104I	possibly damaging	Het
Cimap1c	A	G	9: 56,759,822 (GRCm39)	L16P	unknown	Het
Cln3	A	T	7: 126,180,886 (GRCm39)	Y52N	probably damaging	Het
Cpm	A	G	10: 117,519,340 (GRCm39)	Y416C	possibly damaging	Het
Creb3l3	T	C	10: 80,920,833 (GRCm39)	D399G	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,707 (GRCm39)	K303*	probably null	Het
Dbnl	A	G	11: 5,738,597 (GRCm39)	Q13R	probably benign	Het
Dnah11	T	A	12: 117,987,648 (GRCm39)	Q2418L	probably damaging	Het
Echs1	A	T	7: 139,692,378 (GRCm39)	I123N	probably damaging	Het
Exd2	T	C	12: 80,522,546 (GRCm39)	S2P	probably damaging	Het
F2rl1	A	G	13: 95,650,382 (GRCm39)	F167L	probably damaging	Het
Fam83g	C	A	11: 61,575,584 (GRCm39)	D75E	possibly damaging	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Ggnbp2	A	T	11: 84,730,803 (GRCm39)		probably null	Het
Gm10283	A	T	8: 60,954,236 (GRCm39)		probably null	Het
Gm14410	T	C	2: 176,885,527 (GRCm39)	N246D	probably benign	Het
Gpr39	A	T	1: 125,605,249 (GRCm39)	Q59L	probably damaging	Het
Hic1	C	T	11: 75,058,200 (GRCm39)	A230T	probably damaging	Het
Hmcn1	A	G	1: 150,598,196 (GRCm39)	L1702P	possibly damaging	Het
Kif13a	A	T	13: 46,951,955 (GRCm39)	Y773N	probably benign	Het
Lins1	A	T	7: 66,363,853 (GRCm39)	R583*	probably null	Het
Lrch4	T	A	5: 137,638,025 (GRCm39)	H102Q		Het
Ltn1	T	C	16: 87,208,681 (GRCm39)	T806A	probably benign	Het
Luc7l2	G	A	6: 38,531,999 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,728,055 (GRCm39)	I25T	unknown	Het
Muc16	G	T	9: 18,491,870 (GRCm39)	T6727N	probably damaging	Het
Nalcn	C	A	14: 123,531,791 (GRCm39)	G1353V	probably damaging	Het
Nalcn	C	G	14: 123,531,792 (GRCm39)	G1353R	probably damaging	Het
Nbeal1	C	T	1: 60,358,500 (GRCm39)	P2476S	probably benign	Het
Nell2	T	C	15: 95,330,550 (GRCm39)	T233A	probably damaging	Het
Nobox	G	A	6: 43,281,125 (GRCm39)	Q450*	probably null	Het
Nostrin	T	G	2: 68,991,466 (GRCm39)	L153R	possibly damaging	Het
Nup160	T	C	2: 90,533,456 (GRCm39)	V635A	probably benign	Het
Opn4	T	A	14: 34,320,809 (GRCm39)	M84L	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Or4k77	C	T	2: 111,199,138 (GRCm39)	H54Y	probably benign	Het
Or56a42-ps1	A	G	7: 104,775,926 (GRCm39)	I184T	probably benign	Het
Papolg	T	C	11: 23,841,884 (GRCm39)	Q13R	probably benign	Het
Pax6	T	G	2: 105,522,036 (GRCm39)	F231C	probably damaging	Het
Pcdha3	T	C	18: 37,079,347 (GRCm39)	Y30H	probably damaging	Het
Pkhd1l1	A	G	15: 44,393,280 (GRCm39)	T1872A	probably benign	Het
Pln	T	C	10: 53,220,005 (GRCm39)	S16P	probably damaging	Het
Ppp4r3a	C	T	12: 101,022,080 (GRCm39)	E308K	probably damaging	Het
Prp2	C	T	6: 132,577,306 (GRCm39)	Q198*	probably null	Het
Ptpn20	T	A	14: 33,344,509 (GRCm39)	S144R	probably benign	Het
Pum3	A	T	19: 27,404,492 (GRCm39)	F10L	probably benign	Het
Rapgefl1	A	T	11: 98,728,485 (GRCm39)	D169V	probably benign	Het
Rbm12b1	T	C	4: 12,146,460 (GRCm39)	Y811H	possibly damaging	Het
Rcor1	T	A	12: 111,076,297 (GRCm39)	F418L		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd11	T	C	4: 156,332,282 (GRCm39)	T520A	probably benign	Het
Scn3a	T	A	2: 65,359,798 (GRCm39)	T137S	possibly damaging	Het
Sgo2b	T	C	8: 64,379,946 (GRCm39)	N962S	probably benign	Het
Slc39a12	T	A	2: 14,439,141 (GRCm39)	I465N	probably benign	Het
Spcs1	T	A	14: 30,723,607 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,529,860 (GRCm39)	V2039A	probably benign	Het
Syt11	G	T	3: 88,669,778 (GRCm39)	T38K	possibly damaging	Het
Tcf7l2	T	A	19: 55,914,468 (GRCm39)	C454S	probably damaging	Het
Tfap2a	G	C	13: 40,878,656 (GRCm39)	H155D	probably benign	Het
Trim46	T	C	3: 89,149,565 (GRCm39)	K273R	probably damaging	Het
Trim60	A	T	8: 65,453,964 (GRCm39)	V95E	possibly damaging	Het
Ttc39d	G	A	17: 80,524,741 (GRCm39)	A467T	probably damaging	Het
Ttn	T	C	2: 76,550,274 (GRCm39)	T31636A	probably benign	Het
U2surp	A	G	9: 95,370,814 (GRCm39)	V420A	probably damaging	Het
Vps26b	T	C	9: 26,940,826 (GRCm39)	D31G	probably benign	Het
Vps35	T	C	8: 86,010,707 (GRCm39)	E212G	possibly damaging	Het
Zfp1010	T	C	2: 176,957,310 (GRCm39)	I63V	possibly damaging	Het

Other mutations in Or4f53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02339:Or4f53	APN	2	111,087,588 (GRCm39)	missense	probably benign	0.00
IGL03298:Or4f53	APN	2	111,087,879 (GRCm39)	missense	probably benign
R0022:Or4f53	UTSW	2	111,087,994 (GRCm39)	missense	probably benign	0.30
R0254:Or4f53	UTSW	2	111,087,466 (GRCm39)	missense	probably benign	0.13
R3903:Or4f53	UTSW	2	111,088,114 (GRCm39)	missense	probably damaging	1.00
R4801:Or4f53	UTSW	2	111,087,497 (GRCm39)	missense	probably damaging	1.00
R4802:Or4f53	UTSW	2	111,087,497 (GRCm39)	missense	probably damaging	1.00
R5165:Or4f53	UTSW	2	111,087,568 (GRCm39)	missense	possibly damaging	0.83
R5341:Or4f53	UTSW	2	111,087,982 (GRCm39)	missense	probably damaging	1.00
R5619:Or4f53	UTSW	2	111,087,856 (GRCm39)	missense	probably damaging	1.00
R8181:Or4f53	UTSW	2	111,087,918 (GRCm39)	missense	probably benign
R9456:Or4f53	UTSW	2	111,088,348 (GRCm39)	missense	probably benign	0.00
R9571:Or4f53	UTSW	2	111,088,083 (GRCm39)	missense	probably benign	0.38
R9761:Or4f53	UTSW	2	111,087,607 (GRCm39)	missense	possibly damaging	0.63
R9761:Or4f53	UTSW	2	111,087,606 (GRCm39)	missense	probably benign	0.00
Z1088:Or4f53	UTSW	2	111,088,204 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCCAAGGGCTTTGCTAATTGAG -3'
(R):5'- ATGGTATTATGCCCAGAGGACAG -3'

Sequencing Primer
(F):5'- TGCTAATTGAGGGTGAAGATTTTTC -3'
(R):5'- CAGGTCAGAAATCATCTTGGGTAC -3'

Posted On

2019-11-26