Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Or4f52'

591480

Institutional Source

Beutler Lab

Gene Symbol

Or4f52

Ensembl Gene

ENSMUSG00000074966

Gene Name

olfactory receptor family 4 subfamily F member 52

Synonyms

MOR245-18, GA_x6K02T2Q125-72283260-72282322, Olfr1275

MMRRC Submission

045735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111061198-111063738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111061960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 59 (M59I)

Ref Sequence

ENSEMBL: ENSMUSP00000150515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000099620] [ENSMUST00000216421] [ENSMUST00000217539]

AlphaFold

Q7TQY8

Predicted Effect

probably benign
Transcript: ENSMUST00000028577

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099620
AA Change: M59I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
AA Change: M59I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	9.8e-37	PFAM
Pfam:7tm_1	41	287	5.6e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216421
AA Change: M59I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217539
AA Change: M59I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.2537

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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
4933427I04Rik	A	T	4: 123,754,512 (GRCm39)	H142L	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,689 (GRCm39)	I64M	probably benign	Het
Abca13	A	G	11: 9,240,678 (GRCm39)	E847G	probably benign	Het
Abca9	T	A	11: 110,006,278 (GRCm39)	T1276S	probably benign	Het
Abcb11	C	T	2: 69,117,938 (GRCm39)		probably null	Het
Alpk1	G	C	3: 127,474,616 (GRCm39)	H462Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atm	C	T	9: 53,356,807 (GRCm39)	V2815M	probably benign	Het
Braf	T	C	6: 39,600,575 (GRCm39)	I681V	possibly damaging	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Crybg1	T	C	10: 43,874,831 (GRCm39)	D759G	probably damaging	Het
Csrp2	A	G	10: 110,773,624 (GRCm39)	N103S	probably benign	Het
Faf1	A	T	4: 109,719,034 (GRCm39)	H380L	probably damaging	Het
Farp1	G	A	14: 121,514,334 (GRCm39)	A888T	probably benign	Het
Fat4	A	T	3: 39,035,309 (GRCm39)	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,232,578 (GRCm39)	T665S	probably benign	Het
Gigyf1	T	C	5: 137,519,231 (GRCm39)	S343P	probably benign	Het
Glrx3	A	G	7: 137,060,954 (GRCm39)	Y196C	probably damaging	Het
Gm3278	T	G	14: 16,080,387 (GRCm39)	L66R	probably damaging	Het
Ifi205	A	G	1: 173,855,814 (GRCm39)	V72A	probably benign	Het
Ift140	T	G	17: 25,270,798 (GRCm39)	L708R	probably damaging	Het
Ints13	A	T	6: 146,458,836 (GRCm39)	L328M	probably benign	Het
Itfg2	A	G	6: 128,401,709 (GRCm39)	I23T	probably damaging	Het
Ldha	C	T	7: 46,499,681 (GRCm39)	P100S	unknown	Het
Lmtk2	T	A	5: 144,085,158 (GRCm39)	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,816 (GRCm39)	I600L	probably benign	Het
Map2	C	A	1: 66,453,536 (GRCm39)	P809T	probably damaging	Het
Matn2	T	A	15: 34,423,874 (GRCm39)	C577*	probably null	Het
Matn2	A	G	15: 34,403,092 (GRCm39)	K439R	probably benign	Het
Mep1a	C	T	17: 43,789,868 (GRCm39)	G494S	probably benign	Het
Mtmr4	T	C	11: 87,495,406 (GRCm39)	F488L	probably damaging	Het
Mtus1	G	T	8: 41,469,248 (GRCm39)	T8K	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,384,716 (GRCm39)	T523A	possibly damaging	Het
Ncoa3	C	T	2: 165,911,241 (GRCm39)	P1334S	probably benign	Het
Neb	T	G	2: 52,139,451 (GRCm39)	M119L		Het
Nox4	T	C	7: 87,019,230 (GRCm39)	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,664,690 (GRCm39)	R510Q	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or5p60	A	G	7: 107,724,041 (GRCm39)	V143A	probably benign	Het
Or6c214	C	A	10: 129,590,432 (GRCm39)	E296*	probably null	Het
Or7g23	T	C	9: 19,086,804 (GRCm39)	H56R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,174 (GRCm39)	S116T	possibly damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pax8	T	C	2: 24,326,573 (GRCm39)	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,138,904 (GRCm39)	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,890,183 (GRCm39)	T397M	possibly damaging	Het
Pdlim5	G	T	3: 141,964,946 (GRCm39)	H428N	probably damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Rgs3	A	G	4: 62,619,349 (GRCm39)	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 31,909,883 (GRCm39)	E68K	probably damaging	Het
Sema4b	C	A	7: 79,869,995 (GRCm39)	Q428K	probably benign	Het
Semp2l2a	A	T	8: 13,887,995 (GRCm39)	I32K	probably benign	Het
Serpine2	T	C	1: 79,780,622 (GRCm39)	T276A	probably benign	Het
Sgo2b	G	A	8: 64,393,108 (GRCm39)	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,954,208 (GRCm39)	L833S	probably benign	Het
Slc6a15	T	A	10: 103,229,241 (GRCm39)		probably null	Het
Srfbp1	G	A	18: 52,608,671 (GRCm39)	V24I	probably damaging	Het
Stpg2	A	T	3: 139,407,458 (GRCm39)	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782 (GRCm39)	S1766T	probably benign	Het
Tiam2	T	A	17: 3,532,880 (GRCm39)	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170 (GRCm39)	I661K	possibly damaging	Het
Trim5	T	C	7: 103,928,569 (GRCm39)	H124R	probably damaging	Het
Trim67	T	A	8: 125,547,024 (GRCm39)	L478Q	probably damaging	Het
Triml2	A	G	8: 43,646,357 (GRCm39)	D282G	probably damaging	Het
Txndc11	T	C	16: 10,905,793 (GRCm39)	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,824,629 (GRCm39)	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,428,767 (GRCm39)	V128A	not run	Het
Vmn2r130	T	A	17: 23,296,006 (GRCm39)	D725E	probably damaging	Het
Vmn2r70	T	G	7: 85,218,130 (GRCm39)	N56T	probably damaging	Het
Wdr95	T	C	5: 149,517,945 (GRCm39)	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,772,742 (GRCm39)	T249A	probably damaging	Het
Zfp54	T	C	17: 21,654,501 (GRCm39)	C332R	probably damaging	Het

Other mutations in Or4f52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
3-1:Or4f52	UTSW	2	111,061,808 (GRCm39)	missense	possibly damaging	0.77
R0477:Or4f52	UTSW	2	111,062,009 (GRCm39)	missense	probably benign	0.00
R1209:Or4f52	UTSW	2	111,061,958 (GRCm39)	missense	probably damaging	1.00
R1780:Or4f52	UTSW	2	111,062,043 (GRCm39)	missense	probably benign
R5386:Or4f52	UTSW	2	111,061,539 (GRCm39)	missense	probably benign	0.05
R5637:Or4f52	UTSW	2	111,061,456 (GRCm39)	missense	probably benign	0.26
R5819:Or4f52	UTSW	2	111,061,304 (GRCm39)	missense	probably damaging	1.00
R6007:Or4f52	UTSW	2	111,061,275 (GRCm39)	missense	probably benign	0.30
R6414:Or4f52	UTSW	2	111,061,497 (GRCm39)	splice site	probably null
R6557:Or4f52	UTSW	2	111,061,976 (GRCm39)	missense	probably benign	0.01
R6864:Or4f52	UTSW	2	111,061,542 (GRCm39)	missense	probably benign	0.26
R7035:Or4f52	UTSW	2	111,061,784 (GRCm39)	missense	probably damaging	1.00
R7708:Or4f52	UTSW	2	111,061,863 (GRCm39)	missense	probably damaging	1.00
R8739:Or4f52	UTSW	2	111,061,834 (GRCm39)	missense	probably benign	0.00
R9541:Or4f52	UTSW	2	111,061,275 (GRCm39)	missense	probably damaging	0.99
R9727:Or4f52	UTSW	2	111,061,961 (GRCm39)	missense	probably damaging	1.00
R9764:Or4f52	UTSW	2	111,061,521 (GRCm39)	missense	probably damaging	0.98
Z1177:Or4f52	UTSW	2	111,061,375 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATATGGCCACATATCTGTCCCAGG -3'
(R):5'- GATCTGAATAACTGAAGACAGCTC -3'

Sequencing Primer
(F):5'- CACATATCTGTCCCAGGCCATGG -3'
(R):5'- CTGAATAACTGAAGACAGCTCAAATG -3'

Posted On

2019-11-12