Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Or4f56'

536350

Institutional Source

Beutler Lab

Gene Symbol

Or4f56

Ensembl Gene

ENSMUSG00000074955

Gene Name

olfactory receptor family 4 subfamily F member 56

Synonyms

MOR245-8, Olfr1305, GA_x6K02T2Q125-72930843-72929905

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111867657-111877149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111872961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 298 (I298N)

Ref Sequence

ENSEMBL: ENSMUSP00000149852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099608] [ENSMUST00000213405] [ENSMUST00000213737]

AlphaFold

A2AVW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099608
AA Change: I298N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097203
Gene: ENSMUSG00000074955
AA Change: I298N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.4e-41	PFAM
Pfam:7TM_GPCR_Srsx	35	302	6.8e-7	PFAM
Pfam:7tm_1	41	287	4.1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213405
AA Change: I298N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213737
AA Change: I298N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068 (GRCm38)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628 (GRCm38)	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875 (GRCm38)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173 (GRCm38)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665 (GRCm38)	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352 (GRCm38)	L614P	probably benign	Het
Catsper1	G	T	19: 5,343,963 (GRCm38)	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918 (GRCm38)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107 (GRCm38)	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350 (GRCm38)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657 (GRCm38)		probably null	Het
Eif3l	A	G	15: 79,085,560 (GRCm38)	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468 (GRCm38)	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425 (GRCm38)		probably null	Het
Fgf23	G	T	6: 127,073,216 (GRCm38)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749 (GRCm38)	Y834F	probably damaging	Het
Gcn1	T	C	5: 115,588,110 (GRCm38)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276 (GRCm38)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132 (GRCm38)	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893 (GRCm38)	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621 (GRCm38)		probably null	Het
Ipo13	A	T	4: 117,904,911 (GRCm38)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771 (GRCm38)		probably null	Het
Kat6a	G	A	8: 22,932,361 (GRCm38)	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994 (GRCm38)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342 (GRCm38)	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908 (GRCm38)	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106 (GRCm38)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Myo10	T	C	15: 25,805,659 (GRCm38)	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194 (GRCm38)	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910 (GRCm38)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836 (GRCm38)		probably null	Het
Ogdh	A	G	11: 6,340,477 (GRCm38)	Y365C	probably benign	Het
Phf21b	A	T	15: 84,787,446 (GRCm38)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438 (GRCm38)	S373P	probably damaging	Het
Qrfprl	A	T	6: 65,456,336 (GRCm38)	N380I	probably benign	Het
Rab28	T	C	5: 41,703,534 (GRCm38)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226 (GRCm38)	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818 (GRCm38)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371 (GRCm38)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644 (GRCm38)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200 (GRCm38)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305 (GRCm38)	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506 (GRCm38)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902 (GRCm38)	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831 (GRCm38)	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673 (GRCm38)	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436 (GRCm38)	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630 (GRCm38)	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155 (GRCm38)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642 (GRCm38)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614 (GRCm38)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429 (GRCm38)	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640 (GRCm38)	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665 (GRCm38)	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007 (GRCm38)	N93K	possibly damaging	Het

Other mutations in Or4f56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Or4f56	APN	2	111,872,950 (GRCm38)	missense	probably benign	0.03
IGL02198:Or4f56	APN	2	111,873,248 (GRCm38)	missense	probably damaging	1.00
IGL02277:Or4f56	APN	2	111,873,580 (GRCm38)	missense	possibly damaging	0.91
IGL02302:Or4f56	APN	2	111,873,542 (GRCm38)	missense	possibly damaging	0.76
IGL03348:Or4f56	APN	2	111,873,148 (GRCm38)	missense	probably damaging	0.99
PIT4131001:Or4f56	UTSW	2	111,873,304 (GRCm38)	missense	probably benign	0.02
R2144:Or4f56	UTSW	2	111,873,423 (GRCm38)	missense	probably damaging	0.96
R2860:Or4f56	UTSW	2	111,873,473 (GRCm38)	nonsense	probably null
R2861:Or4f56	UTSW	2	111,873,473 (GRCm38)	nonsense	probably null
R3785:Or4f56	UTSW	2	111,873,486 (GRCm38)	missense	probably damaging	0.99
R4474:Or4f56	UTSW	2	111,873,439 (GRCm38)	missense	possibly damaging	0.52
R4508:Or4f56	UTSW	2	111,873,602 (GRCm38)	missense	probably damaging	1.00
R4540:Or4f56	UTSW	2	111,873,201 (GRCm38)	missense	probably damaging	1.00
R4783:Or4f56	UTSW	2	111,873,050 (GRCm38)	missense	possibly damaging	0.95
R4784:Or4f56	UTSW	2	111,873,050 (GRCm38)	missense	possibly damaging	0.95
R4785:Or4f56	UTSW	2	111,873,050 (GRCm38)	missense	possibly damaging	0.95
R5410:Or4f56	UTSW	2	111,873,292 (GRCm38)	missense	probably damaging	1.00
R5491:Or4f56	UTSW	2	111,873,562 (GRCm38)	missense	probably benign	0.44
R7185:Or4f56	UTSW	2	111,873,822 (GRCm38)	missense	possibly damaging	0.89
R7992:Or4f56	UTSW	2	111,872,935 (GRCm38)	missense	probably benign
R9100:Or4f56	UTSW	2	111,873,261 (GRCm38)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CCTAACAGGAGGTGATTGCC -3'
(R):5'- TGATTACTGCCAATAGTGGGTTC -3'

Sequencing Primer
(F):5'- CCTGAATGTGCTCAAAGGGTCTC -3'
(R):5'- TCAGGATGTTCATCCAAGGC -3'

Posted On

2018-10-18