Mutagenetix > Incidental Mutation

Incidental Mutation 'R4508:Or4f56'

331058

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

041757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4508 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111703260-111704198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 111703947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 84 (D84E)

Ref Sequence

ENSEMBL: ENSMUSP00000149852 (fasta)

Gene Model

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

AlphaFold

A2AVW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099608
AA Change: D84E

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

SMART Domains

Protein: ENSMUSP00000097203
Gene: ENSMUSG00000074955
AA Change: D84E

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

probably damaging
Transcript: ENSMUST00000213405
AA Change: D84E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213737
AA Change: D84E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216310

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (50/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,746,275 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,380 (GRCm39)	R540G	probably benign	Het
Ank	C	T	15: 27,565,063 (GRCm39)	R255W	probably damaging	Het
Ank3	A	C	10: 69,728,200 (GRCm39)	I629L	probably damaging	Het
Arhgap11a	T	A	2: 113,672,387 (GRCm39)	N194Y	probably damaging	Het
BB014433	T	C	8: 15,092,095 (GRCm39)	T253A	possibly damaging	Het
Ccdc40	C	A	11: 119,133,335 (GRCm39)	D534E	probably damaging	Het
Chrna2	C	A	14: 66,383,902 (GRCm39)	N106K	probably damaging	Het
Clec2f	C	A	6: 128,997,474 (GRCm39)		noncoding transcript	Het
Cnnm2	G	A	19: 46,865,709 (GRCm39)	D766N	probably benign	Het
Ctc1	A	G	11: 68,906,943 (GRCm39)		probably null	Het
Ddc	C	T	11: 11,769,393 (GRCm39)		probably null	Het
Doc2g	G	A	19: 4,054,036 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,851,481 (GRCm39)	T1334A	unknown	Het
Epdr1	T	C	13: 19,778,659 (GRCm39)	I44V	probably benign	Het
Fbp2	A	T	13: 62,989,679 (GRCm39)	I209N	probably damaging	Het
Garin1b	T	C	6: 29,323,764 (GRCm39)	V163A	probably benign	Het
Get1	T	A	16: 95,946,899 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,120,807 (GRCm39)	Q375K	probably damaging	Het
Hc	A	C	2: 34,903,077 (GRCm39)	V1058G	possibly damaging	Het
Hydin	T	A	8: 111,245,886 (GRCm39)	S2200T	possibly damaging	Het
Kcnc1	C	T	7: 46,077,712 (GRCm39)	P505S	probably benign	Het
Kifc3	T	C	8: 95,834,048 (GRCm39)		probably null	Het
Klhl10	A	G	11: 100,333,002 (GRCm39)	E49G	possibly damaging	Het
Lhx5	T	C	5: 120,573,499 (GRCm39)	S161P	probably damaging	Het
Lilra6	G	T	7: 3,915,028 (GRCm39)	Y455*	probably null	Het
Lzts1	C	T	8: 69,588,270 (GRCm39)	R562H	probably benign	Het
Muc6	G	A	7: 141,226,356 (GRCm39)		probably benign	Het
Ogfod2	C	T	5: 124,251,317 (GRCm39)	Q74*	probably null	Het
Or5h17	T	A	16: 58,820,138 (GRCm39)	V30E	probably benign	Het
Polr2a	T	C	11: 69,633,385 (GRCm39)		probably null	Het
Ptpre	T	C	7: 135,270,832 (GRCm39)	L329P	probably damaging	Het
Rnh1	T	C	7: 140,744,456 (GRCm39)	Q73R	possibly damaging	Het
Scly	G	A	1: 91,236,047 (GRCm39)	V100I	possibly damaging	Het
Sos2	A	T	12: 69,682,435 (GRCm39)	L261*	probably null	Het
Sp1	A	C	15: 102,317,747 (GRCm39)	Q422P	possibly damaging	Het
Sp3	A	T	2: 72,800,741 (GRCm39)	F468Y	probably damaging	Het
Tenm2	T	C	11: 35,899,172 (GRCm39)	Y2662C	possibly damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss2	C	A	16: 97,371,627 (GRCm39)	G281C	probably damaging	Het
Tmprss6	A	T	15: 78,343,978 (GRCm39)	Y183N	probably damaging	Het
Ttn	A	T	2: 76,580,684 (GRCm39)	L23403Q	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r90	T	C	7: 14,296,084 (GRCm39)	N5D	probably benign	Het
Vps13b	A	G	15: 35,709,819 (GRCm39)	D1922G	possibly damaging	Het

Other mutations in Or4f56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Or4f56	APN	2	111,703,295 (GRCm39)	missense	probably benign	0.03
IGL02198:Or4f56	APN	2	111,703,593 (GRCm39)	missense	probably damaging	1.00
IGL02277:Or4f56	APN	2	111,703,925 (GRCm39)	missense	possibly damaging	0.91
IGL02302:Or4f56	APN	2	111,703,887 (GRCm39)	missense	possibly damaging	0.76
IGL03348:Or4f56	APN	2	111,703,493 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Or4f56	UTSW	2	111,703,649 (GRCm39)	missense	probably benign	0.02
R2144:Or4f56	UTSW	2	111,703,768 (GRCm39)	missense	probably damaging	0.96
R2860:Or4f56	UTSW	2	111,703,818 (GRCm39)	nonsense	probably null
R2861:Or4f56	UTSW	2	111,703,818 (GRCm39)	nonsense	probably null
R3785:Or4f56	UTSW	2	111,703,831 (GRCm39)	missense	probably damaging	0.99
R4474:Or4f56	UTSW	2	111,703,784 (GRCm39)	missense	possibly damaging	0.52
R4540:Or4f56	UTSW	2	111,703,546 (GRCm39)	missense	probably damaging	1.00
R4783:Or4f56	UTSW	2	111,703,395 (GRCm39)	missense	possibly damaging	0.95
R4784:Or4f56	UTSW	2	111,703,395 (GRCm39)	missense	possibly damaging	0.95
R4785:Or4f56	UTSW	2	111,703,395 (GRCm39)	missense	possibly damaging	0.95
R5410:Or4f56	UTSW	2	111,703,637 (GRCm39)	missense	probably damaging	1.00
R5491:Or4f56	UTSW	2	111,703,907 (GRCm39)	missense	probably benign	0.44
R6875:Or4f56	UTSW	2	111,703,306 (GRCm39)	missense	possibly damaging	0.92
R7185:Or4f56	UTSW	2	111,704,167 (GRCm39)	missense	possibly damaging	0.89
R7992:Or4f56	UTSW	2	111,703,280 (GRCm39)	missense	probably benign
R9100:Or4f56	UTSW	2	111,703,606 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCAGCAACTAATATTAGCAGGCAC -3'
(R):5'- TGGGGCTCTCAAATTCCTGG -3'

Sequencing Primer
(F):5'- TATTAGCAGGCACATCCGTG -3'
(R):5'- ACAGTCACTTCTGATCCCT -3'

Posted On

2015-07-21