Mutagenetix > Incidental Mutation

Incidental Mutation 'R0791:Or5p56'

82395

Institutional Source

Beutler Lab

Gene Symbol

Or5p56

Ensembl Gene

ENSMUSG00000096151

Gene Name

olfactory receptor family 5 subfamily P member 56

Synonyms

Olfr477, GA_x6K02T2PBJ9-10319672-10320604, MOR204-1

MMRRC Submission

038971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107589574-107590506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107589740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 56 (H56R)

Ref Sequence

ENSEMBL: ENSMUSP00000150605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091605] [ENSMUST00000214677]

AlphaFold

Q8VGI6

Predicted Effect

probably benign
Transcript: ENSMUST00000091605
AA Change: H56R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091654
Gene: ENSMUSG00000096151
AA Change: H56R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8e-52	PFAM
Pfam:7tm_1	41	290	1.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214677
AA Change: H56R

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,244,111 (GRCm39)	Y55H	probably damaging	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,720,439 (GRCm39)	V66A	probably benign	Het
Ccdc33	T	C	9: 57,936,046 (GRCm39)	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,616,557 (GRCm39)		probably null	Het
Cenpn	T	A	8: 117,667,559 (GRCm39)		probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Clca3a1	A	C	3: 144,710,615 (GRCm39)	S863A	probably benign	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Dock4	C	T	12: 40,754,480 (GRCm39)	R490W	probably damaging	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,738,282 (GRCm39)	S59G	probably benign	Het
Glb1l2	A	G	9: 26,681,047 (GRCm39)	V218A	possibly damaging	Het
Gpatch1	A	T	7: 34,980,801 (GRCm39)		probably benign	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,461,588 (GRCm39)	T109N	probably damaging	Het
Ipo8	A	G	6: 148,723,225 (GRCm39)	V64A	possibly damaging	Het
Jpt2	C	A	17: 25,167,647 (GRCm39)	A101S	probably benign	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Large1	A	G	8: 73,775,107 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Mpz	C	A	1: 170,986,343 (GRCm39)	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,654,684 (GRCm39)	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,528 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,169,656 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Nbas	T	A	12: 13,532,634 (GRCm39)	S1781T	probably benign	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Osbp2	G	A	11: 3,661,882 (GRCm39)		probably benign	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Ptpn14	C	T	1: 189,568,637 (GRCm39)		probably benign	Het
Rims2	A	G	15: 39,543,021 (GRCm39)		probably benign	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sema3g	T	A	14: 30,942,861 (GRCm39)		probably benign	Het
Slc30a6	T	C	17: 74,722,640 (GRCm39)	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,315,421 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Twnk	T	C	19: 44,998,693 (GRCm39)		probably benign	Het
Tymp	T	C	15: 89,259,021 (GRCm39)	K221R	probably damaging	Het
Uaca	C	A	9: 60,779,341 (GRCm39)	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 79,232,016 (GRCm39)		probably benign	Het
Wnt4	C	T	4: 137,016,594 (GRCm39)	R83W	probably damaging	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	probably benign	Het
Zfp974	A	T	7: 27,609,510 (GRCm39)	Y738*	probably null	Het
Zkscan4	A	C	13: 21,668,081 (GRCm39)	E177D	probably benign	Het

Other mutations in Or5p56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Or5p56	APN	7	107,590,097 (GRCm39)	missense	probably damaging	0.97
IGL01078:Or5p56	APN	7	107,590,150 (GRCm39)	missense	probably benign	0.02
IGL01141:Or5p56	APN	7	107,589,758 (GRCm39)	missense	probably damaging	1.00
IGL02613:Or5p56	APN	7	107,590,381 (GRCm39)	nonsense	probably null
R0625:Or5p56	UTSW	7	107,590,396 (GRCm39)	missense	probably damaging	1.00
R1254:Or5p56	UTSW	7	107,589,647 (GRCm39)	missense	probably benign	0.01
R1456:Or5p56	UTSW	7	107,589,605 (GRCm39)	missense	probably benign	0.06
R1522:Or5p56	UTSW	7	107,589,740 (GRCm39)	missense	probably benign	0.27
R1541:Or5p56	UTSW	7	107,590,048 (GRCm39)	missense	probably benign	0.10
R2889:Or5p56	UTSW	7	107,589,784 (GRCm39)	missense	probably benign	0.06
R5653:Or5p56	UTSW	7	107,589,592 (GRCm39)	missense	probably benign	0.38
R6146:Or5p56	UTSW	7	107,589,620 (GRCm39)	missense	probably damaging	1.00
R6190:Or5p56	UTSW	7	107,590,307 (GRCm39)	missense	probably damaging	1.00
R7103:Or5p56	UTSW	7	107,589,805 (GRCm39)	missense	possibly damaging	0.92
R7191:Or5p56	UTSW	7	107,589,853 (GRCm39)	missense	possibly damaging	0.88
R7553:Or5p56	UTSW	7	107,589,682 (GRCm39)	missense	probably benign	0.03
R7681:Or5p56	UTSW	7	107,590,355 (GRCm39)	missense	possibly damaging	0.80
Z1088:Or5p56	UTSW	7	107,589,938 (GRCm39)	missense	probably benign	0.42
Z1177:Or5p56	UTSW	7	107,590,301 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGATGGAGGCTCAAAACCACAC -3'
(R):5'- TTCAGCACAGCAGGGAAGTCAC -3'

Sequencing Primer
(F):5'- CACCACTGTGAAAGAATTCATCC -3'
(R):5'- CTATCTGATTTGGTCCACAGAAGG -3'

Posted On

2013-11-08