Mutagenetix > Incidental Mutation

Incidental Mutation 'R7796:Or13p5'

600217

Institutional Source

Beutler Lab

Gene Symbol

Or13p5

Ensembl Gene

ENSMUSG00000070820

Gene Name

olfactory receptor family 13 subfamily P member 5

Synonyms

Olfr1339, MOR258-2, GA_x6K02T2QD9B-18815145-18814198

MMRRC Submission

045852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118591728-118592675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118591882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 52 (I52N)

Ref Sequence

ENSEMBL: ENSMUSP00000148988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094832] [ENSMUST00000217522]

AlphaFold

Q8VGB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094832
AA Change: I52N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092428
Gene: ENSMUSG00000070820
AA Change: I52N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	309	2.7e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	307	4.1e-7	PFAM
Pfam:7tm_1	44	293	3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217522
AA Change: I52N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	T	A	16: 97,867,024 (GRCm39)	I313F	probably benign	Het
Acot2	T	A	12: 84,035,257 (GRCm39)		probably null	Het
Agbl4	G	T	4: 110,518,165 (GRCm39)	G152V	unknown	Het
Arap2	A	G	5: 62,888,105 (GRCm39)	S414P	probably damaging	Het
Cep85l	A	C	10: 53,157,497 (GRCm39)	N735K	probably damaging	Het
Col12a1	T	C	9: 79,585,833 (GRCm39)	S1209G	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dpf1	C	G	7: 29,011,106 (GRCm39)	N168K	possibly damaging	Het
Dync1li2	T	A	8: 105,157,181 (GRCm39)	Y184F	probably damaging	Het
Epb41l2	A	G	10: 25,319,727 (GRCm39)	T187A	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fndc3b	G	A	3: 27,515,892 (GRCm39)	T638I	probably benign	Het
Gm11564	A	G	11: 99,706,424 (GRCm39)	V2A	unknown	Het
Gm3159	A	G	14: 4,400,560 (GRCm38)	*206W	probably null	Het
Gm32742	A	G	9: 51,071,123 (GRCm39)		probably null	Het
Gm4847	G	A	1: 166,469,819 (GRCm39)	H85Y	probably damaging	Het
Gprc5c	A	T	11: 114,755,358 (GRCm39)	D345V	probably damaging	Het
Kalrn	A	T	16: 34,007,854 (GRCm39)	Y1363*	probably null	Het
Kdm5a	T	C	6: 120,367,724 (GRCm39)	V473A	probably damaging	Het
Kidins220	T	C	12: 25,032,350 (GRCm39)	C28R	probably damaging	Het
Klhl5	T	C	5: 65,321,965 (GRCm39)	Y664H	probably damaging	Het
Krt17	A	G	11: 100,151,698 (GRCm39)	S32P	probably benign	Het
Krt87	A	G	15: 101,383,865 (GRCm39)	V424A	possibly damaging	Het
Lipo3	T	C	19: 33,759,634 (GRCm39)	T201A	possibly damaging	Het
Map2	A	G	1: 66,455,654 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,410,731 (GRCm39)	T680N	possibly damaging	Het
Metap1d	T	A	2: 71,342,506 (GRCm39)	D178E	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mki67	A	G	7: 135,299,923 (GRCm39)	S1704P	probably damaging	Het
Nr2f2	A	G	7: 70,007,901 (GRCm39)	S194P	probably benign	Het
Nrsn2	T	A	2: 152,218,471 (GRCm39)		probably benign	Het
Ociad1	C	T	5: 73,452,290 (GRCm39)	P27L	probably damaging	Het
Or4a39	T	A	2: 89,237,157 (GRCm39)	T89S	possibly damaging	Het
Patj	A	T	4: 98,435,220 (GRCm39)	M1L	probably benign	Het
Pcdhb2	A	G	18: 37,428,446 (GRCm39)	I140V	possibly damaging	Het
Pla2g6	T	C	15: 79,202,025 (GRCm39)	N49D	probably benign	Het
Pramel22	T	A	4: 143,380,727 (GRCm39)	D432V	possibly damaging	Het
Pxdc1	T	A	13: 34,836,354 (GRCm39)	N22I	probably damaging	Het
Rpgrip1l	A	G	8: 91,996,865 (GRCm39)	Y672H	probably damaging	Het
Rps23rg1	T	C	8: 3,634,160 (GRCm39)	V111A	probably benign	Het
Safb2	T	C	17: 56,873,327 (GRCm39)	R779G	possibly damaging	Het
Skic2	C	T	17: 35,063,394 (GRCm39)	G628S	probably damaging	Het
Smg5	A	T	3: 88,256,739 (GRCm39)	Q299L	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Sulf1	T	C	1: 12,929,044 (GRCm39)	L864S	probably benign	Het
Tas1r1	A	G	4: 152,119,212 (GRCm39)	V119A	probably benign	Het
Tasp1	T	C	2: 139,850,705 (GRCm39)	N106S	probably damaging	Het
Tcf4	T	A	18: 69,697,140 (GRCm39)	N156K	probably benign	Het
Trav14n-3	T	A	14: 53,607,827 (GRCm39)	Y52*	probably null	Het
Ttn	T	C	2: 76,665,222 (GRCm39)	E11598G	unknown	Het
Unc80	A	G	1: 66,542,873 (GRCm39)	I376V	probably benign	Het
Ybx3	T	C	6: 131,345,479 (GRCm39)	E298G	probably damaging	Het
Yipf7	T	C	5: 69,684,596 (GRCm39)	Y73C	possibly damaging	Het
Zdbf2	G	A	1: 63,342,583 (GRCm39)	A321T	possibly damaging	Het
Zfp369	A	G	13: 65,444,029 (GRCm39)	R391G	probably benign	Het
Zfp54	A	G	17: 21,654,982 (GRCm39)	E492G	probably damaging	Het
Zfp971	A	G	2: 177,673,403 (GRCm39)	T51A	probably benign	Het

Other mutations in Or13p5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02834:Or13p5	APN	4	118,591,803 (GRCm39)	missense	probably benign	0.01
R0433:Or13p5	UTSW	4	118,592,287 (GRCm39)	missense	probably benign	0.20
R0600:Or13p5	UTSW	4	118,591,986 (GRCm39)	missense	probably damaging	0.99
R0737:Or13p5	UTSW	4	118,592,421 (GRCm39)	missense	probably benign	0.01
R1167:Or13p5	UTSW	4	118,591,829 (GRCm39)	missense	possibly damaging	0.83
R1655:Or13p5	UTSW	4	118,592,196 (GRCm39)	missense	probably benign	0.18
R2152:Or13p5	UTSW	4	118,592,446 (GRCm39)	missense	possibly damaging	0.90
R3883:Or13p5	UTSW	4	118,591,882 (GRCm39)	missense	probably benign	0.38
R4715:Or13p5	UTSW	4	118,591,852 (GRCm39)	missense	probably damaging	1.00
R4750:Or13p5	UTSW	4	118,591,930 (GRCm39)	missense	possibly damaging	0.66
R4887:Or13p5	UTSW	4	118,591,885 (GRCm39)	missense	probably benign	0.20
R4888:Or13p5	UTSW	4	118,591,885 (GRCm39)	missense	probably benign	0.20
R5624:Or13p5	UTSW	4	118,592,568 (GRCm39)	missense	probably damaging	1.00
R7268:Or13p5	UTSW	4	118,592,605 (GRCm39)	missense	probably damaging	1.00
R7783:Or13p5	UTSW	4	118,592,099 (GRCm39)	missense	probably damaging	1.00
R8676:Or13p5	UTSW	4	118,592,235 (GRCm39)	missense	probably damaging	1.00
Z1177:Or13p5	UTSW	4	118,592,653 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTGGGATGGGCAAAGTGAC -3'
(R):5'- CCAGAAAGATGTACATCTGGGC -3'

Sequencing Primer
(F):5'- CTAAGATGTGCCACTAGGTCC -3'
(R):5'- GATGTACATCTGGGCCACAC -3'

Posted On

2019-11-26