Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Olfr713'

481309

Institutional Source

Beutler Lab

Gene Symbol

Olfr713

Ensembl Gene

ENSMUSG00000073898

Gene Name

olfactory receptor 713

Synonyms

GA_x6K02T2PBJ9-9415724-9416677, MOR263-1, P3

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107031174-107040994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107036336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 60 (M60I)

Ref Sequence

ENSEMBL: ENSMUSP00000150042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098138] [ENSMUST00000098139] [ENSMUST00000213623]

AlphaFold

Q920G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000098138
AA Change: M60I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095741
Gene: ENSMUSG00000073897
AA Change: M60I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	2.6e-58	PFAM
Pfam:7tm_1	42	291	2.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098139
AA Change: M67I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095743
Gene: ENSMUSG00000073898
AA Change: M67I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	316	4.4e-57	PFAM
Pfam:7tm_1	49	298	2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213623
AA Change: M60I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3768

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109 (GRCm38)	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367 (GRCm38)	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669 (GRCm38)	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046 (GRCm38)	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691 (GRCm38)	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259 (GRCm38)	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400 (GRCm38)	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726 (GRCm38)	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218 (GRCm38)	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912 (GRCm38)	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932 (GRCm38)	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281 (GRCm38)	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671 (GRCm38)	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513 (GRCm38)	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543 (GRCm38)		probably null	Het
Coq10b	T	C	1: 55,052,918 (GRCm38)	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749 (GRCm38)	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204 (GRCm38)	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393 (GRCm38)		probably null	Het
Dhx35	G	T	2: 158,842,869 (GRCm38)	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664 (GRCm38)	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481 (GRCm38)	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283 (GRCm38)		probably null	Het
Dst	T	A	1: 34,160,372 (GRCm38)		probably benign	Het
Ehbp1	C	A	11: 22,151,887 (GRCm38)	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971 (GRCm38)	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091 (GRCm38)	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568 (GRCm38)	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923 (GRCm38)		probably null	Het
Gprin1	G	A	13: 54,739,978 (GRCm38)	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149 (GRCm38)	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550 (GRCm38)	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473 (GRCm38)	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827 (GRCm38)	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360 (GRCm38)	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732 (GRCm38)	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460 (GRCm38)	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414 (GRCm38)	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945 (GRCm38)	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274 (GRCm38)		probably null	Het
Mroh7	T	C	4: 106,720,926 (GRCm38)	N185S	probably benign	Het
Muc2	G	A	7: 141,751,406 (GRCm38)	G149D	probably damaging	Het
Muc2	A	G	7: 141,697,250 (GRCm38)		probably null	Het
Nlrp3	T	C	11: 59,548,971 (GRCm38)	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831 (GRCm38)	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203 (GRCm38)	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562 (GRCm38)	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547 (GRCm38)	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192 (GRCm38)	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840 (GRCm38)	H242R	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
Ovch2	G	A	7: 107,794,388 (GRCm38)	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171 (GRCm38)	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991 (GRCm38)	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746 (GRCm38)	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274 (GRCm38)	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372 (GRCm38)	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053 (GRCm38)	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305 (GRCm38)	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223 (GRCm38)	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759 (GRCm38)		probably benign	Het
Rgl1	A	G	1: 152,557,493 (GRCm38)	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435 (GRCm38)	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343 (GRCm38)	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223 (GRCm38)	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136 (GRCm38)	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053 (GRCm38)	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463 (GRCm38)	N851K	probably benign	Het
Smox	G	A	2: 131,516,414 (GRCm38)	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693 (GRCm38)	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588 (GRCm38)	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411 (GRCm38)	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479 (GRCm38)	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160 (GRCm38)	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744 (GRCm38)	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239 (GRCm38)	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083 (GRCm38)	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002 (GRCm38)	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382 (GRCm38)	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065 (GRCm38)	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335 (GRCm38)	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446 (GRCm38)	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040 (GRCm38)		probably benign	Het
Zfp213	C	A	17: 23,557,911 (GRCm38)	E386*	probably null	Het

Other mutations in Olfr713

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Olfr713	APN	7	107,036,847 (GRCm38)	missense	probably damaging	0.99
IGL01630:Olfr713	APN	7	107,037,111 (GRCm38)	utr 3 prime	probably benign
IGL02539:Olfr713	APN	7	107,036,434 (GRCm38)	missense	probably damaging	1.00
IGL02727:Olfr713	APN	7	107,036,695 (GRCm38)	missense	probably damaging	1.00
IGL03336:Olfr713	APN	7	107,036,335 (GRCm38)	missense	probably damaging	1.00
R0501:Olfr713	UTSW	7	107,036,232 (GRCm38)	missense	probably benign
R0684:Olfr713	UTSW	7	107,036,682 (GRCm38)	missense	probably damaging	1.00
R0909:Olfr713	UTSW	7	107,036,194 (GRCm38)	missense	probably benign	0.19
R1481:Olfr713	UTSW	7	107,036,149 (GRCm38)	missense	probably benign	0.05
R1958:Olfr713	UTSW	7	107,036,271 (GRCm38)	missense	possibly damaging	0.77
R1965:Olfr713	UTSW	7	107,036,358 (GRCm38)	missense	probably damaging	1.00
R2119:Olfr713	UTSW	7	107,036,731 (GRCm38)	missense	probably damaging	1.00
R2149:Olfr713	UTSW	7	107,036,338 (GRCm38)	missense	possibly damaging	0.68
R3012:Olfr713	UTSW	7	107,036,362 (GRCm38)	missense	possibly damaging	0.79
R3428:Olfr713	UTSW	7	107,036,716 (GRCm38)	missense	probably benign
R4425:Olfr713	UTSW	7	107,036,491 (GRCm38)	missense	probably damaging	1.00
R4795:Olfr713	UTSW	7	107,036,914 (GRCm38)	missense	probably benign	0.00
R4796:Olfr713	UTSW	7	107,036,914 (GRCm38)	missense	probably benign	0.00
R4908:Olfr713	UTSW	7	107,036,157 (GRCm38)	start codon destroyed	probably benign	0.02
R4945:Olfr713	UTSW	7	107,036,319 (GRCm38)	missense	probably benign	0.00
R5122:Olfr713	UTSW	7	107,036,848 (GRCm38)	nonsense	probably null
R5721:Olfr713	UTSW	7	107,036,358 (GRCm38)	missense	probably damaging	1.00
R6739:Olfr713	UTSW	7	107,036,811 (GRCm38)	missense	probably damaging	1.00
R6981:Olfr713	UTSW	7	107,036,749 (GRCm38)	missense	possibly damaging	0.77
R7197:Olfr713	UTSW	7	107,036,157 (GRCm38)	missense	probably benign	0.03
R7228:Olfr713	UTSW	7	107,037,100 (GRCm38)	missense	probably benign
R7444:Olfr713	UTSW	7	107,036,347 (GRCm38)	missense	probably damaging	1.00
R8830:Olfr713	UTSW	7	107,036,682 (GRCm38)	missense	probably benign	0.28
R9109:Olfr713	UTSW	7	107,036,433 (GRCm38)	missense	probably damaging	1.00
R9298:Olfr713	UTSW	7	107,036,433 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTCATTCCCATGGCTACAG -3'
(R):5'- GACTGCAGATGGCCACATAG -3'

Sequencing Primer
(F):5'- TTCCCATGGCTACAGGAAAC -3'
(R):5'- CACATAGCGGTCATATGCCATGG -3'

Posted On

2017-06-26