Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Olfr1297'

457150

Institutional Source

Beutler Lab

Gene Symbol

Olfr1297

Ensembl Gene

ENSMUSG00000094858

Gene Name

olfactory receptor 1297

Synonyms

GA_x6K02T2Q125-72673494-72672556, MOR248-4

MMRRC Submission

044092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111615233-111626497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111621433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 214 (L214M)

Ref Sequence

ENSEMBL: ENSMUSP00000150543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099612] [ENSMUST00000207283] [ENSMUST00000213398]

AlphaFold

Q8VGE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099612
AA Change: L214M

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

SMART Domains

Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: L214M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.8e-48	PFAM
Pfam:7tm_1	41	287	6.7e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207283
AA Change: L214M

Predicted Effect

probably damaging
Transcript: ENSMUST00000213398
AA Change: L214M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,188,589	I828V	probably benign	Het
A430105I19Rik	T	A	2: 118,761,383	D92V	probably damaging	Het
Abi3bp	A	T	16: 56,606,133	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,682,313	R387L	possibly damaging	Het
Adgb	G	A	10: 10,377,847	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,334,863	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,347,977	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,559,977	E69D	possibly damaging	Het
Atm	T	C	9: 53,497,159	T1129A	probably benign	Het
AU021092	T	C	16: 5,212,131	D340G	probably benign	Het
Baz2a	T	A	10: 128,121,322	I978N	probably damaging	Het
BC034090	T	C	1: 155,233,047		probably benign	Het
Bcl9	A	G	3: 97,208,888	L830P	probably damaging	Het
Bicral	T	C	17: 46,801,229	N1015S	probably benign	Het
Ceacam3	C	A	7: 17,151,793	T107N	probably damaging	Het
Cep83	T	C	10: 94,725,675	V109A	probably benign	Het
Ces1e	A	G	8: 93,203,266	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,247,134	V55A	probably benign	Het
Col19a1	T	C	1: 24,289,725	E900G	probably damaging	Het
Commd3	A	G	2: 18,673,815		probably benign	Het
Coro1c	A	G	5: 113,850,811	I157T	probably damaging	Het
Ctso	T	A	3: 81,954,254	F311L	probably benign	Het
Cxcl10	A	G	5: 92,348,224		probably benign	Het
Daam1	C	A	12: 71,944,149	T179N	unknown	Het
Ddx24	T	C	12: 103,424,058	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,775,392	T278A	probably benign	Het
Dnajc2	A	T	5: 21,761,711	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,311,812	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,614,220		probably null	Het
Exoc1	A	G	5: 76,542,144	D177G	probably damaging	Het
Fam135b	C	T	15: 71,525,803	R136H	probably damaging	Het
Fam214a	C	G	9: 75,004,386	C46W	probably damaging	Het
Filip1	T	G	9: 79,819,860	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,796,228	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,707,443	W366R	probably damaging	Het
Htt	A	G	5: 34,870,823	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,597,629	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,360,690	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,425		probably benign	Het
Kif13b	T	G	14: 64,788,405		probably null	Het
Klkb1	T	A	8: 45,270,666	T571S	probably benign	Het
Mapkbp1	G	T	2: 120,023,932	E1337*	probably null	Het
Met	A	G	6: 17,491,539	D100G	probably benign	Het
Mgam	T	A	6: 40,744,348	D183E	probably benign	Het
Mrgprb13	T	C	7: 48,312,259		noncoding transcript	Het
Mrgprx2	T	C	7: 48,482,246	T275A	probably benign	Het
Mroh2a	C	A	1: 88,241,615	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,808,609	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,219,259		probably benign	Het
Olfr361	T	A	2: 37,084,978	M257L	probably benign	Het
Olfr467	C	T	7: 107,815,180	P199S	probably damaging	Het
Olfr527	C	T	7: 140,336,600	T246I	probably benign	Het
Otoa	T	A	7: 121,132,360		probably null	Het
Pfkm	T	A	15: 98,122,690	C233*	probably null	Het
Pikfyve	A	G	1: 65,202,737	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,576,895	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,582,440		probably benign	Het
Rab6a	T	A	7: 100,639,247		probably null	Het
Rbm11	C	T	16: 75,598,837	A132V	possibly damaging	Het
Sept4	G	T	11: 87,588,924		probably benign	Het
Serpinb8	A	G	1: 107,605,845	E210G	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Slco5a1	A	G	1: 12,990,402	F32L	probably benign	Het
Smad2	A	G	18: 76,299,975	E326G	probably damaging	Het
Sp9	T	A	2: 73,274,251	L383Q	probably damaging	Het
Stx11	T	C	10: 12,941,815	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,220,308	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,637,051		probably benign	Het
Tdrd9	T	A	12: 112,042,719	S1020T	probably damaging	Het
Tead3	A	T	17: 28,341,365	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,815,171	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,671,022	D268E	probably damaging	Het
Ttn	A	G	2: 76,745,741	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,408,626	Y908*	probably null	Het
Urb2	G	T	8: 124,030,856	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,084,900	H188L	probably benign	Het
Zfp518a	T	A	19: 40,912,433	C269S	probably damaging	Het
Zfp933	T	C	4: 147,826,774	K90E	probably benign	Het

Other mutations in Olfr1297

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Olfr1297	APN	2	111621340	missense	probably damaging	1.00
IGL01305:Olfr1297	APN	2	111621201	missense	probably damaging	1.00
IGL01903:Olfr1297	APN	2	111621658	missense	probably benign	0.01
IGL01984:Olfr1297	APN	2	111621582	missense	probably benign	0.34
IGL03065:Olfr1297	APN	2	111621190	missense	probably damaging	0.98
ANU22:Olfr1297	UTSW	2	111621201	missense	probably damaging	1.00
R0313:Olfr1297	UTSW	2	111621600	missense	possibly damaging	0.77
R0615:Olfr1297	UTSW	2	111621919	missense	possibly damaging	0.95
R1028:Olfr1297	UTSW	2	111621525	missense	probably damaging	1.00
R1078:Olfr1297	UTSW	2	111621345	missense	probably damaging	1.00
R1158:Olfr1297	UTSW	2	111621741	missense	probably damaging	1.00
R1419:Olfr1297	UTSW	2	111621295	missense	probably benign	0.05
R1980:Olfr1297	UTSW	2	111621241	missense	probably benign	0.00
R1981:Olfr1297	UTSW	2	111621241	missense	probably benign	0.00
R2044:Olfr1297	UTSW	2	111621814	missense	probably benign	0.02
R2080:Olfr1297	UTSW	2	111621739	missense	probably benign
R2170:Olfr1297	UTSW	2	111621600	missense	possibly damaging	0.77
R4494:Olfr1297	UTSW	2	111621148	nonsense	probably null
R4965:Olfr1297	UTSW	2	111621534	missense	probably damaging	1.00
R5175:Olfr1297	UTSW	2	111621426	missense	possibly damaging	0.78
R6192:Olfr1297	UTSW	2	111621175	missense	possibly damaging	0.91
R6383:Olfr1297	UTSW	2	111621186	missense	probably benign	0.10
R6730:Olfr1297	UTSW	2	111621735	missense	probably damaging	0.96
R7189:Olfr1297	UTSW	2	111621193	missense	probably benign	0.03
R7193:Olfr1297	UTSW	2	111621255	missense	probably damaging	1.00
R7199:Olfr1297	UTSW	2	111621193	missense	probably benign	0.01
R7735:Olfr1297	UTSW	2	111621474	missense	probably damaging	1.00
R8017:Olfr1297	UTSW	2	111622067	missense	probably benign	0.00
R8019:Olfr1297	UTSW	2	111622067	missense	probably benign	0.00
R8285:Olfr1297	UTSW	2	111622045	missense	probably benign	0.32
R8419:Olfr1297	UTSW	2	111621504	missense	probably benign	0.10
R9258:Olfr1297	UTSW	2	111621984	missense	possibly damaging	0.77
X0063:Olfr1297	UTSW	2	111621381	missense	probably benign	0.04
Z1176:Olfr1297	UTSW	2	111621261	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAAATTTGTCCAACCAGGTG -3'
(R):5'- ACTTGAAGAGGTGCACTGG -3'

Sequencing Primer
(F):5'- TCCAACCAGGTGATATTTAGGG -3'
(R):5'- GGCTTTTTACATGGTATAAGTCACG -3'

Posted On

2017-02-15