Mutagenetix > Incidental Mutation

Incidental Mutation 'R7193:Olfr1297'

559703

Institutional Source

Beutler Lab

Gene Symbol

Olfr1297

Ensembl Gene

ENSMUSG00000094858

Gene Name

olfactory receptor 1297

Synonyms

GA_x6K02T2Q125-72673494-72672556, MOR248-4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111615233-111626497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111621255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 273 (V273E)

Ref Sequence

ENSEMBL: ENSMUSP00000150543 (fasta)

Gene Model

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

AlphaFold

Q8VGE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099612
AA Change: V273E

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

SMART Domains

Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: V273E

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

probably damaging
Transcript: ENSMUST00000213398
AA Change: V273E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,219,189		probably null	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca16	T	C	7: 120,427,186	S124P	probably damaging	Het
Acan	A	T	7: 79,086,342	S179C	probably damaging	Het
Atg2b	A	C	12: 105,664,708	H319Q	probably damaging	Het
Bptf	G	A	11: 107,054,809	Q2535*	probably null	Het
Brpf3	T	C	17: 28,836,691	*1205R	probably null	Het
Cabyr	C	A	18: 12,751,758	P434Q	probably damaging	Het
Cacna1g	C	A	11: 94,409,231	D2268Y	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cct4	A	G	11: 22,997,111	T201A	probably benign	Het
Cdyl2	A	C	8: 116,623,994	S133A	probably benign	Het
Cep76	A	G	18: 67,641,134	L14P	possibly damaging	Het
Col4a3bp	T	A	13: 96,630,833		probably null	Het
Crybg3	A	T	16: 59,559,593	S433T	possibly damaging	Het
Cul9	T	C	17: 46,538,497	K574R	probably damaging	Het
Cyp2u1	T	C	3: 131,291,143	I527V	probably benign	Het
E130309D02Rik	A	G	5: 143,307,843	V293A	probably benign	Het
F5	A	G	1: 164,219,397	N2142S	probably damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Flnc	A	G	6: 29,450,871	Y1506C	probably damaging	Het
Foxred2	T	A	15: 77,952,030	S376C	probably damaging	Het
Gbe1	T	C	16: 70,495,370	L530P	probably damaging	Het
Gm8994	A	T	6: 136,329,215	I225F	probably damaging	Het
Hmcn1	T	C	1: 150,649,580	R3398G	probably null	Het
Igf1r	T	C	7: 68,187,157	L587P	probably damaging	Het
Kcna3	T	C	3: 107,036,537	Y39H	probably benign	Het
Krtap5-2	GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA	GCTACAGCCTCCCTTGCA	7: 142,175,243		probably benign	Het
Mbl1	T	C	14: 41,158,712	F186L	probably damaging	Het
Ncam2	A	T	16: 81,589,795	K687N	probably damaging	Het
Nedd4l	T	C	18: 64,997,370	V24A	probably damaging	Het
Nek1	A	G	8: 61,073,578	E661G	probably damaging	Het
Nudt14	G	T	12: 112,939,320	D28E	probably benign	Het
Olfr134	T	A	17: 38,175,096	I4N	probably benign	Het
Olfr344	T	A	2: 36,569,236	C213S	probably benign	Het
Olfr702	T	C	7: 106,824,591		probably benign	Het
Pdk4	A	T	6: 5,487,089	M319K	probably benign	Het
Pfkp	T	C	13: 6,593,216	N522S	probably benign	Het
Pias2	T	C	18: 77,120,121	V234A	possibly damaging	Het
Pik3c2b	C	A	1: 133,079,774	H625Q	probably benign	Het
Pnpla7	T	C	2: 25,051,615	S1117P	probably damaging	Het
Prdm2	A	T	4: 143,180,894	V36D	probably damaging	Het
Prep	C	T	10: 45,092,699	R98C	probably benign	Het
Rae1	T	C	2: 173,008,317		probably null	Het
Rgs3	T	A	4: 62,615,336	V138E	probably damaging	Het
Rnf185	T	C	11: 3,425,329	T142A	possibly damaging	Het
Rsph6a	C	A	7: 19,065,647	P401Q	probably damaging	Het
Runx3	A	T	4: 135,121,145	T14S	probably benign	Het
Scaf11	A	G	15: 96,419,161	S841P	probably damaging	Het
Spta1	T	A	1: 174,184,612	L328Q	probably damaging	Het
Sqor	G	A	2: 122,804,009	V318M	probably damaging	Het
Stox2	T	C	8: 47,186,454	T902A	probably benign	Het
Susd3	T	C	13: 49,231,203	H248R	probably damaging	Het
Syne1	T	C	10: 5,233,406	Y4133C	probably damaging	Het
Tbc1d20	C	T	2: 152,311,417	T289M	probably benign	Het
Unc80	T	A	1: 66,549,784	F1036Y	possibly damaging	Het
Zbtb7c	T	C	18: 76,137,938	C366R	probably damaging	Het
Zeb1	A	T	18: 5,772,756	D1015V	probably damaging	Het
Zfp606	T	G	7: 12,494,039	S696A	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
R5891:Olfr1297	UTSW	2	111621433	missense	probably damaging	1.00
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
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'- GATTCACAATGACCTGATAGCTC -3'
(R):5'- AAGCTAGCCTGCATGGATTCC -3'

Sequencing Primer
(F):5'- GCTCATCAGTAAATGCCATATTTTC -3'
(R):5'- GCATGGATTCCCAGGATTTAAATAC -3'

Posted On

2019-06-26