Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Olfr1294'

589673

Institutional Source

Beutler Lab

Gene Symbol

Olfr1294

Ensembl Gene

ENSMUSG00000109547

Gene Name

olfactory receptor 1294

Synonyms

GA_x6K02T2Q125-72589785-72588847, MOR248-7

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111536530-111540291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111538176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 38 (I38V)

Ref Sequence

ENSEMBL: ENSMUSP00000146438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208334] [ENSMUST00000208675] [ENSMUST00000215245]

AlphaFold

Q8VGE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208334
AA Change: I38V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208675
AA Change: I38V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000215245

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Naca	T	C	10: 128,040,506	V469A	unknown	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Snx33	A	T	9: 56,926,418	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	probably benign	Het

Other mutations in Olfr1294

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Olfr1294	APN	2	111538014	missense	probably damaging	1.00
IGL02304:Olfr1294	APN	2	111537401	missense	probably benign	0.06
IGL02555:Olfr1294	APN	2	111537917	missense	probably damaging	0.98
R0422:Olfr1294	UTSW	2	111537983	missense	probably damaging	0.97
R0647:Olfr1294	UTSW	2	111537359	missense	probably benign	0.00
R0656:Olfr1294	UTSW	2	111537627	missense	probably damaging	1.00
R1543:Olfr1294	UTSW	2	111537797	missense	probably benign	0.00
R1909:Olfr1294	UTSW	2	111538014	missense	probably damaging	1.00
R3735:Olfr1294	UTSW	2	111537896	missense	probably damaging	1.00
R4671:Olfr1294	UTSW	2	111537935	missense	probably damaging	1.00
R4703:Olfr1294	UTSW	2	111537768	missense	probably benign	0.03
R4809:Olfr1294	UTSW	2	111537611	missense	probably benign	0.15
R4822:Olfr1294	UTSW	2	111537452	missense	probably damaging	0.98
R4837:Olfr1294	UTSW	2	111537974	missense	probably damaging	0.98
R4880:Olfr1294	UTSW	2	111537353	nonsense	probably null
R5203:Olfr1294	UTSW	2	111537636	missense	probably damaging	1.00
R5871:Olfr1294	UTSW	2	111537639	missense	probably damaging	1.00
R5902:Olfr1294	UTSW	2	111537394	missense	probably benign	0.00
R6501:Olfr1294	UTSW	2	111537779	missense	probably damaging	1.00
R7354:Olfr1294	UTSW	2	111537564	missense	possibly damaging	0.94
R7575:Olfr1294	UTSW	2	111538252	missense	probably damaging	1.00
R7623:Olfr1294	UTSW	2	111537936	missense	probably damaging	1.00
R7845:Olfr1294	UTSW	2	111538167	nonsense	probably null
R8130:Olfr1294	UTSW	2	111537480	missense	probably damaging	1.00
R9056:Olfr1294	UTSW	2	111538143	missense	probably benign	0.04
R9321:Olfr1294	UTSW	2	111538089	missense	probably damaging	1.00
Z1088:Olfr1294	UTSW	2	111537814	missense	possibly damaging	0.89
Z1176:Olfr1294	UTSW	2	111538285	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACATACATCCTGCAAAGG -3'
(R):5'- GCAATGTCACTCATATTTGGCTTAG -3'

Sequencing Primer
(F):5'- CATCCTGCAAAGGAAATGATCTTG -3'
(R):5'- AGTAGACTACCTCATACTTCTAATGG -3'

Posted On

2019-10-24