Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Olfr1257'

517845

Institutional Source

Beutler Lab

Gene Symbol

Olfr1257

Ensembl Gene

ENSMUSG00000049057

Gene Name

olfactory receptor 1257

Synonyms

MOR232-1, GA_x6K02T2Q125-51319458-51320387

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6415 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89878437-89883026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89880862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 12 (L12P)

Ref Sequence

ENSEMBL: ENSMUSP00000107144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060795] [ENSMUST00000111519]

AlphaFold

Q8VGP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000060795
AA Change: L12P

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

SMART Domains

Protein: ENSMUSP00000056439
Gene: ENSMUSG00000049057
AA Change: L12P

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	2.6e-31	PFAM
Pfam:7tm_4	137	278	8e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111519
AA Change: L12P

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

SMART Domains

Protein: ENSMUSP00000107144
Gene: ENSMUSG00000049057
AA Change: L12P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.5e-49	PFAM
Pfam:7tm_1	39	285	3.9e-18	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

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
2810403A07Rik	T	C	3: 88,699,972	F328L	probably benign	Het
4930563M21Rik	G	A	9: 55,974,012	T482M	probably benign	Het
9030624J02Rik	T	C	7: 118,792,646	W494R	probably damaging	Het
Adam9	A	G	8: 24,978,482	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,324,659		probably null	Het
B3gnt5	A	G	16: 19,770,009	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,463,417	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,161,746	I402M	probably benign	Het
Cckar	A	T	5: 53,703,056	C73S	probably damaging	Het
Cdk13	C	T	13: 17,739,154	R880H	probably damaging	Het
Col1a1	A	G	11: 94,940,160	N218D	unknown	Het
Csnk1g2	T	C	10: 80,638,296	I145T	possibly damaging	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,842,921	F483L	probably benign	Het
Ddx60	A	G	8: 61,983,905	D963G	probably benign	Het
Dhx8	G	T	11: 101,737,687	A142S	unknown	Het
Dock7	C	T	4: 98,992,448	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,683,677	Q693*	probably null	Het
Dysf	G	A	6: 84,140,042	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,355,177		probably null	Het
Fam91a1	T	C	15: 58,442,917	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,403,294	Y5N	possibly damaging	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,750,506	D192V	possibly damaging	Het
Gps1	T	C	11: 120,787,722	V286A	possibly damaging	Het
Grk1	A	G	8: 13,413,127	Y383C	probably damaging	Het
Hic1	G	A	11: 75,166,317	P582L	possibly damaging	Het
Hist1h2bn	T	C	13: 21,754,486	Y122H	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Lactb	T	C	9: 66,970,645	K301E	possibly damaging	Het
Lrp3	A	T	7: 35,204,168	V251E	probably benign	Het
Mapt	G	A	11: 104,298,998	G265S	probably benign	Het
Obscn	A	T	11: 59,035,130	D6245E	probably damaging	Het
Olfr118	G	T	17: 37,672,557	C178F	possibly damaging	Het
Olfr1273-ps	T	A	2: 90,296,037	I275F	probably damaging	Het
Olfr340	A	G	2: 36,452,605	S7G	probably damaging	Het
Olfr58	T	A	9: 19,783,748	I205N	probably damaging	Het
Olfr777	T	C	10: 129,269,021	T101A	probably benign	Het
Olfr832	T	C	9: 18,945,119	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,015,842	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 36,994,561	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,207,568	I323N	probably benign	Het
Plin4	A	G	17: 56,103,264	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,462,834		probably benign	Het
Ppil2	A	G	16: 17,103,574		probably null	Het
Prelp	A	T	1: 133,912,778	I322N	probably benign	Het
Prelp	A	T	1: 133,914,657	I250N	probably damaging	Het
Prss27	T	A	17: 24,042,908	C63*	probably null	Het
Rab38	G	A	7: 88,430,540	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,774,219	A436V	probably benign	Het
Sacs	A	T	14: 61,205,359	N1618I	probably damaging	Het
Scp2	T	G	4: 108,105,140	S63R	probably benign	Het
Sftpb	T	G	6: 72,304,649	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,834,689	L125*	probably null	Het
Sptlc1	T	C	13: 53,351,692		probably null	Het
Sub1	T	A	15: 11,986,474	M96L	probably benign	Het
Tanc1	T	C	2: 59,837,114	V1233A	probably benign	Het
Tmem140	A	T	6: 34,872,723	D58V	probably damaging	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Tpt1	T	C	14: 75,846,371	Y91H	probably benign	Het
Trap1	C	T	16: 4,043,992	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,803,575	H275R	possibly damaging	Het
Zbtb44	T	A	9: 31,064,214	I380N	possibly damaging	Het
Zcchc6	T	A	13: 59,816,296		probably null	Het
Zswim5	T	C	4: 116,980,866	F798L	possibly damaging	Het

Other mutations in Olfr1257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Olfr1257	APN	2	89881662	missense	probably benign	0.02
IGL01641:Olfr1257	APN	2	89881608	missense	probably benign	0.01
IGL01668:Olfr1257	APN	2	89881099	missense	probably benign	0.01
IGL01901:Olfr1257	APN	2	89881482	missense	probably damaging	1.00
IGL02401:Olfr1257	APN	2	89881453	missense	probably damaging	1.00
IGL02472:Olfr1257	APN	2	89881411	missense	probably benign	0.44
IGL02631:Olfr1257	APN	2	89881255	missense	possibly damaging	0.95
PIT4354001:Olfr1257	UTSW	2	89881508	missense	probably benign	0.04
R0552:Olfr1257	UTSW	2	89880891	nonsense	probably null
R0616:Olfr1257	UTSW	2	89881591	missense	probably benign	0.07
R0943:Olfr1257	UTSW	2	89880961	missense	probably benign	0.11
R1146:Olfr1257	UTSW	2	89881206	missense	probably damaging	1.00
R1146:Olfr1257	UTSW	2	89881206	missense	probably damaging	1.00
R1314:Olfr1257	UTSW	2	89880877	missense	probably benign	0.35
R1641:Olfr1257	UTSW	2	89881401	missense	probably benign	0.07
R1763:Olfr1257	UTSW	2	89881129	missense	probably damaging	0.99
R1836:Olfr1257	UTSW	2	89881285	missense	probably damaging	1.00
R2125:Olfr1257	UTSW	2	89881638	missense	probably benign
R4322:Olfr1257	UTSW	2	89881734	missense	probably benign	0.07
R4897:Olfr1257	UTSW	2	89881132	missense	probably benign	0.39
R5446:Olfr1257	UTSW	2	89881549	missense	probably damaging	1.00
R5456:Olfr1257	UTSW	2	89881258	missense	probably damaging	0.97
R6905:Olfr1257	UTSW	2	89881708	missense	probably benign	0.05
R7170:Olfr1257	UTSW	2	89880841	missense	probably benign	0.12
R7170:Olfr1257	UTSW	2	89881053	missense	possibly damaging	0.70
R7411:Olfr1257	UTSW	2	89881261	missense	probably damaging	0.98
R8171:Olfr1257	UTSW	2	89881065	missense	probably benign	0.05
R8490:Olfr1257	UTSW	2	89881167	missense	probably damaging	1.00
R9176:Olfr1257	UTSW	2	89881171	missense	probably benign	0.05
R9204:Olfr1257	UTSW	2	89881138	missense	probably damaging	1.00
R9751:Olfr1257	UTSW	2	89881612	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTCCCGCACACTTATAAAAGTTCC -3'
(R):5'- TCAGTTTAGGGGTGCTAACAG -3'

Sequencing Primer
(F):5'- TTAACAGAGTTGTCACCTAAAAACCG -3'
(R):5'- TGCTAACAGAGGAATAGCAAGCATC -3'

Posted On

2018-05-24