Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Olfr1378'

428434

Institutional Source

Beutler Lab

Gene Symbol

Olfr1378

Ensembl Gene

ENSMUSG00000050343

Gene Name

olfactory receptor 1378

Synonyms

GA_x6K02T2QP88-4469162-4468215, MOR129-2

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50966530-50973113 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50969108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 30 (M30T)

Ref Sequence

ENSEMBL: ENSMUSP00000149432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052285] [ENSMUST00000213259]

AlphaFold

Q8VGH0

Predicted Effect

probably benign
Transcript: ENSMUST00000052285
AA Change: M30T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000058119
Gene: ENSMUSG00000050343
AA Change: M30T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.1e-54	PFAM
Pfam:7tm_1	41	289	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213259
AA Change: M30T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Olfr1378

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Olfr1378	APN	11	50969119	missense	probably benign	0.00
PIT4243001:Olfr1378	UTSW	11	50969552	missense	probably damaging	1.00
R0540:Olfr1378	UTSW	11	50969843	missense	possibly damaging	0.96
R0607:Olfr1378	UTSW	11	50969843	missense	possibly damaging	0.96
R0699:Olfr1378	UTSW	11	50969818	missense	probably damaging	1.00
R0719:Olfr1378	UTSW	11	50969934	nonsense	probably null
R2117:Olfr1378	UTSW	11	50969320	missense	probably damaging	0.98
R2263:Olfr1378	UTSW	11	50969869	missense	possibly damaging	0.75
R3402:Olfr1378	UTSW	11	50969068	missense	probably benign
R3767:Olfr1378	UTSW	11	50969558	missense	probably damaging	1.00
R3768:Olfr1378	UTSW	11	50969558	missense	probably damaging	1.00
R3769:Olfr1378	UTSW	11	50969558	missense	probably damaging	1.00
R4293:Olfr1378	UTSW	11	50969426	missense	probably damaging	1.00
R4409:Olfr1378	UTSW	11	50969396	missense	probably damaging	1.00
R4446:Olfr1378	UTSW	11	50969863	missense	probably damaging	1.00
R4731:Olfr1378	UTSW	11	50969266	missense	possibly damaging	0.78
R4732:Olfr1378	UTSW	11	50969266	missense	possibly damaging	0.78
R4733:Olfr1378	UTSW	11	50969266	missense	possibly damaging	0.78
R6085:Olfr1378	UTSW	11	50969123	missense
R6648:Olfr1378	UTSW	11	50969173	missense	probably damaging	1.00
R7419:Olfr1378	UTSW	11	50969325	nonsense	probably null
R7686:Olfr1378	UTSW	11	50969755	missense	possibly damaging	0.92
R8440:Olfr1378	UTSW	11	50969197	missense	probably damaging	1.00
R9408:Olfr1378	UTSW	11	50969786	missense	probably damaging	1.00
R9451:Olfr1378	UTSW	11	50969123	missense
R9663:Olfr1378	UTSW	11	50969338	missense	probably benign	0.15
R9711:Olfr1378	UTSW	11	50969489	missense	probably damaging	1.00
X0011:Olfr1378	UTSW	11	50969654	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CACGGTCACTGCAATCAAAG -3'
(R):5'- CATGTAGTTCACCAGAGCCTTGG -3'

Sequencing Primer
(F):5'- CGGTCACTGCAATCAAAGTAAAG -3'
(R):5'- CCTTGGGGACAGTGACTGAG -3'

Posted On

2016-09-01