Mutagenetix > Incidental Mutation

Incidental Mutation 'R0132:Olfr372'

60533

Institutional Source

Beutler Lab

Gene Symbol

Olfr372

Ensembl Gene

ENSMUSG00000069998

Gene Name

olfactory receptor 372

Synonyms

GA_x6K02T2NUPS-191522-192466, MOR282-1

MMRRC Submission

038417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0132 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72041218-72060630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72058400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 240 (T240M)

Ref Sequence

ENSEMBL: ENSMUSP00000149288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093434] [ENSMUST00000215324]

AlphaFold

Q7TRY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000093434
AA Change: T240M

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

SMART Domains

Protein: ENSMUSP00000132724
Gene: ENSMUSG00000069998
AA Change: T240M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	221	1.1e-7	PFAM
Pfam:7tm_1	41	290	6.4e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215324
AA Change: T240M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.2%
20x: 84.8%

Validation Efficiency

90% (52/58)

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
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Dazap1	T	G	10: 80,278,226		probably null	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
H2-T24	T	A	17: 36,014,986	I238F	probably damaging	Het
Hectd4	A	G	5: 121,333,024	E2658G	probably benign	Het
Herc1	A	C	9: 66,480,910	I3826L	probably benign	Het
Hinfp	A	G	9: 44,299,763	C67R	probably damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Hspg2	T	C	4: 137,551,887	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,926,728	V67A	probably damaging	Het
Iqcc	T	G	4: 129,616,599	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,326,198	T120A	probably damaging	Het
Kitl	C	T	10: 100,087,364	P208S	probably benign	Het
Lpcat4	A	G	2: 112,246,748	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,553,152	N227S	probably damaging	Het
Mdc1	T	A	17: 35,852,581	V1007D	probably damaging	Het
Mocos	T	G	18: 24,679,762	I571S	probably benign	Het
Myh8	A	G	11: 67,292,188	N659D	probably damaging	Het
Naip2	A	G	13: 100,183,788	V240A	probably benign	Het
Nap1l1	T	C	10: 111,485,509	S37P	probably benign	Het
Nin	T	G	12: 70,051,141	K515T	probably damaging	Het
Npl	T	A	1: 153,509,118	K258*	probably null	Het
Ntn4	T	A	10: 93,644,707	S98T	possibly damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,722,091	F57V	probably damaging	Het
Ptprt	C	T	2: 162,278,110	V146I	probably benign	Het
R3hdm2	T	A	10: 127,498,453	M915K	probably damaging	Het
Rab26	C	T	17: 24,530,785		probably null	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Rprd2	T	C	3: 95,774,361	K407E	probably damaging	Het
Siah3	G	A	14: 75,456,134	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc25a35	A	G	11: 68,971,960	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Slc35d1	C	T	4: 103,208,181	V189I	probably benign	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tmem260	T	A	14: 48,483,322	C306*	probably null	Het
Tspyl1	A	G	10: 34,283,089	N270S	probably damaging	Het
Ugt2a2	T	A	5: 87,474,861	K293*	probably null	Het
Vmn2r102	A	C	17: 19,678,763	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,712,249	S139R	probably benign	Het
Zmym2	A	G	14: 56,943,258	N876D	probably benign	Het

Other mutations in Olfr372

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03251:Olfr372	APN	8	72,058,076 (GRCm38)	missense	probably damaging	1.00
R0126:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0128:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0130:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0131:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0131:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0152:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0230:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0244:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0256:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0257:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0294:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0316:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0318:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0391:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0479:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0604:Olfr372	UTSW	8	72,058,400 (GRCm38)	missense	probably damaging	1.00
R0624:Olfr372	UTSW	8	72,058,162 (GRCm38)	missense	possibly damaging	0.94
R0631:Olfr372	UTSW	8	72,058,322 (GRCm38)	missense	probably damaging	0.99
R1785:Olfr372	UTSW	8	72,058,436 (GRCm38)	missense	probably damaging	1.00
R1786:Olfr372	UTSW	8	72,058,436 (GRCm38)	missense	probably damaging	1.00
R2040:Olfr372	UTSW	8	72,057,763 (GRCm38)	missense	possibly damaging	0.77
R4176:Olfr372	UTSW	8	72,058,184 (GRCm38)	missense	probably damaging	1.00
R4782:Olfr372	UTSW	8	72,058,094 (GRCm38)	missense	probably benign	0.00
R4799:Olfr372	UTSW	8	72,058,094 (GRCm38)	missense	probably benign	0.00
R6915:Olfr372	UTSW	8	72,057,730 (GRCm38)	missense	probably benign	0.19
R7512:Olfr372	UTSW	8	72,058,523 (GRCm38)	missense	probably damaging	1.00
R8255:Olfr372	UTSW	8	72,057,763 (GRCm38)	missense	possibly damaging	0.77
R9619:Olfr372	UTSW	8	72,057,761 (GRCm38)	missense	probably damaging	1.00
RF022:Olfr372	UTSW	8	72,058,624 (GRCm38)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTCATGTGCAGACACATCAGCC -3'
(R):5'- GGATCGAAGGACATCATCGCTTCAC -3'

Sequencing Primer
(F):5'- ACATCAGCCTATGAGTTGGCG -3'
(R):5'- CAAGGACATTCGAACTTCTCTG -3'

Posted On

2013-07-24