Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Olfr372'

60468

Institutional Source

Beutler Lab

Gene Symbol

Olfr372

Ensembl Gene

ENSMUSG00000069998

Gene Name

olfactory receptor 372

Synonyms

GA_x6K02T2NUPS-191522-192466, MOR282-1

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R0131 (G1)

Quality Score

223

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: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abca8b	T	A	11: 109,942,289	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,502,995		probably benign	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Arntl2	C	A	6: 146,828,103	H471N	probably benign	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bicd1	A	G	6: 149,512,947	E386G	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Cacna1c	T	C	6: 118,625,512	I1428V	probably damaging	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Cldnd1	T	C	16: 58,732,992	L232P	probably damaging	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Col3a1	T	A	1: 45,328,868		probably benign	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Cyc1	G	A	15: 76,344,959	V142I	probably benign	Het
Dapk3	A	G	10: 81,192,307	T265A	probably benign	Het
Ddx21	A	T	10: 62,584,752	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,138,649	L1735Q	probably damaging	Het
Dse	A	G	10: 34,153,664	Y341H	probably damaging	Het
Elmod2	A	G	8: 83,319,504	I148T	probably damaging	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659	D98G	probably damaging	Het
Fcrls	A	G	3: 87,258,959	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,991,121	D5733N	probably benign	Het
Gbe1	T	C	16: 70,360,852		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
Gm6327	T	C	16: 12,761,045		noncoding transcript	Het
Gm9745	T	A	13: 8,940,527		probably benign	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
Kmt2b	A	T	7: 30,583,921	C296S	probably damaging	Het
Lgals4	A	G	7: 28,834,232		probably null	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
Mylk	T	C	16: 34,875,504	V203A	probably benign	Het
Myom2	A	G	8: 15,083,329	N407S	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
Olfr1037	T	C	2: 86,085,500	I92M	probably damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Olfr720	T	C	14: 14,175,620	D154G	probably benign	Het
Pate3	A	G	9: 35,646,157	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,170,608	D106G	probably null	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Proc	C	T	18: 32,135,898	M11I	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Psg21	A	G	7: 18,654,868	Y100H	probably benign	Het
Pten	T	A	19: 32,776,069	V45E	probably benign	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
Rab7b	T	C	1: 131,698,555	L107P	probably damaging	Het
Rbm47	T	A	5: 66,026,529	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,605,344	G122C	probably damaging	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
Slc12a3	G	A	8: 94,340,883		probably benign	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	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
Spg11	T	C	2: 122,070,968	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tet3	C	G	6: 83,368,788	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,132,816	S693P	probably benign	Het
Tmcc2	C	T	1: 132,380,706	G150D	probably benign	Het
Tmem216	T	C	19: 10,554,606	Y44C	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
Ubr4	A	G	4: 139,464,051	T4127A	possibly 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
Wrnip1	G	A	13: 32,806,864	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,126,623	I305F	possibly damaging	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	72058076	missense	probably damaging	1.00
R0126:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0128:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0130:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0131:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0132:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0152:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0230:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0244:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0256:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0257:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0294:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0316:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0318:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0391:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0479:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0604:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0624:Olfr372	UTSW	8	72058162	missense	possibly damaging	0.94
R0631:Olfr372	UTSW	8	72058322	missense	probably damaging	0.99
R1785:Olfr372	UTSW	8	72058436	missense	probably damaging	1.00
R1786:Olfr372	UTSW	8	72058436	missense	probably damaging	1.00
R2040:Olfr372	UTSW	8	72057763	missense	possibly damaging	0.77
R4176:Olfr372	UTSW	8	72058184	missense	probably damaging	1.00
R4782:Olfr372	UTSW	8	72058094	missense	probably benign	0.00
R4799:Olfr372	UTSW	8	72058094	missense	probably benign	0.00
R6915:Olfr372	UTSW	8	72057730	missense	probably benign	0.19
R7512:Olfr372	UTSW	8	72058523	missense	probably damaging	1.00
R8255:Olfr372	UTSW	8	72057763	missense	possibly damaging	0.77
R9619:Olfr372	UTSW	8	72057761	missense	probably damaging	1.00
RF022:Olfr372	UTSW	8	72058624	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

2013-07-23