Mutagenetix > Incidental Mutations

Incidental Mutation 'R0541:Olfr38'

49903

Institutional Source

Beutler Lab

Gene Symbol

Olfr38

Ensembl Gene

ENSMUSG00000095236

Gene Name

olfactory receptor 38

Synonyms

MOR257-2, 18A, GA_x6K02T2P3E9-4797841-4796888

MMRRC Submission

038733-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0541 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

42756404-42763231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42762220 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 56 (H56R)

Ref Sequence

ENSEMBL: ENSMUSP00000149726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074499
AA Change: H56R

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

SMART Domains

Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: H56R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.8e-52	PFAM
Pfam:7tm_1	41	290	5.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215796
AA Change: H56R

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

Meta Mutation Damage Score

0.3626

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 131,139,143	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,587,400		probably null	Het
Abca7	C	T	10: 80,007,351	A1220V	probably benign	Het
Adamts19	G	A	18: 58,927,300		probably null	Het
Agbl1	G	A	7: 76,409,245	V194M	probably benign	Het
Arhgap20	G	T	9: 51,849,663	S902I	probably damaging	Het
Atp11b	T	G	3: 35,806,944	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,644,604		probably benign	Het
C2cd2	T	C	16: 97,922,296	E7G	possibly damaging	Het
Camta2	A	G	11: 70,681,621	L259P	probably benign	Het
Ccni	T	C	5: 93,187,704	N192D	probably benign	Het
Cgnl1	A	G	9: 71,651,253	I946T	possibly damaging	Het
Chil3	T	C	3: 106,161,232		probably null	Het
Cntn5	A	G	9: 9,673,402		probably benign	Het
Cpn2	C	T	16: 30,259,351	G511S	possibly damaging	Het
Dagla	C	A	19: 10,254,806		probably null	Het
Dcc	T	C	18: 71,259,015	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,388	N1069K	probably benign	Het
Edc4	A	G	8: 105,889,428	T812A	probably benign	Het
Eml4	A	G	17: 83,440,042	I238V	probably benign	Het
Ep400	T	C	5: 110,705,016	T1288A	unknown	Het
Fastkd1	A	C	2: 69,702,406	L539R	probably damaging	Het
Fbln7	G	A	2: 128,877,534		probably benign	Het
Fbxo39	A	G	11: 72,318,471	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267	K135R	probably damaging	Het
Gm3646	T	A	1: 39,804,323	T8S	unknown	Het
Gtsf1	A	T	15: 103,421,192	V100E	possibly damaging	Het
Helz2	A	G	2: 181,234,825	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,107,467		probably benign	Het
Ip6k2	T	G	9: 108,804,627	D252E	probably damaging	Het
Iqck	T	A	7: 118,915,594	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,915,175	V186A	probably damaging	Het
Klhl6	T	A	16: 19,949,447		probably null	Het
Lao1	C	T	4: 118,963,802	T75I	probably benign	Het
Lyst	T	C	13: 13,681,293	F2400L	probably benign	Het
Map3k9	A	T	12: 81,734,223	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,926,933	H229N	probably damaging	Het
Myh7	T	G	14: 54,974,701	I1529L	probably benign	Het
Nckap5	G	T	1: 126,695,722	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,323,033	F123I	probably damaging	Het
Nelfb	A	T	2: 25,203,980	D385E	probably benign	Het
Obscn	C	T	11: 59,081,984	V2288M	probably damaging	Het
Olfr1428	C	T	19: 12,109,520	V9M	possibly damaging	Het
Olfr1445	A	G	19: 12,884,094	Y71C	probably damaging	Het
Olfr686	A	T	7: 105,204,160	M61K	probably damaging	Het
Otog	T	A	7: 46,269,249		probably benign	Het
Oxa1l	A	G	14: 54,368,189	E375G	possibly damaging	Het
Pan2	T	A	10: 128,308,222	I129K	possibly damaging	Het
Parp1	A	G	1: 180,599,051	I919M	probably benign	Het
Pnpla7	T	C	2: 24,995,293	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,638,064	F169S	probably damaging	Het
Rab10	T	C	12: 3,264,743	D45G	probably damaging	Het
Reln	A	G	5: 21,980,109	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,665,277	S1045T	probably benign	Het
Setd2	T	C	9: 110,573,673	V1794A	probably damaging	Het
Spidr	T	A	16: 15,915,365	I589F	probably damaging	Het
Stmn4	A	C	14: 66,357,939	I165L	probably benign	Het
Stx5a	T	C	19: 8,749,937	M177T	probably damaging	Het
Tll1	T	C	8: 64,038,452		probably null	Het
Tmem192	T	C	8: 64,964,260	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,956,826		probably benign	Het
Ush2a	A	G	1: 188,714,466		probably benign	Het
Vezf1	A	G	11: 88,081,577	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,839,827	F265S	probably damaging	Het
Vps13a	A	G	19: 16,704,577	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,635,853	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,480,200	T845A	possibly damaging	Het

Other mutations in Olfr38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Olfr38	APN	6	42762112	missense	probably damaging	0.99
IGL01567:Olfr38	APN	6	42762727	missense	probably benign	0.07
IGL02097:Olfr38	APN	6	42762460	missense	probably damaging	0.98
IGL02186:Olfr38	APN	6	42762946	missense	probably null	0.96
IGL02473:Olfr38	APN	6	42762706	missense	probably damaging	1.00
R1210:Olfr38	UTSW	6	42762667	missense	possibly damaging	0.79
R1368:Olfr38	UTSW	6	42762679	missense	possibly damaging	0.91
R2383:Olfr38	UTSW	6	42762459	missense	probably benign	0.44
R4614:Olfr38	UTSW	6	42762418	missense	probably benign	0.07
R4616:Olfr38	UTSW	6	42762418	missense	probably benign	0.07
R4844:Olfr38	UTSW	6	42762460	missense	probably damaging	0.98
R5121:Olfr38	UTSW	6	42762997	nonsense	probably null
R5951:Olfr38	UTSW	6	42762559	missense	probably damaging	1.00
R6061:Olfr38	UTSW	6	42762965	missense	probably damaging	0.99
R6336:Olfr38	UTSW	6	42762657	missense	probably damaging	1.00
R7414:Olfr38	UTSW	6	42762828	missense	probably damaging	1.00
R8344:Olfr38	UTSW	6	42762565	missense	probably benign	0.03
X0018:Olfr38	UTSW	6	42762935	missense	probably damaging	0.99
Z1177:Olfr38	UTSW	6	42762207	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAGACTTTGTTTCCTGGCAGTG -3'
(R):5'- CACATAGCGGTCATAGGCCATCAC -3'

Sequencing Primer
(F):5'- GTTTCCTTCCAGAAACTGAAGCC -3'
(R):5'- GTCATAGGCCATCACTGCCAG -3'

Posted On

2013-06-12