Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Olfr38'

351037

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

041827-MU

Accession Numbers

Essential gene?

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

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42756404-42763231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42762418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 122 (R122L)

Ref Sequence

ENSEMBL: ENSMUSP00000149726 (fasta)

Gene Model

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

AlphaFold

Q8VGP4

Predicted Effect

probably benign
Transcript: ENSMUST00000074499
AA Change: R122L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: R122L

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 benign
Transcript: ENSMUST00000215796
AA Change: R122L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.2198

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	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
R0541:Olfr38	UTSW	6	42762220	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
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
R9603:Olfr38	UTSW	6	42762738	nonsense	probably null
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'- TCAGACTGGACAGCAGACTC -3'
(R):5'- GCAAGGGTTTCACAGGCTATG -3'

Sequencing Primer
(F):5'- TGGACAGCAGACTCCACACTC -3'
(R):5'- CATGATGTGATGACCAGC -3'

Posted On

2015-10-08