Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Or8k38'

370871

Institutional Source

Beutler Lab

Gene Symbol

Or8k38

Ensembl Gene

ENSMUSG00000075176

Gene Name

olfactory receptor family 8 subfamily K member 38

Synonyms

Olfr1085, MOR191-1, GA_x6K02T2Q125-48147264-48146323

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86487859-86488800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86488029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 258 (M258L)

Ref Sequence

ENSEMBL: ENSMUSP00000150955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099879] [ENSMUST00000213279] [ENSMUST00000214566]

AlphaFold

Q7TR64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099879
AA Change: M258L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: M258L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.6e-49	PFAM
Pfam:7tm_1	41	290	1.1e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213279
AA Change: M258L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214566
AA Change: M258L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,384,588 (GRCm39)	V459A	probably benign	Het
Abca12	C	T	1: 71,318,015 (GRCm39)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,690,254 (GRCm39)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,694,517 (GRCm39)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,600,507 (GRCm39)	W200*	probably null	Het
AI661453	C	A	17: 47,778,112 (GRCm39)		probably benign	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,692,510 (GRCm39)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,322,288 (GRCm39)	F410L	probably benign	Het
Aox4	T	A	1: 58,305,808 (GRCm39)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,005,695 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,180,118 (GRCm39)	S54P	probably damaging	Het
Aunip	C	A	4: 134,238,450 (GRCm39)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,760,003 (GRCm39)		probably null	Het
Cabp4	T	C	19: 4,189,290 (GRCm39)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,335,429 (GRCm39)		probably benign	Het
Chfr	C	T	5: 110,306,700 (GRCm39)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,829,671 (GRCm39)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,388,980 (GRCm39)	T113I	probably benign	Het
Col12a1	T	A	9: 79,600,849 (GRCm39)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,640,454 (GRCm39)	L537P	probably damaging	Het
Creb5	A	T	6: 53,587,411 (GRCm39)	E47V	probably null	Het
Csnk1d	A	T	11: 120,854,668 (GRCm39)		probably benign	Het
Cts6	A	T	13: 61,349,995 (GRCm39)	W29R	probably damaging	Het
Dbt	T	A	3: 116,339,992 (GRCm39)	I420N	probably damaging	Het
Det1	C	A	7: 78,493,555 (GRCm39)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,609,940 (GRCm39)		probably null	Het
Dnmt3a	A	T	12: 3,950,352 (GRCm39)	I639F	probably damaging	Het
Dock9	A	T	14: 121,784,008 (GRCm39)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,599,678 (GRCm39)	T765S	possibly damaging	Het
Entrep2	G	A	7: 64,426,488 (GRCm39)	T159I	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 108,972,458 (GRCm39)	V395I	probably damaging	Het
Fn1	C	A	1: 71,691,959 (GRCm39)		probably benign	Het
Fpr-rs3	A	T	17: 20,844,683 (GRCm39)	S153T	probably benign	Het
Frem2	A	G	3: 53,561,316 (GRCm39)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gjd2	C	T	2: 113,842,022 (GRCm39)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,842,154 (GRCm39)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,342,262 (GRCm39)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,174,807 (GRCm39)	R40W	unknown	Het
Kif1c	C	T	11: 70,617,183 (GRCm39)	A839V	probably benign	Het
Krt31	G	A	11: 99,940,748 (GRCm39)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,328,525 (GRCm39)	Y163C	probably damaging	Het
Mars1	G	T	10: 127,136,084 (GRCm39)	T535K	probably damaging	Het
Mdc1	T	C	17: 36,159,993 (GRCm39)		probably null	Het
Micos10	C	G	4: 138,858,268 (GRCm39)	W10S	probably damaging	Het
Micu1	C	T	10: 59,576,644 (GRCm39)	H167Y	probably benign	Het
Mrgprb1	C	T	7: 48,097,739 (GRCm39)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,647,758 (GRCm39)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,268,523 (GRCm39)		probably benign	Het
Or13a18	A	G	7: 140,190,987 (GRCm39)	K295E	probably damaging	Het
Or4k44	C	T	2: 111,367,956 (GRCm39)	C226Y	probably benign	Het
Or52ab7	T	A	7: 102,977,730 (GRCm39)	Y12*	probably null	Het
Pex16	T	C	2: 92,206,983 (GRCm39)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,254,080 (GRCm39)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,423,855 (GRCm39)	S27P	probably benign	Het
Ptch1	A	T	13: 63,661,522 (GRCm39)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,399,036 (GRCm39)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,298,800 (GRCm39)		probably benign	Het
Rcc2	G	A	4: 140,444,353 (GRCm39)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,055,949 (GRCm39)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,172,189 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,648,936 (GRCm39)	D42E	probably benign	Het
Scube3	C	T	17: 28,384,147 (GRCm39)	R549W	probably damaging	Het
Sil1	A	T	18: 35,458,428 (GRCm39)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,718,531 (GRCm39)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,589,002 (GRCm39)	C182S	probably benign	Het
Spata21	G	A	4: 140,824,431 (GRCm39)		probably null	Het
Stim2	T	C	5: 54,267,955 (GRCm39)	V417A	probably damaging	Het
Szt2	T	C	4: 118,246,182 (GRCm39)	D993G	probably damaging	Het
Tet3	A	G	6: 83,379,928 (GRCm39)	S747P	probably benign	Het
Tmem86a	C	G	7: 46,702,678 (GRCm39)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,236,572 (GRCm39)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,273,218 (GRCm39)	Q25*	probably null	Het
Urb1	A	G	16: 90,556,730 (GRCm39)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,270,873 (GRCm39)		probably null	Het
Usp36	A	C	11: 118,153,896 (GRCm39)	L840R	probably damaging	Het
Usp50	C	A	2: 126,619,773 (GRCm39)		probably benign	Het
Vangl2	A	G	1: 171,837,230 (GRCm39)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,866 (GRCm39)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,294,007 (GRCm39)	Y698F	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zfp808	G	T	13: 62,319,106 (GRCm39)	E112*	probably null	Het

Other mutations in Or8k38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Or8k38	APN	2	86,488,070 (GRCm39)	missense	probably damaging	0.98
IGL01137:Or8k38	APN	2	86,488,055 (GRCm39)	missense	possibly damaging	0.92
IGL01329:Or8k38	APN	2	86,488,551 (GRCm39)	missense	probably benign	0.31
IGL01398:Or8k38	APN	2	86,488,032 (GRCm39)	missense	probably damaging	1.00
IGL02248:Or8k38	APN	2	86,488,061 (GRCm39)	missense	probably damaging	1.00
IGL02699:Or8k38	APN	2	86,488,691 (GRCm39)	missense	probably benign	0.34
IGL02818:Or8k38	APN	2	86,488,128 (GRCm39)	missense	probably damaging	1.00
IGL03095:Or8k38	APN	2	86,488,775 (GRCm39)	missense	possibly damaging	0.50
IGL03218:Or8k38	APN	2	86,488,703 (GRCm39)	missense	probably benign	0.32
R0121:Or8k38	UTSW	2	86,488,163 (GRCm39)	missense	probably benign	0.42
R0546:Or8k38	UTSW	2	86,488,235 (GRCm39)	missense	possibly damaging	0.91
R0583:Or8k38	UTSW	2	86,488,704 (GRCm39)	missense	probably benign	0.20
R0980:Or8k38	UTSW	2	86,488,209 (GRCm39)	missense	probably benign	0.39
R2067:Or8k38	UTSW	2	86,488,781 (GRCm39)	missense	probably damaging	1.00
R2111:Or8k38	UTSW	2	86,488,781 (GRCm39)	missense	probably damaging	1.00
R3760:Or8k38	UTSW	2	86,488,232 (GRCm39)	missense	possibly damaging	0.91
R4530:Or8k38	UTSW	2	86,487,905 (GRCm39)	missense	probably benign	0.00
R5940:Or8k38	UTSW	2	86,488,394 (GRCm39)	missense	probably damaging	0.98
R6027:Or8k38	UTSW	2	86,488,148 (GRCm39)	missense	probably damaging	1.00
R6417:Or8k38	UTSW	2	86,488,510 (GRCm39)	nonsense	probably null
R6420:Or8k38	UTSW	2	86,488,510 (GRCm39)	nonsense	probably null
R6619:Or8k38	UTSW	2	86,488,406 (GRCm39)	missense	probably damaging	1.00
R6762:Or8k38	UTSW	2	86,488,188 (GRCm39)	missense	probably benign	0.22
R6946:Or8k38	UTSW	2	86,487,932 (GRCm39)	missense	probably damaging	1.00
R7673:Or8k38	UTSW	2	86,488,070 (GRCm39)	missense	probably damaging	1.00
R7718:Or8k38	UTSW	2	86,488,373 (GRCm39)	missense	probably benign	0.26
R8461:Or8k38	UTSW	2	86,487,890 (GRCm39)	missense	probably benign	0.02
R8506:Or8k38	UTSW	2	86,488,745 (GRCm39)	missense	probably benign	0.05
R8977:Or8k38	UTSW	2	86,488,472 (GRCm39)	missense	probably benign	0.02
R9172:Or8k38	UTSW	2	86,487,879 (GRCm39)	missense	probably benign	0.00
R9211:Or8k38	UTSW	2	86,488,024 (GRCm39)	nonsense	probably null
R9337:Or8k38	UTSW	2	86,488,476 (GRCm39)	missense	probably benign	0.01
R9713:Or8k38	UTSW	2	86,488,041 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GTCATGGCTATATTTGTATGCAACC -3'
(R):5'- GCTCTGTTCAAATACACATGAGG -3'

Sequencing Primer
(F):5'- GCAACCTTTAAGAAAAACTGGTAAC -3'
(R):5'- GTTCAAATACACATGAGGTTGAAGTG -3'

Posted On

2016-02-04