Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Or8k38'

232529

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

040115-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86487859-86488800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86488781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 7 (T7K)

Ref Sequence

ENSEMBL: ENSMUSP00000150955 (fasta)

Gene Model

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

AlphaFold

Q7TR64

Predicted Effect

probably damaging
Transcript: ENSMUST00000099879
AA Change: T7K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: T7K

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

probably damaging
Transcript: ENSMUST00000213279
AA Change: T7K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214566
AA Change: T7K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Adam9	C	T	8: 25,472,142 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Akp3	A	T	1: 87,054,607 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,845 (GRCm39)	S388G	probably benign	Het
Amph	G	A	13: 19,300,436 (GRCm39)		probably benign	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,597,609 (GRCm39)	F808S	probably damaging	Het
Baz1a	T	A	12: 54,958,170 (GRCm39)	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,448,255 (GRCm39)	H297Q	probably damaging	Het
Calr3	T	A	8: 73,181,112 (GRCm39)	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,731,692 (GRCm39)	R46C	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfhr4	T	A	1: 139,702,417 (GRCm39)		probably benign	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,353,547 (GRCm39)	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,241,327 (GRCm39)	V379A	probably benign	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ercc6l2	A	G	13: 63,982,563 (GRCm39)	T126A	probably damaging	Het
Fgf6	T	C	6: 126,992,723 (GRCm39)	S59P	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,574,329 (GRCm39)	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Gk2	T	C	5: 97,604,164 (GRCm39)	I225V	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Ift172	G	A	5: 31,443,423 (GRCm39)	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,138,613 (GRCm39)	S72*	probably null	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Itpr1	T	G	6: 108,355,270 (GRCm39)		probably benign	Het
Khdrbs3	C	T	15: 68,896,673 (GRCm39)	T111I	probably benign	Het
Mageb3	A	G	2: 121,785,306 (GRCm39)		probably null	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Mtr	A	T	13: 12,259,487 (GRCm39)	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nes	A	G	3: 87,884,618 (GRCm39)	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,347,167 (GRCm39)	I30M	probably benign	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Nup155	A	G	15: 8,150,951 (GRCm39)	I334V	probably benign	Het
Or10j2	A	T	1: 173,097,879 (GRCm39)	M46L	probably benign	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or5b3	G	A	19: 13,388,307 (GRCm39)	A125T	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pja2	T	A	17: 64,597,031 (GRCm39)	D553V	probably damaging	Het
Prune2	T	C	19: 17,185,602 (GRCm39)	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,807,753 (GRCm39)		probably null	Het
Rdh13	A	G	7: 4,448,482 (GRCm39)	V10A	probably benign	Het
Rimbp2	T	C	5: 128,850,565 (GRCm39)	Y906C	probably damaging	Het
Ripor1	T	C	8: 106,341,344 (GRCm39)	F59S	probably damaging	Het
Rnf185	T	C	11: 3,382,393 (GRCm39)		probably benign	Het
Runx3	T	C	4: 134,882,627 (GRCm39)	V107A	probably damaging	Het
Scn3b	T	C	9: 40,193,741 (GRCm39)	V156A	probably benign	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,933,274 (GRCm39)	R111*	probably null	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Snx13	A	T	12: 35,188,084 (GRCm39)	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,659 (GRCm39)	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tagln3	A	G	16: 45,531,957 (GRCm39)	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,076,819 (GRCm39)	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,796,040 (GRCm39)	E211G	probably benign	Het
Tmod3	A	G	9: 75,416,645 (GRCm39)	V229A	probably damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Xrn1	C	A	9: 95,921,885 (GRCm39)	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,536,005 (GRCm39)		noncoding transcript	Het
Zfp74	G	A	7: 29,634,443 (GRCm39)	Q422*	probably null	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	probably damaging	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
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
R4809:Or8k38	UTSW	2	86,488,029 (GRCm39)	missense	possibly damaging	0.95
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'- GATCAGTGAAAGCCAGATGTTTG -3'
(R):5'- AACAAATCCCTGTTACTGCCTC -3'

Sequencing Primer
(F):5'- GCCTAAATTACCCACTGC -3'
(R):5'- AAATCCCTGTTACTGCCTCTGTATC -3'

Posted On

2014-09-18