Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Or8k27'

220074

Institutional Source

Beutler Lab

Gene Symbol

Or8k27

Ensembl Gene

ENSMUSG00000111306

Gene Name

olfactory receptor family 8 subfamily K member 27

Synonyms

Olfr1065, GA_x6K02T2Q125-47915274-47914333, MOR190-1

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86275357-86276348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86275420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 302 (H302L)

Ref Sequence

ENSEMBL: ENSMUSP00000149248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213789] [ENSMUST00000216162] [ENSMUST00000216165] [ENSMUST00000217586]

AlphaFold

Q7TR70

Predicted Effect

probably benign
Transcript: ENSMUST00000099886
AA Change: H302L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097471
Gene: ENSMUSG00000075182
AA Change: H302L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.1e-53	PFAM
Pfam:7tm_1	41	290	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213789
AA Change: H302L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000216162
AA Change: H302L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000216165
AA Change: H302L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000217586
AA Change: H302L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Actn2	C	T	13: 12,293,696 (GRCm39)	R608H	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Btbd3	T	G	2: 138,125,608 (GRCm39)	L264R	probably damaging	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,716,312 (GRCm39)	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai1	A	G	4: 41,603,232 (GRCm39)	K172E	probably benign	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Kif11	C	T	19: 37,379,224 (GRCm39)	T305I	possibly damaging	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Terf2	T	C	8: 107,809,640 (GRCm39)	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	possibly damaging	Het

Other mutations in Or8k27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03133:Or8k27	APN	2	86,276,002 (GRCm39)	missense	probably damaging	0.99
IGL03173:Or8k27	APN	2	86,275,788 (GRCm39)	nonsense	probably null
IGL03257:Or8k27	APN	2	86,276,234 (GRCm39)	missense	probably damaging	0.98
D4043:Or8k27	UTSW	2	86,275,564 (GRCm39)	missense	probably damaging	0.99
R0265:Or8k27	UTSW	2	86,276,303 (GRCm39)	missense	probably benign	0.00
R0550:Or8k27	UTSW	2	86,276,220 (GRCm39)	nonsense	probably null
R0633:Or8k27	UTSW	2	86,275,473 (GRCm39)	missense	probably benign	0.45
R0727:Or8k27	UTSW	2	86,276,282 (GRCm39)	missense	probably benign	0.00
R1017:Or8k27	UTSW	2	86,275,772 (GRCm39)	missense	probably benign	0.13
R1416:Or8k27	UTSW	2	86,275,664 (GRCm39)	missense	probably benign	0.43
R1657:Or8k27	UTSW	2	86,275,562 (GRCm39)	missense	probably damaging	1.00
R3919:Or8k27	UTSW	2	86,275,762 (GRCm39)	missense	probably benign	0.01
R4345:Or8k27	UTSW	2	86,276,189 (GRCm39)	missense	probably damaging	1.00
R5382:Or8k27	UTSW	2	86,275,660 (GRCm39)	missense	probably damaging	0.99
R5757:Or8k27	UTSW	2	86,275,922 (GRCm39)	missense	probably benign	0.22
R6530:Or8k27	UTSW	2	86,275,826 (GRCm39)	missense	probably benign	0.31
R6765:Or8k27	UTSW	2	86,275,580 (GRCm39)	missense	probably benign	0.04
R6856:Or8k27	UTSW	2	86,276,251 (GRCm39)	missense	probably benign	0.04
R7156:Or8k27	UTSW	2	86,275,652 (GRCm39)	missense	probably damaging	1.00
R8239:Or8k27	UTSW	2	86,275,473 (GRCm39)	missense	noncoding transcript
R8338:Or8k27	UTSW	2	86,275,729 (GRCm39)	missense	probably benign	0.00
R8909:Or8k27	UTSW	2	86,276,082 (GRCm39)	missense	possibly damaging	0.80
R9469:Or8k27	UTSW	2	86,275,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCATTAGTATCCAATCCTACTCAG -3'
(R):5'- TAGGATGAACTCTGCTGAGGGC -3'

Sequencing Primer
(F):5'- GTTTGACTACTAGGAAGAGTGAT -3'
(R):5'- TGGATCCCACCTGACTGTG -3'

Posted On

2014-08-25