Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Or11h6'

317048

Institutional Source

Beutler Lab

Gene Symbol

Or11h6

Ensembl Gene

ENSMUSG00000050028

Gene Name

olfactory receptor family 11 subfamily H member 6

Synonyms

GA_x6K02T2PMLR-6361495-6362481, Olfr745, MOR106-11

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50879652-50880826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50880305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 189 (I189N)

Ref Sequence

ENSEMBL: ENSMUSP00000050184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062534] [ENSMUST00000213127] [ENSMUST00000218546]

AlphaFold

Q7TRL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062534
AA Change: I189N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050184
Gene: ENSMUSG00000050028
AA Change: I189N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:7tm_4	44	324	6.3e-54	PFAM
Pfam:7TM_GPCR_Srsx	51	191	6.6e-6	PFAM
Pfam:7tm_1	57	306	1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206749

Predicted Effect

probably damaging
Transcript: ENSMUST00000213127
AA Change: I183N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216105

Predicted Effect

probably benign
Transcript: ENSMUST00000218546

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,601,884 (GRCm39)		probably null	Het
Arhgdig	T	C	17: 26,418,799 (GRCm39)	D114G	possibly damaging	Het
Btnl1	C	T	17: 34,600,133 (GRCm39)	T212I	possibly damaging	Het
Camkk1	C	T	11: 72,928,691 (GRCm39)	T410I	probably damaging	Het
Capn13	C	T	17: 73,644,444 (GRCm39)	G362R	probably benign	Het
Catsperd	A	G	17: 56,961,453 (GRCm39)	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632 (GRCm39)	I1626V	probably benign	Het
Cdon	C	A	9: 35,389,427 (GRCm39)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm39)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm39)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,358,795 (GRCm39)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,641,676 (GRCm39)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,689,248 (GRCm39)	V457A	probably damaging	Het
Flna	C	T	X: 73,280,531 (GRCm39)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 52,997,507 (GRCm39)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,264,607 (GRCm39)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,943,156 (GRCm39)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,533,417 (GRCm39)	V213A	probably damaging	Het
Herc4	G	T	10: 63,119,016 (GRCm39)	G322V	probably damaging	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Htra1	T	C	7: 130,538,074 (GRCm39)	S25P	probably benign	Het
Ifi44	A	G	3: 151,451,126 (GRCm39)		probably null	Het
Klhl24	T	A	16: 19,933,312 (GRCm39)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,365,217 (GRCm39)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,686,250 (GRCm39)	I634N	probably damaging	Het
Lipn	T	C	19: 34,056,340 (GRCm39)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,442,716 (GRCm39)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,860,232 (GRCm39)	T22I	probably benign	Het
Macf1	T	C	4: 123,343,865 (GRCm39)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,234,920 (GRCm39)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,325,938 (GRCm39)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,280,258 (GRCm39)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,573,248 (GRCm39)	L62P	probably damaging	Het
Or2b2	G	A	13: 21,887,238 (GRCm39)	W22*	probably null	Het
Or2b2	C	A	13: 21,887,239 (GRCm39)	L23M	probably damaging	Het
Or52ab4	T	G	7: 102,987,527 (GRCm39)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,142,806 (GRCm39)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,060,805 (GRCm39)	F441L	probably damaging	Het
Prkaca	C	A	8: 84,721,939 (GRCm39)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripor3	A	G	2: 167,826,386 (GRCm39)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,808 (GRCm39)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,126 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,253 (GRCm39)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,921,860 (GRCm39)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,139,126 (GRCm39)	I273L	possibly damaging	Het
Slc23a2	A	T	2: 131,933,137 (GRCm39)	L107*	probably null	Het
Slc44a4	T	C	17: 35,136,323 (GRCm39)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,815,148 (GRCm39)	V387I	probably benign	Het
Slu7	G	A	11: 43,334,218 (GRCm39)	A415T	probably benign	Het
Tlr5	A	T	1: 182,802,413 (GRCm39)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 56,891,387 (GRCm39)	G3D	probably benign	Het
Trim24	A	G	6: 37,892,192 (GRCm39)	T242A	probably damaging	Het
Triobp	T	A	15: 78,857,871 (GRCm39)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,066,899 (GRCm39)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,218,984 (GRCm39)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,600,414 (GRCm39)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,213,098 (GRCm39)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,108,122 (GRCm39)	N27K	possibly damaging	Het
Zfp27	C	T	7: 29,594,792 (GRCm39)	R391H	possibly damaging	Het

Other mutations in Or11h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Or11h6	APN	14	50,880,625 (GRCm39)	missense	probably benign	0.02
IGL02316:Or11h6	APN	14	50,879,744 (GRCm39)	missense	probably benign	0.25
IGL02377:Or11h6	APN	14	50,879,975 (GRCm39)	splice site	probably null
IGL02471:Or11h6	APN	14	50,880,214 (GRCm39)	missense	probably benign	0.43
IGL02486:Or11h6	APN	14	50,880,089 (GRCm39)	missense	probably damaging	1.00
IGL02517:Or11h6	APN	14	50,880,658 (GRCm39)	missense	probably benign	0.01
R0453:Or11h6	UTSW	14	50,880,461 (GRCm39)	missense	possibly damaging	0.90
R0727:Or11h6	UTSW	14	50,880,460 (GRCm39)	missense	probably damaging	0.98
R0746:Or11h6	UTSW	14	50,880,232 (GRCm39)	splice site	probably null
R1638:Or11h6	UTSW	14	50,880,565 (GRCm39)	missense	possibly damaging	0.93
R1688:Or11h6	UTSW	14	50,880,705 (GRCm39)	missense	probably benign	0.04
R1991:Or11h6	UTSW	14	50,880,323 (GRCm39)	missense	possibly damaging	0.90
R2245:Or11h6	UTSW	14	50,880,062 (GRCm39)	missense	probably damaging	1.00
R3758:Or11h6	UTSW	14	50,880,493 (GRCm39)	missense	possibly damaging	0.96
R5033:Or11h6	UTSW	14	50,880,619 (GRCm39)	missense	probably damaging	1.00
R5211:Or11h6	UTSW	14	50,880,710 (GRCm39)	missense	possibly damaging	0.78
R5302:Or11h6	UTSW	14	50,879,776 (GRCm39)	splice site	probably null
R5645:Or11h6	UTSW	14	50,880,524 (GRCm39)	missense	probably benign	0.00
R5731:Or11h6	UTSW	14	50,880,248 (GRCm39)	missense	probably damaging	1.00
R6917:Or11h6	UTSW	14	50,880,680 (GRCm39)	missense	possibly damaging	0.67
R7408:Or11h6	UTSW	14	50,879,852 (GRCm39)	missense	probably benign	0.16
R7716:Or11h6	UTSW	14	50,879,815 (GRCm39)	missense	probably benign	0.17
R7728:Or11h6	UTSW	14	50,879,849 (GRCm39)	missense	probably benign	0.00
R8208:Or11h6	UTSW	14	50,880,088 (GRCm39)	missense	probably benign	0.28
R8447:Or11h6	UTSW	14	50,880,008 (GRCm39)	missense	probably benign	0.00
R8726:Or11h6	UTSW	14	50,880,703 (GRCm39)	missense	probably benign	0.00
R8748:Or11h6	UTSW	14	50,880,211 (GRCm39)	missense	probably benign	0.19
R9279:Or11h6	UTSW	14	50,880,493 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAATAAGACCATCTCCTTCTCTGC -3'
(R):5'- AGTTCGACCAGCACCAGAAG -3'

Sequencing Primer
(F):5'- ACAACAGAGTGTTTCTTCTTGTCAGC -3'
(R):5'- GGAACTCGAAACACAGCTCTGAG -3'

Posted On

2015-05-15