Mutagenetix > Incidental Mutation

Incidental Mutation 'R8447:Or11h6'

654572

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

067902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50879652-50880826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50880008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 84 (V84A)

Ref Sequence

ENSEMBL: ENSMUSP00000153971 (fasta)

Gene Model

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

AlphaFold

Q7TRL9

Predicted Effect

probably benign
Transcript: ENSMUST00000062534
AA Change: V90A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000050184
Gene: ENSMUSG00000050028
AA Change: V90A

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

probably benign
Transcript: ENSMUST00000213127
AA Change: V84A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000218546

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,957,278 (GRCm39)	T136P	probably damaging	Het
Abcc3	A	T	11: 94,254,886 (GRCm39)	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,655,400 (GRCm39)	N289K	probably damaging	Het
Akap12	A	G	10: 4,306,289 (GRCm39)	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,648,793 (GRCm39)	L167F	probably damaging	Het
Cars1	T	C	7: 143,123,766 (GRCm39)	K506E	possibly damaging	Het
Castor1	T	C	11: 4,170,165 (GRCm39)	V81A	probably damaging	Het
Cfap46	C	A	7: 139,260,902 (GRCm39)	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clec16a	C	A	16: 10,559,487 (GRCm39)	T920K	probably benign	Het
Coro2b	C	T	9: 62,333,842 (GRCm39)	E351K	probably damaging	Het
Diablo	T	C	5: 123,655,829 (GRCm39)	E163G	probably damaging	Het
Dnah6	A	G	6: 73,115,757 (GRCm39)	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,874,719 (GRCm39)	D37E	probably benign	Het
Eml4	A	T	17: 83,755,656 (GRCm39)	Q408L	probably damaging	Het
F2rl3	T	C	8: 73,489,963 (GRCm39)	*397R	probably null	Het
Fance	T	A	17: 28,545,155 (GRCm39)	L127Q	unknown	Het
Fat4	T	C	3: 39,033,824 (GRCm39)	V2492A	possibly damaging	Het
Ggta1	C	T	2: 35,292,573 (GRCm39)	D245N	probably damaging	Het
Gli1	T	C	10: 127,166,106 (GRCm39)	N1049S	probably benign	Het
Grin2c	A	G	11: 115,148,215 (GRCm39)	V354A	probably benign	Het
Kank4	T	A	4: 98,666,729 (GRCm39)	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,588,881 (GRCm39)	V376A	probably benign	Het
Kndc1	T	C	7: 139,481,121 (GRCm39)	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,020,825 (GRCm39)	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,444,356 (GRCm39)	V99D	probably damaging	Het
Lepr	T	C	4: 101,671,688 (GRCm39)	V904A	probably benign	Het
Lipe	G	T	7: 25,080,017 (GRCm39)	N710K	probably damaging	Het
Med1	C	A	11: 98,060,240 (GRCm39)	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,758,864 (GRCm39)	I96K	probably benign	Het
Obox1	A	T	7: 15,289,541 (GRCm39)	Q110L	probably damaging	Het
Or4f4b	T	A	2: 111,314,101 (GRCm39)	Y137N	probably damaging	Het
Or4k37	T	A	2: 111,159,307 (GRCm39)	I181N	possibly damaging	Het
Or5t16	T	A	2: 86,818,885 (GRCm39)	I212F	probably benign	Het
Or6c76	T	G	10: 129,612,371 (GRCm39)	M211R	possibly damaging	Het
Or9s14	C	A	1: 92,535,494 (GRCm39)		probably benign	Het
Pah	T	C	10: 87,417,827 (GRCm39)		probably null	Het
Pate1	A	T	9: 35,597,631 (GRCm39)	N40K	probably benign	Het
Pclo	C	A	5: 14,731,423 (GRCm39)	D182E		Het
Prl7a2	A	T	13: 27,849,941 (GRCm39)	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,007,873 (GRCm39)	D894V	probably benign	Het
Ripor2	T	A	13: 24,907,771 (GRCm39)	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,740,188 (GRCm39)		probably null	Het
Sh2d3c	A	G	2: 32,642,671 (GRCm39)	T706A	probably damaging	Het
Slc34a1	T	C	13: 24,006,309 (GRCm39)	F445S	possibly damaging	Het
Spata20	C	A	11: 94,373,080 (GRCm39)	L515F	probably damaging	Het
Tcf20	G	A	15: 82,737,437 (GRCm39)	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,377,180 (GRCm39)	P236Q	probably damaging	Het
Tmem135	T	C	7: 88,803,240 (GRCm39)	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Tmem94	G	T	11: 115,688,023 (GRCm39)	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,688,696 (GRCm39)	R1301H	probably benign	Het
Zp3	G	A	5: 136,013,244 (GRCm39)	G192E	probably 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
R4084:Or11h6	UTSW	14	50,880,305 (GRCm39)	missense	probably damaging	0.98
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
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'- TCGGATCCAAGAACAGCTCC -3'
(R):5'- TAGTGTAATGGTCGACAGATAGCC -3'

Sequencing Primer
(F):5'- CAGCTCCATACATTTTGTGACTGAG -3'
(R):5'- TCGACAGATAGCCAGGTATCGATC -3'

Posted On

2020-10-20