Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Or5an11'

424818

Institutional Source

Beutler Lab

Gene Symbol

Or5an11

Ensembl Gene

ENSMUSG00000060049

Gene Name

olfactory receptor family 5 subfamily AN member 11

Synonyms

Olfr245, GA_x6K02T2LL2P-1028-792, Olfr232, GA_x6K02T03CT6-1-477, GA_x6K02T057QT-4025-4642, MOR214-3, Olfr235, MOR214-3

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12245596-12246534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12245773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 60 (M60L)

Ref Sequence

ENSEMBL: ENSMUSP00000150313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073507] [ENSMUST00000207969] [ENSMUST00000214551] [ENSMUST00000214613] [ENSMUST00000214638] [ENSMUST00000215407]

AlphaFold

E9Q9Z6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073507
AA Change: M60L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073203
Gene: ENSMUSG00000060049
AA Change: M60L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	3.8e-56	PFAM
Pfam:7tm_1	42	309	1.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207842
AA Change: M60L

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207969
AA Change: M60L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214551
AA Change: M60L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214613
AA Change: M60L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214638
AA Change: M60L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215407
AA Change: M60L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1042

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,314,844 (GRCm39)	P250S	possibly damaging	Het
Actn2	T	A	13: 12,323,837 (GRCm39)	M133L	probably benign	Het
Arhgap32	A	T	9: 32,063,306 (GRCm39)	K105M	probably damaging	Het
BC034090	A	G	1: 155,101,349 (GRCm39)	V305A	probably benign	Het
Brd1	G	A	15: 88,613,767 (GRCm39)	T376M	probably damaging	Het
Cbl	C	T	9: 44,070,318 (GRCm39)	A505T	probably benign	Het
Cga	G	T	4: 34,904,048 (GRCm39)	M14I	probably benign	Het
Ciao3	A	G	17: 25,995,894 (GRCm39)		probably benign	Het
Cluh	T	C	11: 74,555,935 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,225,832 (GRCm39)	D165V	unknown	Het
Cp	T	C	3: 20,033,089 (GRCm39)	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,151,385 (GRCm39)	D276V	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ecpas	A	T	4: 58,850,934 (GRCm39)	M413K	probably benign	Het
Erc1	T	A	6: 119,738,233 (GRCm39)	M509L	probably benign	Het
Evi5l	A	G	8: 4,228,653 (GRCm39)		probably benign	Het
Exoc6	T	C	19: 37,587,127 (GRCm39)		probably null	Het
Gm38706	C	T	6: 130,460,744 (GRCm39)		noncoding transcript	Het
Gpr183	T	C	14: 122,192,333 (GRCm39)	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952 (GRCm39)	D225E	probably benign	Het
Grb14	T	A	2: 64,745,078 (GRCm39)	K93N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kif28	C	T	1: 179,527,847 (GRCm39)	G768D	probably damaging	Het
Krt79	A	T	15: 101,839,875 (GRCm39)	D373E	probably benign	Het
Mro	G	A	18: 74,009,893 (GRCm39)	S187N	probably benign	Het
Ms4a14	G	T	19: 11,280,421 (GRCm39)	D712E	possibly damaging	Het
Ndufaf1	T	C	2: 119,490,893 (GRCm39)	T56A	possibly damaging	Het
Nell2	A	T	15: 95,127,091 (GRCm39)	D761E	probably damaging	Het
Numb	A	G	12: 83,854,979 (GRCm39)	F116L	probably damaging	Het
Or3a1	T	A	11: 74,225,806 (GRCm39)	M84L	probably benign	Het
Or4c114	A	G	2: 88,905,079 (GRCm39)	Y119H	probably damaging	Het
Or6c66	T	A	10: 129,461,876 (GRCm39)	D18V	probably damaging	Het
Or8k27	A	G	2: 86,275,660 (GRCm39)	L222P	probably damaging	Het
Or9g20	T	C	2: 85,630,492 (GRCm39)	N41D	probably damaging	Het
Otog	A	C	7: 45,898,428 (GRCm39)	N182T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	A	T	4: 140,458,521 (GRCm39)	V457E	probably damaging	Het
Pex16	G	A	2: 92,207,875 (GRCm39)	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,288,695 (GRCm39)		probably benign	Het
Phf20	G	A	2: 156,109,417 (GRCm39)	E255K	probably damaging	Het
Pim1	A	G	17: 29,710,457 (GRCm39)		probably benign	Het
Prr23a2	T	A	9: 98,739,229 (GRCm39)	Y196N	probably damaging	Het
Prune2	A	T	19: 16,981,023 (GRCm39)	N60I	probably damaging	Het
Ptprb	T	A	10: 116,189,776 (GRCm39)	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,581,541 (GRCm39)	Y512C	possibly damaging	Het
Resf1	G	T	6: 149,227,958 (GRCm39)	E335*	probably null	Het
Rft1	T	C	14: 30,388,739 (GRCm39)	V221A	probably benign	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,115,025 (GRCm39)	I25T	probably benign	Het
Th	A	G	7: 142,449,177 (GRCm39)	F191S	probably damaging	Het
Trim3	C	A	7: 105,267,554 (GRCm39)	R275L	probably benign	Het
Trpm3	A	G	19: 22,862,705 (GRCm39)		probably null	Het
Wars1	A	T	12: 108,848,706 (GRCm39)	D80E	probably benign	Het
Wdr90	T	A	17: 26,064,572 (GRCm39)	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,782,735 (GRCm39)	I1182N	possibly damaging	Het

Other mutations in Or5an11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Or5an11	APN	19	12,246,374 (GRCm39)	missense	probably damaging	1.00
IGL03397:Or5an11	APN	19	12,245,866 (GRCm39)	missense	probably benign	0.03
R1239:Or5an11	UTSW	19	12,246,340 (GRCm39)	missense	probably damaging	1.00
R1416:Or5an11	UTSW	19	12,246,258 (GRCm39)	missense	probably benign	0.09
R1441:Or5an11	UTSW	19	12,245,750 (GRCm39)	nonsense	probably null
R1694:Or5an11	UTSW	19	12,246,281 (GRCm39)	missense	probably damaging	1.00
R1727:Or5an11	UTSW	19	12,246,365 (GRCm39)	missense	possibly damaging	0.70
R2422:Or5an11	UTSW	19	12,246,283 (GRCm39)	missense	probably damaging	0.99
R3439:Or5an11	UTSW	19	12,245,759 (GRCm39)	missense	possibly damaging	0.56
R4545:Or5an11	UTSW	19	12,246,188 (GRCm39)	missense	possibly damaging	0.91
R4605:Or5an11	UTSW	19	12,246,532 (GRCm39)	makesense	probably null
R5147:Or5an11	UTSW	19	12,246,268 (GRCm39)	missense	probably damaging	1.00
R5717:Or5an11	UTSW	19	12,246,520 (GRCm39)	missense	probably benign	0.13
R6455:Or5an11	UTSW	19	12,246,070 (GRCm39)	missense	probably damaging	0.97
R6880:Or5an11	UTSW	19	12,245,974 (GRCm39)	missense	probably benign	0.22
R7311:Or5an11	UTSW	19	12,246,068 (GRCm39)	missense	probably benign	0.29
R7384:Or5an11	UTSW	19	12,246,440 (GRCm39)	missense	possibly damaging	0.80
R8138:Or5an11	UTSW	19	12,246,436 (GRCm39)	missense	possibly damaging	0.61
R9005:Or5an11	UTSW	19	12,245,704 (GRCm39)	missense	probably benign
R9118:Or5an11	UTSW	19	12,246,263 (GRCm39)	missense	probably benign	0.02
R9484:Or5an11	UTSW	19	12,245,735 (GRCm39)	missense	possibly damaging	0.58
R9549:Or5an11	UTSW	19	12,246,408 (GRCm39)	missense	probably benign	0.02
R9691:Or5an11	UTSW	19	12,246,379 (GRCm39)	nonsense	probably null
R9738:Or5an11	UTSW	19	12,245,869 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GAGCACTAGCACTGAAGACATG -3'
(R):5'- CAAATGGCAGCATACCTGTC -3'

Sequencing Primer
(F):5'- CACTAGCACTGAAGACATGATTGG -3'
(R):5'- CTGTCATAGGCCATGGCTGTC -3'

Posted On

2016-08-04