Mutagenetix > Incidental Mutation

Incidental Mutation 'R9691:Or5an11'

729191

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12245596-12246534 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 12246379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 262 (R262*)

Ref Sequence

ENSEMBL: ENSMUSP00000146532 (fasta)

Gene Model

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

AlphaFold

E9Q9Z6

Predicted Effect

probably null
Transcript: ENSMUST00000073507
AA Change: R262*

SMART Domains

Protein: ENSMUSP00000073203
Gene: ENSMUSG00000060049
AA Change: R262*

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

probably null
Transcript: ENSMUST00000207969
AA Change: R262*

Predicted Effect

probably null
Transcript: ENSMUST00000214551
AA Change: R262*

Predicted Effect

probably null
Transcript: ENSMUST00000214613
AA Change: R262*

Predicted Effect

probably null
Transcript: ENSMUST00000214638
AA Change: R262*

Predicted Effect

probably null
Transcript: ENSMUST00000215407
AA Change: R262*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,989,090 (GRCm39)	M3458T	possibly damaging	Het
Akap9	T	G	5: 4,010,491 (GRCm39)	L398R	probably damaging	Het
Anks3	A	T	16: 4,759,840 (GRCm39)	C635S	probably benign	Het
Ankzf1	C	A	1: 75,175,196 (GRCm39)	Q649K	probably benign	Het
Atp8a2	T	C	14: 60,245,829 (GRCm39)	E621G	probably damaging	Het
Bscl2	A	G	19: 8,817,110 (GRCm39)	T13A	probably benign	Het
Cd109	T	C	9: 78,611,074 (GRCm39)	L1230P	possibly damaging	Het
Celsr2	T	A	3: 108,301,551 (GRCm39)	S2678C	probably damaging	Het
Cnot10	A	G	9: 114,420,715 (GRCm39)	L709P	probably damaging	Het
Col5a1	G	A	2: 27,842,994 (GRCm39)	R449Q	unknown	Het
Cyp3a25	T	A	5: 145,931,732 (GRCm39)	E125D	probably benign	Het
Ddx50	T	G	10: 62,476,524 (GRCm39)	I250L	probably benign	Het
Dnah10	A	G	5: 124,852,249 (GRCm39)	N1859S	probably damaging	Het
Dnajc13	A	G	9: 104,042,211 (GRCm39)	L2008P	probably damaging	Het
Dock4	C	T	12: 40,686,097 (GRCm39)	L111F	probably damaging	Het
Ffar3	C	G	7: 30,555,119 (GRCm39)	R67P	probably damaging	Het
Gdap2	C	T	3: 100,109,441 (GRCm39)	A486V	probably benign	Het
Gm45871	G	A	18: 90,610,111 (GRCm39)	V450M	possibly damaging	Het
Golgb1	T	A	16: 36,718,996 (GRCm39)	S342T	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Grm5	T	C	7: 87,723,903 (GRCm39)	I731T	probably damaging	Het
Gxylt2	A	T	6: 100,760,109 (GRCm39)	T215S	probably damaging	Het
Jakmip2	A	T	18: 43,673,685 (GRCm39)	I793N	probably damaging	Het
Kcnc1	C	A	7: 46,076,955 (GRCm39)	C252*	probably null	Het
Kdr	T	A	5: 76,129,521 (GRCm39)	D122V	probably damaging	Het
Kmt2a	G	A	9: 44,731,557 (GRCm39)	P2920L	unknown	Het
Lrrc31	T	C	3: 30,741,617 (GRCm39)	E264G	probably damaging	Het
Mbnl1	A	G	3: 60,529,614 (GRCm39)	T256A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Ndst4	A	G	3: 125,518,344 (GRCm39)	N155S	unknown	Het
Negr1	T	C	3: 156,267,898 (GRCm39)	C23R	probably damaging	Het
Nfia	T	A	4: 97,671,465 (GRCm39)	D58E	probably damaging	Het
Nrp1	A	T	8: 129,202,650 (GRCm39)	N545I	probably damaging	Het
Nrtn	T	A	17: 57,059,480 (GRCm39)		probably benign	Het
Or2a14	A	G	6: 43,130,629 (GRCm39)	H130R	probably benign	Het
Or4c100	T	C	2: 88,356,421 (GRCm39)	F165L	probably benign	Het
Pclo	G	A	5: 14,727,558 (GRCm39)	D2139N	unknown	Het
Phlpp1	C	T	1: 106,246,699 (GRCm39)	Q630*	probably null	Het
Pkd1	T	C	17: 24,796,812 (GRCm39)	V2429A	possibly damaging	Het
Pramel20	T	A	4: 143,299,328 (GRCm39)	H330Q	probably benign	Het
Pramel30	T	C	4: 144,056,844 (GRCm39)	L9P	probably damaging	Het
Prkch	A	G	12: 73,805,730 (GRCm39)	K502E	probably damaging	Het
Rad51ap2	A	G	12: 11,509,413 (GRCm39)	K930E	possibly damaging	Het
Reep4	T	A	14: 70,785,683 (GRCm39)	N204K	probably benign	Het
Rin2	T	C	2: 145,690,764 (GRCm39)	L144P	probably damaging	Het
Scfd2	T	C	5: 74,691,611 (GRCm39)	S224G	possibly damaging	Het
Srprb	A	G	9: 103,069,481 (GRCm39)	Y158H	probably damaging	Het
Thbs4	T	A	13: 92,890,896 (GRCm39)	H857L	probably damaging	Het
Tmem184a	A	G	5: 139,798,790 (GRCm39)	L77P	possibly damaging	Het
Trbv26	G	T	6: 41,204,478 (GRCm39)	C7F	probably benign	Het
Trip11	A	G	12: 101,850,123 (GRCm39)	S1314P	probably benign	Het
Ttc28	A	T	5: 111,431,879 (GRCm39)	T1951S	probably benign	Het
Ttc29	A	C	8: 78,972,895 (GRCm39)	D115A	possibly damaging	Het
Upf2	G	A	2: 6,032,024 (GRCm39)	V857I	unknown	Het
Vmn2r43	A	G	7: 8,247,787 (GRCm39)	V792A	probably damaging	Het
Washc5	A	T	15: 59,218,706 (GRCm39)	I687N	probably damaging	Het
Wwc2	G	A	8: 48,281,799 (GRCm39)		probably benign	Het
Xirp2	G	A	2: 67,340,539 (GRCm39)	E927K	possibly damaging	Het
Zc3hav1l	A	G	6: 38,276,112 (GRCm39)	F22L	probably benign	Het
Zfp407	C	T	18: 84,578,312 (GRCm39)	A934T	probably benign	Het
Zfp986	T	A	4: 145,626,070 (GRCm39)	S243R	probably benign	Het
Zfyve9	T	C	4: 108,576,305 (GRCm39)	T259A	probably benign	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
R5382:Or5an11	UTSW	19	12,245,773 (GRCm39)	missense	possibly damaging	0.62
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
R9738:Or5an11	UTSW	19	12,245,869 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GTGTTTTGGAATAGCAAATGCC -3'
(R):5'- CCATCCATGTGCATGTGAGTG -3'

Sequencing Primer
(F):5'- TGGAATAGCAAATGCCTTAGCC -3'
(R):5'- GCAGTAAATCTGACATGGCATTTTG -3'

Posted On

2022-10-06