Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Or5ac21'

530616

Institutional Source

Beutler Lab

Gene Symbol

Or5ac21

Ensembl Gene

ENSMUSG00000068182

Gene Name

olfactory receptor family 5 subfamily AC member 21

Synonyms

GA_x54KRFPKG5P-55517445-55518365, Olfr203, MOR182-5

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59123518-59124438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59124004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 164 (F164L)

Ref Sequence

ENSEMBL: ENSMUSP00000086719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089305] [ENSMUST00000215893]

AlphaFold

L7N205

Predicted Effect

probably benign
Transcript: ENSMUST00000089305
AA Change: F164L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: F164L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1e-46	PFAM
Pfam:7tm_1	41	290	7.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215893
AA Change: F163L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,477,112 (GRCm39)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,810,082 (GRCm39)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Pcbp4	C	A	9: 106,337,847 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Snw1	T	C	12: 87,511,480 (GRCm39)	D57G	probably damaging	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,083,585 (GRCm39)	R190C	probably damaging	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,228,050 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	probably damaging	Het

Other mutations in Or5ac21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Or5ac21	APN	16	59,123,996 (GRCm39)	missense	probably damaging	0.99
IGL02294:Or5ac21	APN	16	59,123,975 (GRCm39)	missense	probably damaging	1.00
IGL02412:Or5ac21	APN	16	59,123,555 (GRCm39)	missense	probably damaging	1.00
IGL02899:Or5ac21	APN	16	59,123,649 (GRCm39)	missense	probably damaging	1.00
R0792:Or5ac21	UTSW	16	59,124,352 (GRCm39)	missense	probably damaging	0.99
R1551:Or5ac21	UTSW	16	59,123,766 (GRCm39)	missense	probably benign	0.03
R1701:Or5ac21	UTSW	16	59,123,651 (GRCm39)	missense	probably benign	0.23
R1975:Or5ac21	UTSW	16	59,124,091 (GRCm39)	missense	probably damaging	0.98
R2272:Or5ac21	UTSW	16	59,123,807 (GRCm39)	missense	possibly damaging	0.55
R5199:Or5ac21	UTSW	16	59,124,103 (GRCm39)	missense	probably benign
R5843:Or5ac21	UTSW	16	59,123,724 (GRCm39)	missense	probably damaging	1.00
R5928:Or5ac21	UTSW	16	59,123,521 (GRCm39)	missense	probably damaging	1.00
R6708:Or5ac21	UTSW	16	59,124,416 (GRCm39)	missense	probably damaging	1.00
R6894:Or5ac21	UTSW	16	59,124,142 (GRCm39)	missense	probably damaging	0.98
R7324:Or5ac21	UTSW	16	59,123,611 (GRCm39)	missense	probably benign
R7380:Or5ac21	UTSW	16	59,124,391 (GRCm39)	missense	probably damaging	1.00
R7612:Or5ac21	UTSW	16	59,123,990 (GRCm39)	missense	probably damaging	1.00
R7775:Or5ac21	UTSW	16	59,123,614 (GRCm39)	missense	probably damaging	1.00
R8010:Or5ac21	UTSW	16	59,123,867 (GRCm39)	missense	probably damaging	1.00
R8408:Or5ac21	UTSW	16	59,124,418 (GRCm39)	nonsense	probably null
R8424:Or5ac21	UTSW	16	59,123,772 (GRCm39)	missense	possibly damaging	0.60
R8746:Or5ac21	UTSW	16	59,123,973 (GRCm39)	missense	probably benign	0.03
Z1176:Or5ac21	UTSW	16	59,123,532 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGCAACTACAGAATGTTTCCTTC -3'
(R):5'- GCAGGTGGAGAAGGCTTTTC -3'

Sequencing Primer
(F):5'- ACAGAATGTTTCCTTCTGGTAGC -3'
(R):5'- TTTGTTTTCAGGATGGAAAAGAGGAC -3'

Posted On

2018-08-01