Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Or5al6'

639716

Institutional Source

Beutler Lab

Gene Symbol

Or5al6

Ensembl Gene

ENSMUSG00000075203

Gene Name

olfactory receptor family 5 subfamily AL member 6

Synonyms

Olfr1040, MOR185-12, GA_x6K02T2Q125-47615732-47614791

MMRRC Submission

067689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85976135-85977076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85976538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

Ref Sequence

ENSEMBL: ENSMUSP00000097493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099909]

AlphaFold

A2ARY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099909
AA Change: D180G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097493
Gene: ENSMUSG00000075203
AA Change: D180G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.2e-48	PFAM
Pfam:7tm_1	41	290	5.1e-16	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,543 (GRCm39)	C911S	probably damaging	Het
Abcc4	T	A	14: 118,832,254 (GRCm39)	N792I	possibly damaging	Het
Acacb	A	T	5: 114,345,427 (GRCm39)	H960L	probably benign	Het
Aox1	A	G	1: 58,092,873 (GRCm39)	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,364,392 (GRCm39)	S18G	probably benign	Het
Chfr	T	A	5: 110,300,300 (GRCm39)	I348N	possibly damaging	Het
Cntln	G	A	4: 85,016,648 (GRCm39)	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,795,971 (GRCm39)	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,572,357 (GRCm39)	M2896K	probably damaging	Het
Elp6	A	G	9: 110,148,755 (GRCm39)	T215A	probably damaging	Het
Esyt2	A	C	12: 116,329,540 (GRCm39)	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,979,393 (GRCm39)	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,362,339 (GRCm39)	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Galnt10	A	G	11: 57,673,032 (GRCm39)	I463V	probably benign	Het
Glce	A	G	9: 61,967,712 (GRCm39)	F480L	probably benign	Het
H2-Aa	A	G	17: 34,506,709 (GRCm39)	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,279,593 (GRCm39)	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,323,086 (GRCm39)		silent	Het
Izumo4	G	T	10: 80,538,572 (GRCm39)	G8V		Het
Klk1b5	T	A	7: 43,869,454 (GRCm39)	L178H	probably damaging	Het
Lama2	T	C	10: 27,343,218 (GRCm39)	N85D	probably benign	Het
Liph	A	C	16: 21,802,721 (GRCm39)	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,058,465 (GRCm39)	V62D	probably damaging	Het
Map3k19	T	A	1: 127,751,528 (GRCm39)	I303F		Het
Mymk	A	G	2: 26,957,868 (GRCm39)		probably benign	Het
Myo10	G	A	15: 25,800,195 (GRCm39)	V1424M	probably damaging	Het
Myof	T	G	19: 37,909,881 (GRCm39)	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Nup214	T	A	2: 31,884,738 (GRCm39)	Y500N	possibly damaging	Het
Pappa2	T	C	1: 158,682,543 (GRCm39)	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,711,030 (GRCm39)	E95G	probably damaging	Het
Phf3	A	T	1: 30,870,138 (GRCm39)	N303K	possibly damaging	Het
Pnn	C	T	12: 59,119,363 (GRCm39)	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,642,508 (GRCm39)	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,175,370 (GRCm39)	M1762K	possibly damaging	Het
Rif1	G	A	2: 51,980,290 (GRCm39)	A496T	noncoding transcript	Het
Rnase13	A	T	14: 52,159,914 (GRCm39)	V75D	probably damaging	Het
Sema3c	G	A	5: 17,881,537 (GRCm39)		probably benign	Het
Sema4c	C	G	1: 36,591,966 (GRCm39)	G266R	probably damaging	Het
Slfn5	A	T	11: 82,847,376 (GRCm39)	D87V	probably damaging	Het
Smpd3	T	C	8: 106,991,290 (GRCm39)	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,271,867 (GRCm39)	V188A	probably benign	Het
Srms	A	G	2: 180,854,343 (GRCm39)	Y75H	probably benign	Het
Tent2	C	T	13: 93,312,077 (GRCm39)	G208S	probably damaging	Het
Tex15	T	C	8: 34,072,390 (GRCm39)	S2646P	probably benign	Het
Togaram1	A	G	12: 65,042,330 (GRCm39)	I1130V	probably benign	Het
Ttf1	A	G	2: 28,954,689 (GRCm39)	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,604,113 (GRCm39)	T827K	probably benign	Het
Zfhx2	T	A	14: 55,302,969 (GRCm39)	T1672S	possibly damaging	Het

Other mutations in Or5al6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Or5al6	APN	2	85,976,955 (GRCm39)	missense	probably benign	0.22
IGL01106:Or5al6	APN	2	85,976,560 (GRCm39)	missense	probably benign	0.09
IGL02193:Or5al6	APN	2	85,977,059 (GRCm39)	missense	probably benign	0.00
IGL02730:Or5al6	APN	2	85,976,443 (GRCm39)	missense	probably benign	0.05
IGL03032:Or5al6	APN	2	85,977,043 (GRCm39)	missense	probably damaging	1.00
IGL03165:Or5al6	APN	2	85,976,412 (GRCm39)	missense	possibly damaging	0.91
R0388:Or5al6	UTSW	2	85,976,974 (GRCm39)	missense	probably damaging	1.00
R2971:Or5al6	UTSW	2	85,976,908 (GRCm39)	missense	probably damaging	0.96
R4168:Or5al6	UTSW	2	85,976,523 (GRCm39)	missense	probably benign	0.03
R4532:Or5al6	UTSW	2	85,976,274 (GRCm39)	missense	possibly damaging	0.77
R5024:Or5al6	UTSW	2	85,976,877 (GRCm39)	missense	probably damaging	1.00
R5175:Or5al6	UTSW	2	85,976,301 (GRCm39)	missense	probably damaging	1.00
R5574:Or5al6	UTSW	2	85,976,535 (GRCm39)	missense	probably damaging	1.00
R6033:Or5al6	UTSW	2	85,976,613 (GRCm39)	missense	probably damaging	0.97
R6033:Or5al6	UTSW	2	85,976,613 (GRCm39)	missense	probably damaging	0.97
R6137:Or5al6	UTSW	2	85,976,313 (GRCm39)	missense	probably benign
R6945:Or5al6	UTSW	2	85,976,428 (GRCm39)	missense	probably damaging	1.00
R6980:Or5al6	UTSW	2	85,976,681 (GRCm39)	nonsense	probably null
R7065:Or5al6	UTSW	2	85,976,345 (GRCm39)	missense	probably damaging	1.00
R9039:Or5al6	UTSW	2	85,976,625 (GRCm39)	missense	probably damaging	1.00
R9224:Or5al6	UTSW	2	85,976,220 (GRCm39)	missense	probably damaging	1.00
R9745:Or5al6	UTSW	2	85,976,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGGCTGCAGGTACATAAAAC -3'
(R):5'- TATGTGGCCATCTGGAACCC -3'

Sequencing Primer
(F):5'- GGCTGCAGGTACATAAAACTTACTG -3'
(R):5'- GGAACCCTCTGCTCTATGTGG -3'

Posted On

2020-07-28