Mutagenetix > Incidental Mutation

Incidental Mutation 'R8030:Or5al1'

617872

Institutional Source

Beutler Lab

Gene Symbol

Or5al1

Ensembl Gene

ENSMUSG00000075202

Gene Name

olfactory receptor family 5 subfamily AL member 1

Synonyms

Olfr1042, MOR185-10, GA_x6K02T2Q125-47629317-47628376

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85989689-85990785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85990586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 43 (V43I)

Ref Sequence

ENSEMBL: ENSMUSP00000097492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]

AlphaFold

Q7TR81

Predicted Effect

probably benign
Transcript: ENSMUST00000099907

SMART Domains

Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	6.9e-46	PFAM
Pfam:7tm_1	41	290	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099908
AA Change: V43I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: V43I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.2e-48	PFAM
Pfam:7tm_1	41	290	1.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213886

Predicted Effect

probably benign
Transcript: ENSMUST00000213949

Predicted Effect

probably benign
Transcript: ENSMUST00000215624
AA Change: V43I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216028

Coding Region Coverage

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,970 (GRCm39)	S98P	probably benign	Het
Abca9	C	T	11: 110,011,534 (GRCm39)	V1170I	probably benign	Het
Acacb	A	G	5: 114,371,228 (GRCm39)	T1786A	probably damaging	Het
Acmsd	T	C	1: 127,676,898 (GRCm39)	I141T	possibly damaging	Het
Akr1c12	A	G	13: 4,322,244 (GRCm39)	V266A	possibly damaging	Het
Arhgef18	A	T	8: 3,489,600 (GRCm39)	I311F	probably damaging	Het
Armc2	T	A	10: 41,842,738 (GRCm39)	N355I	possibly damaging	Het
Armh1	T	A	4: 117,087,184 (GRCm39)	K160N	probably benign	Het
Asic1	A	T	15: 99,592,722 (GRCm39)	T236S	possibly damaging	Het
Avl9	T	A	6: 56,718,407 (GRCm39)	D424E	probably damaging	Het
Cbfa2t2	A	T	2: 154,357,816 (GRCm39)	Q197L	probably damaging	Het
Ccdc136	T	C	6: 29,417,141 (GRCm39)	V654A	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cplane1	G	T	15: 8,259,787 (GRCm39)	G2383V	probably damaging	Het
Cracr2a	A	G	6: 127,588,386 (GRCm39)	K182E	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Dsc1	A	T	18: 20,222,628 (GRCm39)	S615T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab14	A	G	4: 115,623,599 (GRCm39)	Q390R	probably benign	Het
Eif4ebp2	G	A	10: 61,270,825 (GRCm39)	A68V	probably damaging	Het
Fam81a	A	G	9: 70,010,191 (GRCm39)	S149P	probably benign	Het
Ffar4	A	G	19: 38,095,839 (GRCm39)	I193V	possibly damaging	Het
Flvcr2	T	A	12: 85,845,312 (GRCm39)	V377D	probably damaging	Het
Fscn1	C	T	5: 142,946,756 (GRCm39)	R185C	possibly damaging	Het
Gucy1b2	C	T	14: 62,630,319 (GRCm39)	S809N	probably benign	Het
H60b	T	A	10: 22,163,020 (GRCm39)	N198K	probably damaging	Het
Helz2	A	T	2: 180,879,689 (GRCm39)	F643Y	possibly damaging	Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,526,629 (GRCm39)	V846A	probably benign	Het
Kirrel1	C	A	3: 87,005,082 (GRCm39)	G89W	probably damaging	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mb21d2	A	G	16: 28,646,555 (GRCm39)	F473S	probably damaging	Het
Mcrip2	G	A	17: 26,083,306 (GRCm39)	Q111*	probably null	Het
Msh5	A	G	17: 35,248,724 (GRCm39)	Y741H	possibly damaging	Het
Myo7b	A	G	18: 32,131,135 (GRCm39)	I544T	probably damaging	Het
Nav1	T	C	1: 135,464,977 (GRCm39)	E276G	probably damaging	Het
Nr2f1	T	C	13: 78,343,565 (GRCm39)	N233S	probably benign	Het
Nrip2	A	T	6: 128,383,484 (GRCm39)	D124V	possibly damaging	Het
Or8k16	T	A	2: 85,520,063 (GRCm39)	C97S	probably damaging	Het
Panx2	G	T	15: 88,952,282 (GRCm39)	A250S	probably damaging	Het
Pdc	T	C	1: 150,208,964 (GRCm39)	L149P	probably damaging	Het
Pex5l	T	A	3: 33,008,568 (GRCm39)	I445F	possibly damaging	Het
Pigc	T	C	1: 161,798,116 (GRCm39)	F33L	probably damaging	Het
Pkp2	A	T	16: 16,064,774 (GRCm39)	M433L	probably benign	Het
Rbfox2	A	G	15: 76,969,776 (GRCm39)		probably null	Het
Rd3l	A	G	12: 111,946,584 (GRCm39)	L64P	possibly damaging	Het
Rnf220	A	G	4: 117,135,025 (GRCm39)	Y409H	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,082,938 (GRCm39)	T567A	probably damaging	Het
Slc22a8	T	C	19: 8,587,371 (GRCm39)	I477T	probably damaging	Het
Sltm	C	T	9: 70,493,261 (GRCm39)	R753*	probably null	Het
Specc1l	T	A	10: 75,084,389 (GRCm39)	M687K	probably damaging	Het
Spock3	T	G	8: 63,805,232 (GRCm39)	C338G	probably damaging	Het
Ssh2	C	A	11: 77,345,332 (GRCm39)	Q1106K	probably benign	Het
Sycp2l	A	G	13: 41,326,146 (GRCm39)	M251V	not run	Het
Tdrd5	C	A	1: 156,098,165 (GRCm39)	E711*	probably null	Het
Thop1	T	C	10: 80,911,450 (GRCm39)	M112T	possibly damaging	Het
Tln1	C	T	4: 43,535,737 (GRCm39)		probably null	Het
Ttc28	A	C	5: 111,433,922 (GRCm39)	I2319L	possibly damaging	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Txndc8	T	C	4: 57,984,178 (GRCm39)	E151G	probably damaging	Het
Ubr1	T	C	2: 120,764,855 (GRCm39)	E533G	probably damaging	Het
Zscan4f	A	G	7: 11,135,290 (GRCm39)	H232R	probably benign	Het

Other mutations in Or5al1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01914:Or5al1	APN	2	85,990,391 (GRCm39)	missense	probably benign	0.04
IGL02071:Or5al1	APN	2	85,990,219 (GRCm39)	missense	probably benign
IGL02935:Or5al1	APN	2	85,990,714 (GRCm39)	unclassified	probably benign
IGL03152:Or5al1	APN	2	85,990,030 (GRCm39)	missense	possibly damaging	0.95
R0089:Or5al1	UTSW	2	85,989,918 (GRCm39)	missense	possibly damaging	0.89
R1419:Or5al1	UTSW	2	85,989,773 (GRCm39)	makesense	probably null
R1699:Or5al1	UTSW	2	85,990,280 (GRCm39)	missense	probably benign
R1804:Or5al1	UTSW	2	85,990,417 (GRCm39)	missense	probably benign	0.38
R3162:Or5al1	UTSW	2	85,990,439 (GRCm39)	missense	probably benign	0.03
R3162:Or5al1	UTSW	2	85,990,439 (GRCm39)	missense	probably benign	0.03
R3609:Or5al1	UTSW	2	85,989,976 (GRCm39)	missense	probably benign	0.00
R3953:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3955:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3956:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3957:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R4771:Or5al1	UTSW	2	85,990,417 (GRCm39)	missense	probably benign	0.38
R5685:Or5al1	UTSW	2	85,990,139 (GRCm39)	missense	probably damaging	0.99
R6241:Or5al1	UTSW	2	85,990,380 (GRCm39)	missense	probably damaging	1.00
R6324:Or5al1	UTSW	2	85,989,800 (GRCm39)	missense	probably benign
R6678:Or5al1	UTSW	2	85,990,529 (GRCm39)	missense	probably damaging	0.98
R6921:Or5al1	UTSW	2	85,990,196 (GRCm39)	missense	probably benign	0.02
R7215:Or5al1	UTSW	2	85,989,800 (GRCm39)	missense	probably benign
R7386:Or5al1	UTSW	2	85,989,874 (GRCm39)	missense	possibly damaging	0.83
R9694:Or5al1	UTSW	2	85,990,681 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCACAACTGAGTGGCACATG -3'
(R):5'- TCCAATGCAAGATTCATGAGTCC -3'

Sequencing Primer
(F):5'- CACATGCGTAGAAGGTTATGC -3'
(R):5'- TGCAAGATTCATGAGTCCGAATCG -3'

Posted On

2020-01-23