Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Or5ae1'

672343

Institutional Source

Beutler Lab

Gene Symbol

Or5ae1

Ensembl Gene

ENSMUSG00000116179

Gene Name

olfactory receptor family 5 subfamily AE member 1

Synonyms

Olfr290, GA_x6K02T2NHDJ-11170115-11169168, MOR254-1

MMRRC Submission

068725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84564989-84565936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84565626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 213 (I213N)

Ref Sequence

ENSEMBL: ENSMUSP00000149523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073468
AA Change: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: I213N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	309	8.4e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.2e-10	PFAM
Pfam:7tm_1	41	291	1.3e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173463

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214501
AA Change: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216184
AA Change: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216367
AA Change: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

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

Validation Efficiency

99% (82/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,452 (GRCm39)	S1408P	probably damaging	Het
Acap3	T	C	4: 155,990,169 (GRCm39)	V783A	probably damaging	Het
Akap8	T	C	17: 32,525,504 (GRCm39)	N525S	probably damaging	Het
Aqp1	C	T	6: 55,313,606 (GRCm39)	T44M	probably damaging	Het
Arap1	T	C	7: 101,053,585 (GRCm39)	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,300,651 (GRCm39)	S743A	probably benign	Het
AW551984	G	T	9: 39,511,307 (GRCm39)	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,164,587 (GRCm39)	P802T	possibly damaging	Het
Brd8	C	A	18: 34,743,002 (GRCm39)	V288L	probably benign	Het
Carmil2	T	C	8: 106,412,947 (GRCm39)		probably null	Het
Catspere2	G	A	1: 177,905,048 (GRCm39)	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,542,737 (GRCm39)	R379Q	probably benign	Het
Cd200l1	T	C	16: 45,264,199 (GRCm39)	T120A	probably benign	Het
Cdh16	A	G	8: 105,341,136 (GRCm39)	L116P	probably damaging	Het
Cenpj	A	T	14: 56,796,076 (GRCm39)	H260Q	possibly damaging	Het
Cenpq	A	G	17: 41,244,027 (GRCm39)	V17A	possibly damaging	Het
Cep350	T	C	1: 155,803,862 (GRCm39)	K1074E	probably damaging	Het
Chil4	C	A	3: 106,109,121 (GRCm39)	C394F	probably damaging	Het
Chst9	T	C	18: 15,850,983 (GRCm39)	I28V	probably benign	Het
Clasp2	C	A	9: 113,728,649 (GRCm39)	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,158,269 (GRCm39)	M45K	probably benign	Het
Cmya5	T	A	13: 93,200,048 (GRCm39)	T3427S	possibly damaging	Het
Cnih4	A	G	1: 180,989,777 (GRCm39)	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,281,506 (GRCm39)	M529K	probably damaging	Het
Crppa	A	T	12: 36,440,481 (GRCm39)	N130Y	probably damaging	Het
Ctsr	T	A	13: 61,309,639 (GRCm39)	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 95,945,153 (GRCm39)	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,613,265 (GRCm39)	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,926,764 (GRCm39)	I226F	probably benign	Het
Efcab3	A	T	11: 104,805,721 (GRCm39)	N3076I	unknown	Het
Ehd2	A	G	7: 15,691,603 (GRCm39)	V243A	probably benign	Het
Etnk2	T	A	1: 133,306,232 (GRCm39)	Y353N	probably benign	Het
Fgg	G	T	3: 82,920,322 (GRCm39)	G367V	probably damaging	Het
Gm9772	T	C	17: 22,225,310 (GRCm39)	*61Q	probably null	Het
Grk5	T	G	19: 61,078,432 (GRCm39)	D496E	possibly damaging	Het
Hc	T	C	2: 34,909,535 (GRCm39)	N915S	probably benign	Het
Iah1	G	T	12: 21,367,388 (GRCm39)	Q31H	probably benign	Het
Insr	T	C	8: 3,219,714 (GRCm39)	D936G	probably benign	Het
Ints6	A	C	14: 62,939,902 (GRCm39)	V596G	probably benign	Het
Kcnj16	A	G	11: 110,915,677 (GRCm39)	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,706,771 (GRCm39)	I928F	probably damaging	Het
Lrrc41	C	T	4: 115,932,488 (GRCm39)		probably benign	Het
Lrrc8e	G	A	8: 4,285,070 (GRCm39)	V432I	probably benign	Het
Mamdc4	T	C	2: 25,458,501 (GRCm39)	E336G	probably benign	Het
Maml2	C	A	9: 13,532,918 (GRCm39)	Q711K		Het
Map3k14	T	C	11: 103,118,498 (GRCm39)	T563A	possibly damaging	Het
Mcu	T	A	10: 59,303,535 (GRCm39)	K101*	probably null	Het
Mettl22	T	A	16: 8,303,792 (GRCm39)	V286E	probably damaging	Het
Mon2	A	T	10: 122,845,516 (GRCm39)	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,587,851 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,170,344 (GRCm39)	L117F	probably damaging	Het
Myo1d	C	A	11: 80,565,758 (GRCm39)	V356F	probably damaging	Het
Myo1d	T	A	11: 80,567,758 (GRCm39)	I241F	probably benign	Het
Naalad2	A	T	9: 18,297,230 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,552,853 (GRCm39)	T113A	probably benign	Het
Nrap	T	A	19: 56,352,843 (GRCm39)		probably benign	Het
Or10b1	G	A	10: 78,356,284 (GRCm39)	V281M	possibly damaging	Het
Or2z2	T	C	11: 58,345,936 (GRCm39)	T280A	possibly damaging	Het
Or56b2	T	A	7: 104,337,387 (GRCm39)	I55N	probably damaging	Het
Or5w1	T	C	2: 87,486,591 (GRCm39)	I225V	possibly damaging	Het
Or6z3	T	C	7: 6,463,763 (GRCm39)	L85P	probably damaging	Het
Osbpl3	T	C	6: 50,328,852 (GRCm39)	D117G	probably damaging	Het
Parp9	C	T	16: 35,773,981 (GRCm39)	R318*	probably null	Het
Pcdhb18	A	G	18: 37,623,374 (GRCm39)	I235V	probably benign	Het
Pex16	T	G	2: 92,209,366 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,248,034 (GRCm39)	M489L	probably benign	Het
Pmepa1	C	A	2: 173,069,628 (GRCm39)	G271V	probably damaging	Het
Safb	A	G	17: 56,910,579 (GRCm39)	E659G	unknown	Het
Scn9a	T	C	2: 66,332,010 (GRCm39)	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,617,596 (GRCm39)	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,660,240 (GRCm39)	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,213,452 (GRCm39)	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,206,182 (GRCm39)	M315I	probably benign	Het
Slc9b2	A	G	3: 135,035,530 (GRCm39)	D333G	probably benign	Het
Sostdc1	A	G	12: 36,367,229 (GRCm39)	N135S	possibly damaging	Het
Spg11	T	G	2: 121,901,425 (GRCm39)	D1505A	probably damaging	Het
Spmip8	A	T	8: 96,047,883 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,869,279 (GRCm39)	N34S	probably benign	Het
Tcerg1l	C	A	7: 137,811,526 (GRCm39)	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,518,763 (GRCm39)	K311R	probably benign	Het
Trbv16	T	G	6: 41,128,972 (GRCm39)	F52C	probably damaging	Het
Ttn	T	A	2: 76,726,016 (GRCm39)	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818 (GRCm39)	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,219,082 (GRCm39)	I192T	probably benign	Het
Vmn2r67	C	T	7: 84,786,346 (GRCm39)	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,784,121 (GRCm39)	H452N	possibly damaging	Het

Other mutations in Or5ae1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Or5ae1	APN	7	84,565,578 (GRCm39)	missense	probably damaging	0.99
IGL01322:Or5ae1	APN	7	84,565,590 (GRCm39)	missense	probably damaging	0.99
IGL01834:Or5ae1	APN	7	84,565,860 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or5ae1	APN	7	84,565,567 (GRCm39)	nonsense	probably null
IGL03246:Or5ae1	APN	7	84,565,919 (GRCm39)	missense	probably benign	0.03
IGL03255:Or5ae1	APN	7	84,565,725 (GRCm39)	missense	possibly damaging	0.95
R0322:Or5ae1	UTSW	7	84,565,521 (GRCm39)	missense	probably damaging	1.00
R1253:Or5ae1	UTSW	7	84,565,917 (GRCm39)	missense	probably benign
R1652:Or5ae1	UTSW	7	84,565,728 (GRCm39)	missense	probably damaging	1.00
R1673:Or5ae1	UTSW	7	84,565,325 (GRCm39)	missense	probably damaging	0.97
R1891:Or5ae1	UTSW	7	84,565,461 (GRCm39)	missense	possibly damaging	0.93
R1895:Or5ae1	UTSW	7	84,565,487 (GRCm39)	missense	probably benign	0.01
R1946:Or5ae1	UTSW	7	84,565,487 (GRCm39)	missense	probably benign	0.01
R2128:Or5ae1	UTSW	7	84,565,701 (GRCm39)	missense	probably damaging	1.00
R4435:Or5ae1	UTSW	7	84,565,229 (GRCm39)	missense	probably benign	0.45
R4822:Or5ae1	UTSW	7	84,565,634 (GRCm39)	missense	possibly damaging	0.81
R4834:Or5ae1	UTSW	7	84,565,491 (GRCm39)	missense	probably damaging	1.00
R5354:Or5ae1	UTSW	7	84,565,357 (GRCm39)	nonsense	probably null
R5644:Or5ae1	UTSW	7	84,565,327 (GRCm39)	missense	probably benign	0.15
R5650:Or5ae1	UTSW	7	84,565,626 (GRCm39)	missense	possibly damaging	0.50
R5708:Or5ae1	UTSW	7	84,565,391 (GRCm39)	missense	possibly damaging	0.56
R6585:Or5ae1	UTSW	7	84,565,670 (GRCm39)	missense	probably damaging	0.99
R7774:Or5ae1	UTSW	7	84,565,739 (GRCm39)	missense	probably damaging	0.97
R8126:Or5ae1	UTSW	7	84,565,114 (GRCm39)	missense	probably damaging	1.00
R8443:Or5ae1	UTSW	7	84,565,787 (GRCm39)	missense	probably benign	0.00
R8709:Or5ae1	UTSW	7	84,565,671 (GRCm39)	missense	probably damaging	1.00
R8729:Or5ae1	UTSW	7	84,565,523 (GRCm39)	missense	probably damaging	0.99
R8779:Or5ae1	UTSW	7	84,565,397 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- CAGCTGGGTTTCTGAACTCC -3'
(R):5'- ATGGGAGTAATGACCCCATACAAC -3'

Sequencing Primer
(F):5'- GAACTCCTTTGTCCACACAATG -3'
(R):5'- AGAGATGAGTCTGTCTCTACCAG -3'

Posted On

2021-04-30