Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Or51a6'

485769

Institutional Source

Beutler Lab

Gene Symbol

Or51a6

Ensembl Gene

ENSMUSG00000066269

Gene Name

olfactory receptor family 51 subfamily A member 6

Synonyms

GA_x6K02T2PBJ9-5666843-5665908, MOR8-1, Olfr575

MMRRC Submission

044269-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102603871-102604827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102604737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 24 (Y24H)

Ref Sequence

ENSEMBL: ENSMUSP00000150074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084812] [ENSMUST00000209778] [ENSMUST00000213477] [ENSMUST00000216420]

AlphaFold

Q8VH16

Predicted Effect

probably benign
Transcript: ENSMUST00000084812
AA Change: Y31H

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

SMART Domains

Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: Y31H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	318	4.6e-112	PFAM
Pfam:7TM_GPCR_Srsx	44	312	2.6e-10	PFAM
Pfam:7tm_1	50	300	6.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209778
AA Change: Y24H

Predicted Effect

probably benign
Transcript: ENSMUST00000213477
AA Change: Y24H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216420
AA Change: Y24H

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,750 (GRCm39)	*301W	probably null	Het
Abat	A	G	16: 8,423,414 (GRCm39)	I236V	probably benign	Het
Abca8a	T	C	11: 109,961,249 (GRCm39)	T558A	probably benign	Het
Ace3	A	C	11: 105,885,764 (GRCm39)	M57L	probably benign	Het
Adgrg1	T	C	8: 95,729,129 (GRCm39)	S18P	probably benign	Het
Ahi1	A	G	10: 20,934,064 (GRCm39)	D60G	probably benign	Het
Ap4e1	T	A	2: 126,870,080 (GRCm39)		probably null	Het
Arnt2	C	A	7: 84,010,773 (GRCm39)	K34N	probably damaging	Het
Ascc3	T	A	10: 50,494,021 (GRCm39)	M152K	probably benign	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Blvrb	G	A	7: 27,158,773 (GRCm39)	A58T	possibly damaging	Het
Bpifa1	C	T	2: 153,985,892 (GRCm39)	T69I	probably benign	Het
Cacna1g	T	A	11: 94,320,997 (GRCm39)	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,880 (GRCm39)	I361V	probably benign	Het
Clca4b	T	A	3: 144,631,927 (GRCm39)	I193F	possibly damaging	Het
Crb1	A	T	1: 139,176,686 (GRCm39)	Y371*	probably null	Het
Cul9	T	C	17: 46,832,854 (GRCm39)	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,332,877 (GRCm39)	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,086,637 (GRCm39)	S780T	probably benign	Het
Fzd5	G	T	1: 64,774,815 (GRCm39)	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695 (GRCm39)	S340P	probably damaging	Het
Galnt7	T	C	8: 57,979,200 (GRCm39)	D641G	probably damaging	Het
Gm7133	A	G	1: 97,110,948 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,120,602 (GRCm39)	L774P	possibly damaging	Het
Itch	T	A	2: 155,015,985 (GRCm39)	S157T	probably benign	Het
Itgam	A	C	7: 127,684,824 (GRCm39)	D398A	probably damaging	Het
Kalrn	G	T	16: 33,805,561 (GRCm39)	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,468,875 (GRCm39)	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,758,573 (GRCm39)		probably benign	Het
Krt1c	G	C	15: 101,724,349 (GRCm39)	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Naf1	T	A	8: 67,336,096 (GRCm39)	I341K	probably damaging	Het
Nbea	G	T	3: 55,937,317 (GRCm39)	H765N	probably damaging	Het
Ncapd3	A	G	9: 26,975,278 (GRCm39)	I776V	probably benign	Het
Neo1	A	T	9: 58,824,291 (GRCm39)	D712E	probably benign	Het
Neu1	G	A	17: 35,153,730 (GRCm39)	V385I	probably benign	Het
Or14j3	C	A	17: 37,900,817 (GRCm39)	R142S	probably benign	Het
Pgghg	A	C	7: 140,523,308 (GRCm39)	T196P	possibly damaging	Het
Pira2	A	T	7: 3,845,445 (GRCm39)	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,809,107 (GRCm39)	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509 (GRCm39)	N21K	probably damaging	Het
Prune1	T	C	3: 95,169,554 (GRCm39)	D216G	probably benign	Het
Ptpn23	G	T	9: 110,216,893 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,301,351 (GRCm39)	M668K	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpsa	G	T	9: 119,960,102 (GRCm39)	V222L	probably benign	Het
Septin2	A	G	1: 93,425,098 (GRCm39)	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,445,384 (GRCm39)	D260V	probably damaging	Het
Srrm2	G	T	17: 24,039,330 (GRCm39)	M2087I	possibly damaging	Het
Tg	T	C	15: 66,700,306 (GRCm39)	L88P	probably damaging	Het
Tns1	A	G	1: 73,991,578 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,224,160 (GRCm39)	D1429V	probably benign	Het
Tprg1	A	G	16: 25,241,151 (GRCm39)		probably null	Het
Trit1	T	C	4: 122,933,261 (GRCm39)	I66T	possibly damaging	Het
Usf3	A	T	16: 44,037,670 (GRCm39)	I717L	probably damaging	Het

Other mutations in Or51a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Or51a6	APN	7	102,604,311 (GRCm39)	missense	probably benign	0.01
IGL02583:Or51a6	APN	7	102,603,918 (GRCm39)	missense	possibly damaging	0.96
R0003:Or51a6	UTSW	7	102,604,185 (GRCm39)	missense	probably benign
R1553:Or51a6	UTSW	7	102,604,425 (GRCm39)	missense	possibly damaging	0.87
R1641:Or51a6	UTSW	7	102,604,175 (GRCm39)	missense	probably benign	0.07
R1993:Or51a6	UTSW	7	102,603,953 (GRCm39)	missense	probably damaging	1.00
R4279:Or51a6	UTSW	7	102,604,292 (GRCm39)	missense	probably benign	0.03
R4905:Or51a6	UTSW	7	102,604,721 (GRCm39)	missense	probably damaging	0.96
R5992:Or51a6	UTSW	7	102,604,216 (GRCm39)	missense	probably benign	0.25
R6122:Or51a6	UTSW	7	102,604,011 (GRCm39)	missense	probably damaging	0.99
R6391:Or51a6	UTSW	7	102,604,622 (GRCm39)	missense	possibly damaging	0.66
R6685:Or51a6	UTSW	7	102,604,888 (GRCm39)	splice site	probably null
R7109:Or51a6	UTSW	7	102,604,460 (GRCm39)	missense	probably damaging	1.00
R7117:Or51a6	UTSW	7	102,604,185 (GRCm39)	missense	probably benign
R7901:Or51a6	UTSW	7	102,604,887 (GRCm39)	critical splice acceptor site	probably null
R8136:Or51a6	UTSW	7	102,604,448 (GRCm39)	missense	probably damaging	1.00
R8299:Or51a6	UTSW	7	102,604,739 (GRCm39)	missense	probably damaging	1.00
R9063:Or51a6	UTSW	7	102,604,446 (GRCm39)	missense	probably benign	0.42
R9523:Or51a6	UTSW	7	102,604,464 (GRCm39)	missense	probably damaging	1.00
R9655:Or51a6	UTSW	7	102,604,319 (GRCm39)	missense	probably damaging	0.99
R9671:Or51a6	UTSW	7	102,604,633 (GRCm39)	missense	probably benign	0.27
Z1177:Or51a6	UTSW	7	102,604,183 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGCATTTGGGGAGATTCC -3'
(R):5'- TGTCTCTCCGGCATATGTGG -3'

Sequencing Primer
(F):5'- GAGATTCCTGTGGCATTGAACAC -3'
(R):5'- CTCTCCGGCATATGTGGTAAAAG -3'

Posted On

2017-08-16