Mutagenetix > Incidental Mutation

Incidental Mutation 'R1641:Or51a6'

173536

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

039677-MU

Accession Numbers

Essential gene?

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

Stock #

R1641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102603871-102604827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102604175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 218 (D218V)

Ref Sequence

ENSEMBL: ENSMUSP00000081873 (fasta)

Gene Model

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

AlphaFold

Q8VH16

Predicted Effect

probably benign
Transcript: ENSMUST00000084812
AA Change: D218V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: D218V

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: D211V

Predicted Effect

probably benign
Transcript: ENSMUST00000213477
AA Change: D211V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000216420
AA Change: D211V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,039,626 (GRCm39)	T228S	probably benign	Het
Adamts2	C	T	11: 50,683,612 (GRCm39)	P965S	probably damaging	Het
Ankrd11	A	G	8: 123,618,485 (GRCm39)	I1768T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Baz2b	A	T	2: 59,743,234 (GRCm39)	L1579Q	probably damaging	Het
Btbd7	A	G	12: 102,757,034 (GRCm39)	V684A	probably damaging	Het
Camk1g	T	A	1: 193,038,665 (GRCm39)	I86F	probably benign	Het
Capn13	A	T	17: 73,689,889 (GRCm39)	S41T	possibly damaging	Het
Cep192	C	A	18: 67,980,504 (GRCm39)	L1422I	probably damaging	Het
Chaf1a	T	C	17: 56,354,380 (GRCm39)	F217L	unknown	Het
Clca3b	A	T	3: 144,529,274 (GRCm39)	M800K	possibly damaging	Het
Cplane1	A	G	15: 8,258,443 (GRCm39)	T2230A	probably benign	Het
Crocc	A	G	4: 140,744,388 (GRCm39)	V1836A	probably benign	Het
Csmd2	G	A	4: 128,377,188 (GRCm39)	V2023M	possibly damaging	Het
Cul9	A	G	17: 46,854,486 (GRCm39)	V72A	possibly damaging	Het
Ddx52	T	C	11: 83,834,269 (GRCm39)		probably null	Het
Dennd5b	A	C	6: 148,969,703 (GRCm39)	V250G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gtpbp4	A	T	13: 9,023,285 (GRCm39)	M593K	probably benign	Het
Il21	A	G	3: 37,286,681 (GRCm39)	F12L	probably benign	Het
Lrit2	T	A	14: 36,791,105 (GRCm39)	N261K	probably benign	Het
Lrrc39	G	T	3: 116,364,562 (GRCm39)	C151F	probably damaging	Het
Lsm14a	C	A	7: 34,050,799 (GRCm39)	R426L	probably damaging	Het
Maml1	G	A	11: 50,157,774 (GRCm39)	P134S	probably benign	Het
Map3k13	T	C	16: 21,722,542 (GRCm39)	C235R	probably damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nsmaf	T	C	4: 6,409,884 (GRCm39)	E663G	probably benign	Het
Ntrk3	T	C	7: 78,005,822 (GRCm39)	N513S	probably damaging	Het
Nufip1	T	G	14: 76,363,692 (GRCm39)	N305K	possibly damaging	Het
Or10al5	C	T	17: 38,062,916 (GRCm39)	T57I	possibly damaging	Het
Or2ag1b	T	A	7: 106,288,918 (GRCm39)	T7S	probably benign	Het
Or4c10b	A	T	2: 89,711,745 (GRCm39)	T192S	probably benign	Het
Or9r3	A	T	10: 129,947,872 (GRCm39)	Y262*	probably null	Het
Pi4ka	A	G	16: 17,194,894 (GRCm39)	V168A	probably benign	Het
Prex2	T	C	1: 11,301,996 (GRCm39)	V1433A	probably damaging	Het
Prl7a1	A	T	13: 27,817,612 (GRCm39)	D217E	probably damaging	Het
Prr3	G	A	17: 36,285,484 (GRCm39)	R86*	probably null	Het
Ptprz1	T	C	6: 23,049,605 (GRCm39)	F1350L	probably damaging	Het
R3hcc1l	T	C	19: 42,552,046 (GRCm39)	S348P	possibly damaging	Het
Rag2	A	T	2: 101,459,960 (GRCm39)	Q90L	probably benign	Het
Scel	T	C	14: 103,770,752 (GRCm39)	L62P	probably damaging	Het
Serpini1	A	T	3: 75,521,977 (GRCm39)	E156V	possibly damaging	Het
Skint4	T	A	4: 111,993,240 (GRCm39)	I321K	possibly damaging	Het
Slc28a2	A	G	2: 122,286,098 (GRCm39)	D478G	probably damaging	Het
Sppl2b	G	T	10: 80,700,965 (GRCm39)	V164F	probably damaging	Het
Traf5	T	A	1: 191,729,470 (GRCm39)	N527I	probably benign	Het
Ttc3	T	A	16: 94,244,176 (GRCm39)	D17E	probably benign	Het
Txlnb	G	A	10: 17,682,521 (GRCm39)	A148T	possibly damaging	Het
Ubtf	A	G	11: 102,201,757 (GRCm39)	Y256H	probably damaging	Het
Usp25	T	C	16: 76,868,559 (GRCm39)	F320S	possibly damaging	Het
Utp14b	T	C	1: 78,643,656 (GRCm39)	V518A	probably benign	Het
Utp20	A	G	10: 88,593,834 (GRCm39)	V2192A	possibly damaging	Het
Vmn1r173	T	A	7: 23,402,533 (GRCm39)	M256K	probably benign	Het
Vmn2r114	T	A	17: 23,515,962 (GRCm39)	M510L	probably benign	Het
Xdh	T	A	17: 74,233,547 (GRCm39)	Q189L	probably benign	Het
Zfat	C	T	15: 68,051,959 (GRCm39)	A605T	probably benign	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
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	102,604,737 (GRCm39)	missense	probably benign
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'- TGGCACTAGCAAGAAGATGTCAGC -3'
(R):5'- CCAGTGCAAGAGTCGCCAAAATG -3'

Sequencing Primer
(F):5'- CCATAGGTGACTTGTGCTTGC -3'
(R):5'- GGACTGGTGTTTCTCATTAAAAGC -3'

Posted On

2014-04-24