Mutagenetix > Incidental Mutation

Incidental Mutation 'R1104:Or51l4'

98366

Institutional Source

Beutler Lab

Gene Symbol

Or51l4

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor family 51 subfamily L member 4

Synonyms

Olfr630, MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

MMRRC Submission

039177-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103403357-103406557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103404183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 203 (V203A)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106880]

AlphaFold

Q9EQQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000052826
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: V203A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106880
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: V203A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	8.4e-25	PFAM
Pfam:7tm_4	144	287	9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217072

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930550C14Rik	A	G	9: 53,332,917 (GRCm39)	I93V	probably benign	Het
Abcg5	A	C	17: 84,989,477 (GRCm39)	I77S	possibly damaging	Het
Adam3	T	C	8: 25,171,545 (GRCm39)	Y762C	probably benign	Het
Agap1	T	C	1: 89,716,962 (GRCm39)	S26P	probably damaging	Het
Ago1	T	C	4: 126,347,426 (GRCm39)	Y441C	probably damaging	Het
B3gnt3	A	G	8: 72,146,481 (GRCm39)	L16S	possibly damaging	Het
Btaf1	T	A	19: 36,982,002 (GRCm39)	D1677E	probably damaging	Het
Cd5l	T	A	3: 87,268,206 (GRCm39)	S18T	probably benign	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Cfap61	C	A	2: 145,792,981 (GRCm39)	S64*	probably null	Het
Cryzl2	T	A	1: 157,298,174 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dhrs1	T	C	14: 55,981,162 (GRCm39)	K83E	probably benign	Het
Dmrt2	T	A	19: 25,655,980 (GRCm39)	F526L	probably benign	Het
Dnajb14	T	A	3: 137,614,115 (GRCm39)	M342K	possibly damaging	Het
Dpf3	A	G	12: 83,378,761 (GRCm39)	V101A	probably benign	Het
Dthd1	A	C	5: 62,979,302 (GRCm39)	T321P	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fras1	G	A	5: 96,856,530 (GRCm39)	R1971Q	probably benign	Het
Fry	A	G	5: 150,419,754 (GRCm39)	N608S	probably damaging	Het
Gabrr3	T	A	16: 59,281,998 (GRCm39)	V451D	probably damaging	Het
Glg1	A	G	8: 111,924,235 (GRCm39)	L251P	probably benign	Het
Gli2	T	A	1: 118,781,080 (GRCm39)	S222C	probably damaging	Het
Gsr	A	G	8: 34,159,949 (GRCm39)	E99G	probably damaging	Het
H1f5	T	C	13: 21,964,451 (GRCm39)	T92A	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hus1b	T	C	13: 31,131,679 (GRCm39)		probably benign	Het
Igf1r	T	A	7: 67,844,774 (GRCm39)	I849N	possibly damaging	Het
Itih5	A	G	2: 10,256,323 (GRCm39)	T930A	probably benign	Het
Ivns1abp	T	A	1: 151,235,860 (GRCm39)	M309K	probably benign	Het
Kdm3b	T	A	18: 34,952,864 (GRCm39)	F1078Y	probably damaging	Het
Krt12	C	A	11: 99,312,792 (GRCm39)	G84V	unknown	Het
Krt40	T	G	11: 99,431,059 (GRCm39)	E150A	probably damaging	Het
Lcn11	G	T	2: 25,669,115 (GRCm39)		probably benign	Het
Lcor	G	T	19: 41,574,502 (GRCm39)	G1086C	probably damaging	Het
Liph	A	G	16: 21,802,898 (GRCm39)	I57T	possibly damaging	Het
Lrrc46	C	T	11: 96,926,997 (GRCm39)	V107M	probably damaging	Het
Ltb4r1	T	C	14: 56,004,832 (GRCm39)	I45T	probably damaging	Het
Mapkbp1	A	G	2: 119,841,554 (GRCm39)		probably benign	Het
Mark3	C	T	12: 111,584,831 (GRCm39)		probably benign	Het
Mug2	C	T	6: 122,036,014 (GRCm39)	A642V	probably benign	Het
Myh11	A	G	16: 14,019,991 (GRCm39)	S1814P	possibly damaging	Het
Ndst1	T	A	18: 60,830,218 (GRCm39)	S631C	probably damaging	Het
Nrbf2	A	T	10: 67,103,691 (GRCm39)	D137E	possibly damaging	Het
Or2ag16	A	T	7: 106,351,989 (GRCm39)	M202K	probably benign	Het
Or6c208	T	A	10: 129,224,090 (GRCm39)	M196K	probably benign	Het
Parn	A	G	16: 13,485,449 (GRCm39)	Y16H	probably damaging	Het
Parp14	A	G	16: 35,664,785 (GRCm39)		probably benign	Het
Prl3d1	C	T	13: 27,283,992 (GRCm39)	T187I	probably benign	Het
Ptgir	G	A	7: 16,641,055 (GRCm39)		probably null	Het
Rabgap1l	C	T	1: 160,059,445 (GRCm39)		probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnf213	T	C	11: 119,368,055 (GRCm39)	Y4697H	probably benign	Het
Rps6ka4	T	A	19: 6,808,364 (GRCm39)	I598F	probably damaging	Het
Ryr2	C	T	13: 11,684,855 (GRCm39)	V3029M	probably damaging	Het
Slc34a1	T	C	13: 24,003,920 (GRCm39)	F335S	probably damaging	Het
Spata6l	T	C	19: 28,945,032 (GRCm39)	M1V	probably null	Het
Stau2	A	T	1: 16,510,585 (GRCm39)	Y124*	probably null	Het
Tbl3	A	G	17: 24,920,580 (GRCm39)	I652T	probably benign	Het
Trappc3	C	T	4: 126,166,759 (GRCm39)		probably benign	Het
Trim60	A	T	8: 65,454,071 (GRCm39)	F59L	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,648,453 (GRCm39)	F4686S	probably benign	Het
Vcan	T	C	13: 89,840,529 (GRCm39)	T1672A	probably damaging	Het
Vmn1r215	T	A	13: 23,260,758 (GRCm39)	I266N	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,487 (GRCm39)	V657E	possibly damaging	Het
Wdr95	G	T	5: 149,529,802 (GRCm39)	A548S	probably benign	Het
Zfp12	A	G	5: 143,231,500 (GRCm39)	Y609C	probably damaging	Het
Znfx1	C	A	2: 166,897,560 (GRCm39)	E455*	probably null	Het

Other mutations in Or51l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Or51l4	APN	7	103,404,213 (GRCm39)	missense	probably damaging	1.00
IGL01111:Or51l4	APN	7	103,404,580 (GRCm39)	missense	probably benign	0.07
IGL02456:Or51l4	APN	7	103,404,700 (GRCm39)	missense	possibly damaging	0.94
IGL03173:Or51l4	APN	7	103,404,183 (GRCm39)	missense	probably benign	0.00
R1507:Or51l4	UTSW	7	103,404,228 (GRCm39)	missense	probably benign	0.00
R1695:Or51l4	UTSW	7	103,404,131 (GRCm39)	nonsense	probably null
R1966:Or51l4	UTSW	7	103,404,375 (GRCm39)	missense	probably damaging	1.00
R1971:Or51l4	UTSW	7	103,404,527 (GRCm39)	nonsense	probably null
R2696:Or51l4	UTSW	7	103,404,735 (GRCm39)	missense	probably damaging	0.96
R4943:Or51l4	UTSW	7	103,404,503 (GRCm39)	missense	probably benign	0.12
R5622:Or51l4	UTSW	7	103,404,376 (GRCm39)	missense	probably damaging	0.99
R6365:Or51l4	UTSW	7	103,404,402 (GRCm39)	missense	probably benign	0.00
R7592:Or51l4	UTSW	7	103,404,279 (GRCm39)	missense	probably damaging	1.00
R8146:Or51l4	UTSW	7	103,404,510 (GRCm39)	missense	probably damaging	1.00
R8283:Or51l4	UTSW	7	103,404,019 (GRCm39)	missense	possibly damaging	0.51
R8867:Or51l4	UTSW	7	103,403,893 (GRCm39)	nonsense	probably null
R8875:Or51l4	UTSW	7	103,404,462 (GRCm39)	missense	probably damaging	1.00
R9658:Or51l4	UTSW	7	103,404,028 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTGTCTTGACTTGATGACATGCC -3'
(R):5'- AGATTGGAACTGCTGCTCTGCTC -3'

Sequencing Primer
(F):5'- CACACTGTAGATGATTGGGTTAAG -3'
(R):5'- AACTGCTGCTCTGCTCAGAAG -3'

Posted On

2014-01-05