Mutagenetix > Incidental Mutation

Incidental Mutation 'R5799:Or4l1'

447419

Institutional Source

Beutler Lab

Gene Symbol

Or4l1

Ensembl Gene

ENSMUSG00000093825

Gene Name

olfactory receptor family 4 subfamily L member 1

Synonyms

GA_x6K02T2PMLR-5600424-5599495, Olfr723, MOR247-3P, MOR247-4

MMRRC Submission

043388-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50166020-50167025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50166497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 168 (F168Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164157] [ENSMUST00000206058]

AlphaFold

E9PZU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000164157
AA Change: F168Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129254
Gene: ENSMUSG00000093825
AA Change: F168Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.8e-44	PFAM
Pfam:7TM_GPCR_Srsx	34	302	1.4e-12	PFAM
Pfam:7tm_1	41	287	4.8e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206058
AA Change: F168Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

89% (51/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,668,908 (GRCm39)	Q92*	probably null	Het
Accsl	T	C	2: 93,694,748 (GRCm39)		probably null	Het
Ahnak2	T	C	12: 112,745,365 (GRCm39)		probably benign	Het
Alcam	T	C	16: 52,130,212 (GRCm39)	D46G	probably benign	Het
Asap2	T	C	12: 21,218,247 (GRCm39)	S57P	probably damaging	Het
Atg14	A	T	14: 47,784,752 (GRCm39)	V314D	possibly damaging	Het
C230029F24Rik	C	T	1: 49,377,307 (GRCm39)		noncoding transcript	Het
Calcr	A	T	6: 3,707,592 (GRCm39)	I236N	probably benign	Het
Cass4	G	A	2: 172,258,107 (GRCm39)	G35E	probably damaging	Het
Chmp6	T	C	11: 119,807,517 (GRCm39)	I120T	probably benign	Het
Col13a1	A	G	10: 61,684,919 (GRCm39)		probably benign	Het
Cstdc4	T	A	16: 36,004,631 (GRCm39)	M1K	probably null	Het
Ddhd2	T	A	8: 26,238,629 (GRCm39)	L328F	probably damaging	Het
Defa40	T	A	8: 21,740,359 (GRCm39)		probably null	Het
Dnmt3l	A	G	10: 77,887,860 (GRCm39)	D123G	possibly damaging	Het
Eea1	T	A	10: 95,838,810 (GRCm39)	V287E	possibly damaging	Het
Efcc1	A	G	6: 87,708,164 (GRCm39)	N97S	probably benign	Het
Exd1	A	G	2: 119,369,262 (GRCm39)	S118P	probably benign	Het
Ext2	G	T	2: 93,642,317 (GRCm39)	T184K	probably benign	Het
Fam186a	G	A	15: 99,864,705 (GRCm39)	Q42*	probably null	Het
Gbp2	A	T	3: 142,337,843 (GRCm39)	I320L	probably benign	Het
Gramd2a	G	A	9: 59,615,299 (GRCm39)	G13R	probably benign	Het
H2-Q5	T	C	17: 35,613,115 (GRCm39)	M5T	unknown	Het
Jak3	C	T	8: 72,131,344 (GRCm39)	L70F	probably damaging	Het
Lhpp	G	A	7: 132,307,364 (GRCm39)	V254M	probably damaging	Het
Lig1	T	A	7: 13,030,184 (GRCm39)	V387E	possibly damaging	Het
Lipo3	T	C	19: 33,755,093 (GRCm39)		probably benign	Het
Lrrc8b	C	T	5: 105,629,208 (GRCm39)	S518L	probably benign	Het
Narf	T	C	11: 121,135,480 (GRCm39)	Y111H	probably damaging	Het
Ncf4	A	G	15: 78,135,177 (GRCm39)	K78R	probably benign	Het
Nrap	A	T	19: 56,330,601 (GRCm39)	C1118*	probably null	Het
Nubp2	A	G	17: 25,104,772 (GRCm39)	V23A	probably damaging	Het
Or6c219	A	T	10: 129,781,780 (GRCm39)	D50E	possibly damaging	Het
Or8g55	T	C	9: 39,785,392 (GRCm39)	S274P	possibly damaging	Het
Pdzd7	G	A	19: 45,025,428 (GRCm39)	P356S	probably benign	Het
Rttn	T	C	18: 89,056,070 (GRCm39)	V984A	probably damaging	Het
Ryr3	A	G	2: 112,516,925 (GRCm39)	S3334P	probably damaging	Het
Senp7	G	A	16: 55,959,468 (GRCm39)		probably null	Het
Slc25a3	A	C	10: 90,957,903 (GRCm39)	Y50D	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	T	15: 96,592,970 (GRCm39)	S163T	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stam2	A	T	2: 52,610,922 (GRCm39)	C4*	probably null	Het
Taf1a	A	G	1: 183,177,272 (GRCm39)	D50G	possibly damaging	Het
Taf6l	A	T	19: 8,759,995 (GRCm39)	Y106N	possibly damaging	Het
Taf7l2	T	C	10: 115,948,674 (GRCm39)	E284G	probably damaging	Het
Tbx20	G	A	9: 24,636,816 (GRCm39)	Q424*	probably null	Het
Tex10	A	G	4: 48,433,295 (GRCm39)	V829A	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,474 (GRCm39)		probably benign	Het
Tnfsf10	G	T	3: 27,389,742 (GRCm39)	V268F	probably damaging	Het
Trrap	A	G	5: 144,767,755 (GRCm39)	T2571A	probably benign	Het

Other mutations in Or4l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Or4l1	APN	14	50,166,555 (GRCm39)	missense	probably damaging	1.00
IGL02481:Or4l1	APN	14	50,166,164 (GRCm39)	missense	probably damaging	1.00
IGL03269:Or4l1	APN	14	50,166,165 (GRCm39)	missense	probably damaging	1.00
IGL03330:Or4l1	APN	14	50,166,678 (GRCm39)	missense	probably damaging	1.00
R1782:Or4l1	UTSW	14	50,166,096 (GRCm39)	missense	probably benign
R2061:Or4l1	UTSW	14	50,166,478 (GRCm39)	missense	possibly damaging	0.78
R3014:Or4l1	UTSW	14	50,166,489 (GRCm39)	missense	probably benign	0.00
R4134:Or4l1	UTSW	14	50,166,272 (GRCm39)	missense	probably damaging	1.00
R4135:Or4l1	UTSW	14	50,166,272 (GRCm39)	missense	probably damaging	1.00
R4212:Or4l1	UTSW	14	50,166,346 (GRCm39)	nonsense	probably null
R4774:Or4l1	UTSW	14	50,166,726 (GRCm39)	missense	probably damaging	1.00
R4951:Or4l1	UTSW	14	50,166,515 (GRCm39)	nonsense	probably null
R4965:Or4l1	UTSW	14	50,166,354 (GRCm39)	missense	probably benign	0.01
R5254:Or4l1	UTSW	14	50,166,236 (GRCm39)	missense	probably damaging	0.99
R5306:Or4l1	UTSW	14	50,167,007 (GRCm39)	start gained	probably benign
R5502:Or4l1	UTSW	14	50,166,993 (GRCm39)	missense	probably benign
R6062:Or4l1	UTSW	14	50,166,119 (GRCm39)	missense	probably damaging	1.00
R6072:Or4l1	UTSW	14	50,166,606 (GRCm39)	missense	probably damaging	1.00
R7816:Or4l1	UTSW	14	50,166,622 (GRCm39)	missense	probably damaging	1.00
R9359:Or4l1	UTSW	14	50,166,906 (GRCm39)	missense	probably benign
R9403:Or4l1	UTSW	14	50,166,906 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTGCCAGGTGATTTGTGC -3'
(R):5'- ATGGCCCAGATGTTCTTCATG -3'

Sequencing Primer
(F):5'- TGCTTTACAATGAGCAGAATGACAG -3'
(R):5'- TGGGGGTGCTGAAATGACCC -3'

Posted On

2016-12-15