Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Or4l1'

383957

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4965 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

49928563-49931787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49928897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 216 (V216I)

Ref Sequence

ENSEMBL: ENSMUSP00000145863 (fasta)

Gene Model

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

AlphaFold

E9PZU2

Predicted Effect

probably benign
Transcript: ENSMUST00000164157
AA Change: V216I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129254
Gene: ENSMUSG00000093825
AA Change: V216I

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 benign
Transcript: ENSMUST00000206058
AA Change: V216I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,672 (GRCm38)	T1541A	probably benign	Het
4931423N10Rik	C	A	2: 23,245,115 (GRCm38)	T312K	probably benign	Het
9530002B09Rik	T	C	4: 122,700,492 (GRCm38)	M59T	probably benign	Het
Adam18	C	T	8: 24,641,811 (GRCm38)	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,278,502 (GRCm38)	E700G	possibly damaging	Het
Adprh	G	T	16: 38,445,780 (GRCm38)	Y333*	probably null	Het
Agfg2	C	A	5: 137,667,177 (GRCm38)		probably null	Het
Akip1	A	T	7: 109,711,754 (GRCm38)	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,580,305 (GRCm38)	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,365,789 (GRCm38)	A455E	probably damaging	Het
Amph	G	A	13: 19,137,699 (GRCm38)	S520N	probably benign	Het
Ankrd52	A	G	10: 128,390,507 (GRCm38)	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,467,676 (GRCm38)	Q133P	probably damaging	Het
Babam1	C	T	8: 71,404,388 (GRCm38)	A331V	possibly damaging	Het
Btc	T	C	5: 91,362,301 (GRCm38)		probably null	Het
Cacna2d3	A	G	14: 28,982,332 (GRCm38)	F831L	probably benign	Het
Cadm3	G	A	1: 173,337,097 (GRCm38)	P372L	probably damaging	Het
Capn5	A	T	7: 98,126,417 (GRCm38)	M439K	probably damaging	Het
Carf	T	C	1: 60,150,637 (GRCm38)	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250 (GRCm38)	R81C	probably benign	Het
Ces2e	G	T	8: 104,933,698 (GRCm38)	R555M	probably benign	Het
Cfap54	T	A	10: 93,066,799 (GRCm38)	I164F	probably benign	Het
Cltc	C	T	11: 86,707,501 (GRCm38)	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,095,787 (GRCm38)	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,774,474 (GRCm38)	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,177,425 (GRCm38)	I59F	possibly damaging	Het
Cop1	T	C	1: 159,239,597 (GRCm38)	M80T	probably damaging	Het
Cplx2	A	G	13: 54,379,647 (GRCm38)	S115G	possibly damaging	Het
Crtac1	A	G	19: 42,318,740 (GRCm38)	Y195H	probably damaging	Het
Csn1s2a	A	C	5: 87,781,838 (GRCm38)	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,813,961 (GRCm38)	D41E	possibly damaging	Het
Cul9	C	T	17: 46,538,525 (GRCm38)	D565N	probably damaging	Het
Cux1	A	T	5: 136,311,556 (GRCm38)	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,011,762 (GRCm38)	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,809,285 (GRCm38)	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,624,421 (GRCm38)	V135M	probably damaging	Het
Dtl	T	C	1: 191,546,565 (GRCm38)	E395G	possibly damaging	Het
Dyrk1a	G	T	16: 94,691,995 (GRCm38)	G658*	probably null	Het
Erlin2	T	C	8: 27,029,595 (GRCm38)	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,531,523 (GRCm38)		probably null	Het
Fras1	T	C	5: 96,726,580 (GRCm38)	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,153,600 (GRCm38)	T240A	probably damaging	Het
H2-D1	A	G	17: 35,263,905 (GRCm38)	Y137C	probably damaging	Het
Helz2	A	G	2: 181,240,916 (GRCm38)	V28A	possibly damaging	Het
Hydin	A	G	8: 110,398,095 (GRCm38)	I579V	probably benign	Het
Il6	A	T	5: 30,013,493 (GRCm38)	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,307,840 (GRCm38)	D368G	probably damaging	Het
Junb	T	A	8: 84,978,159 (GRCm38)	I91F	probably damaging	Het
Kat2a	A	T	11: 100,712,204 (GRCm38)		probably benign	Het
Kat2a	C	A	11: 100,712,203 (GRCm38)		probably benign	Het
Kcnh5	T	A	12: 74,965,151 (GRCm38)	T665S	probably benign	Het
Kdm1b	A	T	13: 47,074,367 (GRCm38)	D608V	probably damaging	Het
Krcc1	A	G	6: 71,284,637 (GRCm38)	K218E	probably damaging	Het
Krt8	C	T	15: 101,996,951 (GRCm38)	V488M	probably benign	Het
Lzts1	C	T	8: 69,138,762 (GRCm38)	A245T	probably benign	Het
Mcm6	T	A	1: 128,359,486 (GRCm38)	Q27L	probably damaging	Het
Mfsd4b3-ps	G	T	10: 39,947,690 (GRCm38)	Y191*	probably null	Het
Mgme1	T	C	2: 144,279,620 (GRCm38)	L332P	probably benign	Het
Mgme1	C	T	2: 144,276,404 (GRCm38)	Q199*	probably null	Het
Morc3	G	T	16: 93,860,587 (GRCm38)	E25*	probably null	Het
Mroh7	G	A	4: 106,690,987 (GRCm38)	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,406,587 (GRCm38)	R174H	probably benign	Het
Mybpc3	G	A	2: 91,119,247 (GRCm38)	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,504,938 (GRCm38)	N733K	probably damaging	Het
N4bp1	T	C	8: 86,851,686 (GRCm38)	I684V	possibly damaging	Het
Nav2	A	T	7: 49,552,877 (GRCm38)	R1470*	probably null	Het
Ndufa9	A	T	6: 126,822,063 (GRCm38)	S364T	probably benign	Het
Nipal4	C	A	11: 46,162,010 (GRCm38)	A43S	possibly damaging	Het
Nlrp1a	T	A	11: 71,092,315 (GRCm38)	Y1275F	possibly damaging	Het
Nova1	A	T	12: 46,720,835 (GRCm38)	L8*	probably null	Het
Odam	G	T	5: 87,890,108 (GRCm38)	G181*	probably null	Het
Optn	T	A	2: 5,021,379 (GRCm38)	Q576L	probably benign	Het
Or2c1	T	C	16: 3,839,570 (GRCm38)	L199P	probably damaging	Het
Or4k47	T	C	2: 111,621,534 (GRCm38)	D180G	probably damaging	Het
Or51a39	A	T	7: 102,713,495 (GRCm38)	I306N	probably damaging	Het
Or5as1	T	A	2: 87,150,659 (GRCm38)	M1L	possibly damaging	Het
Or5h18	A	T	16: 59,027,333 (GRCm38)	D191E	probably damaging	Het
Or8s2	T	C	15: 98,379,149 (GRCm38)		probably benign	Het
Patl2	G	T	2: 122,128,848 (GRCm38)	S45*	probably null	Het
Pde2a	G	A	7: 101,502,933 (GRCm38)	G349E	probably benign	Het
Pdlim2	T	A	14: 70,168,015 (GRCm38)		probably benign	Het
Per1	T	C	11: 69,104,401 (GRCm38)	V653A	probably benign	Het
Phlda2	A	G	7: 143,502,268 (GRCm38)	S75P	probably damaging	Het
Poldip3	A	T	15: 83,137,505 (GRCm38)	M167K	possibly damaging	Het
Prpf38a	T	C	4: 108,579,081 (GRCm38)	I12V	probably benign	Het
Prrc1	G	A	18: 57,374,550 (GRCm38)	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,424,622 (GRCm38)	M1K	probably null	Het
Rdh5	A	G	10: 128,913,784 (GRCm38)	Y296H	probably damaging	Het
Resf1	G	T	6: 149,328,398 (GRCm38)	G981*	probably null	Het
Rnf2	T	A	1: 151,473,217 (GRCm38)	K51*	probably null	Het
Rpusd3	C	A	6: 113,416,848 (GRCm38)	R215L	probably benign	Het
Rsph4a	A	T	10: 33,909,240 (GRCm38)	E382D	probably damaging	Het
S1pr2	G	A	9: 20,968,449 (GRCm38)	Q28*	probably null	Het
Sesn1	A	T	10: 41,895,009 (GRCm38)	I179F	probably damaging	Het
Setd3	T	A	12: 108,113,371 (GRCm38)	E291V	probably benign	Het
Shc1	G	T	3: 89,426,996 (GRCm38)	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,891,526 (GRCm38)	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,700,558 (GRCm38)	K26E	probably benign	Het
Slc9a3	A	G	13: 74,164,293 (GRCm38)	N670D	possibly damaging	Het
Spata19	A	T	9: 27,400,465 (GRCm38)	I127L	probably benign	Het
Speg	G	T	1: 75,427,703 (GRCm38)	V2751L	probably damaging	Het
Sptbn2	A	G	19: 4,729,309 (GRCm38)	D298G	probably benign	Het
Srm	T	C	4: 148,594,183 (GRCm38)	V289A	possibly damaging	Het
Stip1	C	T	19: 7,035,570 (GRCm38)	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,628 (GRCm38)	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,865,725 (GRCm38)	K284*	probably null	Het
Tfcp2	T	C	15: 100,525,650 (GRCm38)	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,373,073 (GRCm38)	V206A	probably damaging	Het
Tgtp2	A	G	11: 49,059,410 (GRCm38)	W112R	probably damaging	Het
Tmem71	T	G	15: 66,538,861 (GRCm38)	M221L	probably benign	Het
Tpcn1	T	C	5: 120,547,487 (GRCm38)	N436S	possibly damaging	Het
Usp4	C	T	9: 108,362,620 (GRCm38)	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,670,551 (GRCm38)	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,533,919 (GRCm38)	D669V	probably damaging	Het
Zfp108	A	T	7: 24,260,148 (GRCm38)	I55L	probably benign	Het
Zfp512b	A	T	2: 181,586,338 (GRCm38)	S8R	probably damaging	Het
Zfp827	T	C	8: 79,061,281 (GRCm38)	S359P	probably benign	Het

Other mutations in Or4l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Or4l1	APN	14	49,929,098 (GRCm38)	missense	probably damaging	1.00
IGL02481:Or4l1	APN	14	49,928,707 (GRCm38)	missense	probably damaging	1.00
IGL03269:Or4l1	APN	14	49,928,708 (GRCm38)	missense	probably damaging	1.00
IGL03330:Or4l1	APN	14	49,929,221 (GRCm38)	missense	probably damaging	1.00
R1782:Or4l1	UTSW	14	49,928,639 (GRCm38)	missense	probably benign
R2061:Or4l1	UTSW	14	49,929,021 (GRCm38)	missense	possibly damaging	0.78
R3014:Or4l1	UTSW	14	49,929,032 (GRCm38)	missense	probably benign	0.00
R4134:Or4l1	UTSW	14	49,928,815 (GRCm38)	missense	probably damaging	1.00
R4135:Or4l1	UTSW	14	49,928,815 (GRCm38)	missense	probably damaging	1.00
R4212:Or4l1	UTSW	14	49,928,889 (GRCm38)	nonsense	probably null
R4774:Or4l1	UTSW	14	49,929,269 (GRCm38)	missense	probably damaging	1.00
R4951:Or4l1	UTSW	14	49,929,058 (GRCm38)	nonsense	probably null
R5254:Or4l1	UTSW	14	49,928,779 (GRCm38)	missense	probably damaging	0.99
R5306:Or4l1	UTSW	14	49,929,550 (GRCm38)	start gained	probably benign
R5502:Or4l1	UTSW	14	49,929,536 (GRCm38)	missense	probably benign
R5799:Or4l1	UTSW	14	49,929,040 (GRCm38)	missense	probably damaging	1.00
R6062:Or4l1	UTSW	14	49,928,662 (GRCm38)	missense	probably damaging	1.00
R6072:Or4l1	UTSW	14	49,929,149 (GRCm38)	missense	probably damaging	1.00
R7816:Or4l1	UTSW	14	49,929,165 (GRCm38)	missense	probably damaging	1.00
R9359:Or4l1	UTSW	14	49,929,449 (GRCm38)	missense	probably benign
R9403:Or4l1	UTSW	14	49,929,449 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGCTGACTTGTTGGATCC -3'
(R):5'- TGGCATTGACAGTGAATTTGC -3'

Sequencing Primer
(F):5'- GTTGGATCCATAATTTTCTCATGGC -3'
(R):5'- GCATTGACAGTGAATTTGCCTTTC -3'

Posted On

2016-04-27