Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:Or4l1'

319269

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

041641-MU

Accession Numbers

Essential gene?

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

Stock #

R4212 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

50166020-50167025 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 50166346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 218 (Y218*)

Ref Sequence

ENSEMBL: ENSMUSP00000145863 (fasta)

Gene Model

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

AlphaFold

E9PZU2

Predicted Effect

probably null
Transcript: ENSMUST00000164157
AA Change: Y218*

SMART Domains

Protein: ENSMUSP00000129254
Gene: ENSMUSG00000093825
AA Change: Y218*

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 null
Transcript: ENSMUST00000206058
AA Change: Y218*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,791,585 (GRCm39)	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,817,470 (GRCm39)	V536A	probably damaging	Het
Arsi	A	T	18: 61,049,773 (GRCm39)	I219F	probably damaging	Het
Atg7	G	A	6: 114,680,386 (GRCm39)	G447E	probably benign	Het
Bdp1	T	A	13: 100,196,093 (GRCm39)	H1223L	probably benign	Het
Cep152	A	G	2: 125,461,921 (GRCm39)	M87T	probably benign	Het
Chrm3	T	C	13: 9,927,791 (GRCm39)	D415G	probably benign	Het
Chrnb2	A	T	3: 89,668,851 (GRCm39)	C155S	probably damaging	Het
Col6a4	T	A	9: 105,952,569 (GRCm39)	Q443L	probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
D5Ertd579e	A	T	5: 36,771,823 (GRCm39)	D857E	probably damaging	Het
Efcab6	T	C	15: 83,777,064 (GRCm39)	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,302,273 (GRCm39)	A440T	probably benign	Het
Gc	T	C	5: 89,583,434 (GRCm39)	K370E	probably benign	Het
Gm11559	A	G	11: 99,755,726 (GRCm39)	Q125R	unknown	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gucy2e	A	G	11: 69,118,949 (GRCm39)	F681S	probably damaging	Het
Hip1r	A	G	5: 124,137,953 (GRCm39)	I760V	probably benign	Het
Islr2	C	T	9: 58,106,603 (GRCm39)	G219D	probably damaging	Het
Itgae	A	G	11: 73,010,178 (GRCm39)	H556R	probably benign	Het
Jag1	T	C	2: 136,926,990 (GRCm39)	D923G	probably benign	Het
Kmt2c	A	G	5: 25,552,357 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,884 (GRCm39)		probably benign	Het
Krtap17-1	A	G	11: 99,884,740 (GRCm39)	L9P	unknown	Het
Lats2	C	T	14: 57,933,712 (GRCm39)	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,890,606 (GRCm39)	T632S	probably benign	Het
Myo9a	C	T	9: 59,813,349 (GRCm39)	R2183*	probably null	Het
Myorg	T	C	4: 41,498,307 (GRCm39)	E441G	probably benign	Het
Naip1	T	C	13: 100,563,383 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,360,624 (GRCm39)	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,754,110 (GRCm39)	Y91C	possibly damaging	Het
Or5b102	T	G	19: 13,041,123 (GRCm39)	M116R	probably damaging	Het
Or5k1	T	A	16: 58,617,732 (GRCm39)	H159L	possibly damaging	Het
Pard3	T	A	8: 128,336,939 (GRCm39)	I1143K	probably benign	Het
Pcdha7	A	G	18: 37,108,027 (GRCm39)	T351A	probably benign	Het
Phf2	C	A	13: 48,974,089 (GRCm39)	G318V	unknown	Het
Plch1	T	A	3: 63,778,180 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,557,046 (GRCm39)	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,516,325 (GRCm39)	I244T	probably damaging	Het
Psmd12	T	C	11: 107,376,585 (GRCm39)	C74R	probably damaging	Het
Qng1	C	T	13: 58,529,805 (GRCm39)	G269E	probably damaging	Het
Ralgapa1	A	G	12: 55,786,115 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,333,194 (GRCm39)	G781D	probably damaging	Het
Scn8a	T	C	15: 100,854,954 (GRCm39)	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,480,597 (GRCm39)	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,309,288 (GRCm39)	L139*	probably null	Het
Slc2a12	A	T	10: 22,577,993 (GRCm39)	K596N	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Spata31e4	C	T	13: 50,854,388 (GRCm39)	T82I	possibly damaging	Het
Tlr4	T	A	4: 66,758,563 (GRCm39)	I452N	probably damaging	Het
Tshz3	A	G	7: 36,469,544 (GRCm39)	D511G	probably damaging	Het
Usp44	A	G	10: 93,682,632 (GRCm39)	K314E	possibly damaging	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
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
R5799:Or4l1	UTSW	14	50,166,497 (GRCm39)	missense	probably damaging	1.00
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'- TGCAGCTGACTTGTTGGATC -3'
(R):5'- ATGGCATTGACAGTGAATTTGCC -3'

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

Posted On

2015-06-10