Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Or52l1'

212212

Institutional Source

Beutler Lab

Gene Symbol

Or52l1

Ensembl Gene

ENSMUSG00000047794

Gene Name

olfactory receptor family 52 subfamily L member 1

Synonyms

MOR37-1, GA_x6K02T2PBJ9-7810071-7809121, Olfr685

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104829568-104830518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104830079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 162 (I162T)

Ref Sequence

ENSEMBL: ENSMUSP00000148994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051355] [ENSMUST00000209409] [ENSMUST00000214712] [ENSMUST00000217432]

AlphaFold

A0A1L1SVG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051355
AA Change: I147T

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: I147T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	313	3e-107	PFAM
Pfam:7TM_GPCR_Srsx	38	217	2.9e-8	PFAM
Pfam:7tm_1	44	295	7e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209409
AA Change: I162T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214712
AA Change: I162T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217432
AA Change: I162T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Acta1	A	T	8: 124,619,900 (GRCm39)	S147T	probably benign	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,850,456 (GRCm39)	T518A	unknown	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Flrt2	C	A	12: 95,745,904 (GRCm39)	P81T	probably damaging	Het
Flrt2	C	T	12: 95,745,905 (GRCm39)	P81L	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	probably damaging	Het

Other mutations in Or52l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Or52l1	APN	7	104,829,695 (GRCm39)	missense	probably benign	0.00
IGL01612:Or52l1	APN	7	104,829,929 (GRCm39)	missense	probably damaging	1.00
IGL02598:Or52l1	APN	7	104,830,163 (GRCm39)	missense	probably damaging	1.00
R0841:Or52l1	UTSW	7	104,830,061 (GRCm39)	missense	probably damaging	0.96
R1164:Or52l1	UTSW	7	104,830,040 (GRCm39)	missense	probably benign	0.02
R1711:Or52l1	UTSW	7	104,829,967 (GRCm39)	missense	probably damaging	0.99
R1891:Or52l1	UTSW	7	104,829,754 (GRCm39)	nonsense	probably null
R1990:Or52l1	UTSW	7	104,830,221 (GRCm39)	missense	probably damaging	1.00
R3766:Or52l1	UTSW	7	104,830,088 (GRCm39)	missense	probably damaging	0.98
R4750:Or52l1	UTSW	7	104,830,133 (GRCm39)	missense	probably damaging	1.00
R5056:Or52l1	UTSW	7	104,829,779 (GRCm39)	missense	probably damaging	1.00
R5061:Or52l1	UTSW	7	104,829,864 (GRCm39)	missense	possibly damaging	0.56
R6227:Or52l1	UTSW	7	104,829,917 (GRCm39)	missense	probably damaging	1.00
R7619:Or52l1	UTSW	7	104,829,956 (GRCm39)	missense	probably damaging	1.00
R8075:Or52l1	UTSW	7	104,830,343 (GRCm39)	missense	probably damaging	0.98
R8250:Or52l1	UTSW	7	104,830,518 (GRCm39)	missense
R8951:Or52l1	UTSW	7	104,829,638 (GRCm39)	missense	probably damaging	0.99
R8961:Or52l1	UTSW	7	104,830,376 (GRCm39)	missense	possibly damaging	0.72
R9214:Or52l1	UTSW	7	104,829,587 (GRCm39)	missense	probably benign	0.00
R9469:Or52l1	UTSW	7	104,829,967 (GRCm39)	missense	probably damaging	0.99
R9782:Or52l1	UTSW	7	104,830,067 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGACCATAAGCTCGATTCACTG -3'
(R):5'- TGCTATTGACCTGGTCCTGG -3'

Sequencing Primer
(F):5'- CACTGTGGTTTCAGAACAGGC -3'
(R):5'- AAAGCCCTCACTGTGCTC -3'

Posted On

2014-06-30