Mutagenetix > Incidental Mutation

Incidental Mutation 'R9782:Or52l1'

734118

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

Accession Numbers

Essential gene?

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

Stock #

R9782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104829568-104830518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104830067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 166 (V166A)

Ref Sequence

ENSEMBL: ENSMUSP00000147369 (fasta)

Gene Model

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

AlphaFold

A0A1L1SVG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000051355
AA Change: V151A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: V151A

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

probably damaging
Transcript: ENSMUST00000209409
AA Change: V166A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214712
AA Change: V166A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217432
AA Change: V166A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,053,796 (GRCm39)	M1K	probably null	Het
Atoh8	A	T	6: 72,200,848 (GRCm39)	L281M	possibly damaging	Het
Bckdha	A	G	7: 25,340,880 (GRCm39)		probably null	Het
Chil6	A	T	3: 106,296,121 (GRCm39)	Y371*	probably null	Het
Cilk1	A	T	9: 78,048,520 (GRCm39)	Q108L	probably damaging	Het
Fbxw18	G	T	9: 109,522,376 (GRCm39)	H164Q	probably benign	Het
Gucd1	T	G	10: 75,345,650 (GRCm39)	D135A	probably benign	Het
Hacd1	A	G	2: 14,040,751 (GRCm39)	I168T	possibly damaging	Het
Hfm1	T	C	5: 107,021,896 (GRCm39)	E1013G	probably benign	Het
Hsf4	G	A	8: 105,999,217 (GRCm39)		probably null	Het
Ift140	G	T	17: 25,264,151 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Imp4	T	A	1: 34,482,901 (GRCm39)	L164Q	probably damaging	Het
Jazf1	C	T	6: 52,747,311 (GRCm39)	V204I	probably benign	Het
Kmt2d	T	A	15: 98,764,597 (GRCm39)	D2V	probably damaging	Het
Knl1	T	C	2: 118,899,910 (GRCm39)	V537A	probably benign	Het
Mep1b	A	T	18: 21,208,720 (GRCm39)	D32V	possibly damaging	Het
Mki67	A	G	7: 135,306,066 (GRCm39)		probably null	Het
Morn3	C	T	5: 123,175,822 (GRCm39)	V189M	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Mtmr2	T	C	9: 13,713,293 (GRCm39)	M490T	probably benign	Het
Muc16	T	C	9: 18,548,066 (GRCm39)	T6076A	possibly damaging	Het
Myo1c	A	G	11: 75,549,273 (GRCm39)	E113G	probably damaging	Het
Nat8f4	A	T	6: 85,878,052 (GRCm39)	V157D	probably damaging	Het
Nectin4	T	C	1: 171,214,192 (GRCm39)	V449A	probably damaging	Het
Ogdhl	C	T	14: 32,061,909 (GRCm39)	T528M	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	G	A	2: 88,356,835 (GRCm39)	V303M	probably benign	Het
Pcdhb12	AT	A	18: 37,570,393 (GRCm39)		probably null	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pkn2	A	C	3: 142,516,237 (GRCm39)	V562G	possibly damaging	Het
Plxna1	C	A	6: 89,333,817 (GRCm39)	A271S	probably benign	Het
Ppp1r3a	C	T	6: 14,718,766 (GRCm39)	S716N	probably damaging	Het
Prss12	G	A	3: 123,271,762 (GRCm39)	G256S	probably benign	Het
Psg28	A	T	7: 18,164,331 (GRCm39)	M127K	probably benign	Het
Psmf1	T	C	2: 151,577,533 (GRCm39)	D48G	possibly damaging	Het
Rabggta	T	A	14: 55,955,944 (GRCm39)	M438L	possibly damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rbck1	T	C	2: 152,165,113 (GRCm39)	E297G	probably damaging	Het
Rras	A	T	7: 44,669,945 (GRCm39)	I126F	probably damaging	Het
Slc22a28	T	C	19: 8,041,813 (GRCm39)	R465G	probably null	Het
Slc28a2b	T	A	2: 122,352,338 (GRCm39)	I365N	probably damaging	Het
Snx19	A	G	9: 30,340,172 (GRCm39)	T437A	probably benign	Het
Son	A	T	16: 91,444,838 (GRCm39)	S15C	probably damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Sptbn4	G	T	7: 27,107,993 (GRCm39)	Q810K	probably benign	Het
Tmtc2	T	C	10: 105,026,062 (GRCm39)	Y802C	probably damaging	Het
Trrap	T	A	5: 144,758,716 (GRCm39)	M2181K	probably damaging	Het
Ttc23l	A	G	15: 10,530,767 (GRCm39)	S282P	probably damaging	Het
Zbtb7a	G	A	10: 80,979,910 (GRCm39)	D35N	probably damaging	Het
Zc3h3	C	A	15: 75,681,489 (GRCm39)	V531L	probably damaging	Het
Zfhx4	A	G	3: 5,466,514 (GRCm39)	D2249G	probably benign	Het
Zfp87	T	C	13: 74,520,932 (GRCm39)	K49E	probably benign	Het
Zfp942	T	C	17: 22,147,463 (GRCm39)	T389A	probably benign	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
R1901:Or52l1	UTSW	7	104,830,079 (GRCm39)	missense	possibly damaging	0.88
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

Predicted Primers

PCR Primer
(F):5'- TGCCACTGACAGACCATAAG -3'
(R):5'- TGCTGCTATTGACCTGGTCC -3'

Sequencing Primer
(F):5'- GACCATAAGCTCGATTCACTGTGG -3'
(R):5'- ATTGACCTGGTCCTGGCC -3'

Posted On

2022-11-14