Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Or52r1c'

730602

Institutional Source

Beutler Lab

Gene Symbol

Or52r1c

Ensembl Gene

ENSMUSG00000073959

Gene Name

olfactory receptor family 52 subfamily R member 1C

Synonyms

MOR30-2, Olfr584, GA_x6K02T2PBJ9-5796876-5797820

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102734727-102735686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102735196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000151043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098210] [ENSMUST00000214215]

AlphaFold

Q8VGW0

Predicted Effect

probably benign
Transcript: ENSMUST00000098210
AA Change: V157A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095811
Gene: ENSMUSG00000073959
AA Change: V157A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	317	1.4e-110	PFAM
Pfam:7TM_GPCR_Srsx	42	234	2.1e-9	PFAM
Pfam:7tm_1	48	299	4.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214215
AA Change: V152A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,465,247 (GRCm39)		probably benign	Het
Acvr1c	A	T	2: 58,206,007 (GRCm39)	D34E	probably benign	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 123,364,936 (GRCm39)	D282V	probably benign	Het
Ccl9	T	A	11: 83,466,238 (GRCm39)	N114I	probably benign	Het
Cdan1	G	T	2: 120,554,650 (GRCm39)	A875E	probably damaging	Het
Celf2	A	T	2: 6,726,349 (GRCm39)	F61L	probably damaging	Het
Chd9	T	C	8: 91,712,801 (GRCm39)	Y875H	unknown	Het
Ckap5	A	T	2: 91,379,177 (GRCm39)	K39M	probably benign	Het
Clcn3	T	C	8: 61,390,434 (GRCm39)	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,560,083 (GRCm39)	V1416F		Het
Cyp4v3	A	T	8: 45,773,703 (GRCm39)	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,379,466 (GRCm39)	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,450,544 (GRCm39)	Q719L	probably benign	Het
Evi2	C	T	11: 79,406,583 (GRCm39)	V331M	probably damaging	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fkrp	G	T	7: 16,545,112 (GRCm39)	T250N	probably benign	Het
Ftdc1	A	G	16: 58,434,974 (GRCm39)	L117S	probably benign	Het
Galc	G	A	12: 98,225,573 (GRCm39)	P6S		Het
Gm5134	A	T	10: 75,828,331 (GRCm39)	M304L	possibly damaging	Het
Haao	T	C	17: 84,142,215 (GRCm39)	E208G	probably damaging	Het
Hook1	T	A	4: 95,904,678 (GRCm39)	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,090,280 (GRCm39)		probably null	Het
Ighv10-3	C	T	12: 114,487,254 (GRCm39)	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,350,705 (GRCm39)	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,408,378 (GRCm39)	*249W	probably null	Het
Ktn1	T	G	14: 47,910,508 (GRCm39)	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,572,123 (GRCm39)	T710A	unknown	Het
Ldha	A	T	7: 46,504,456 (GRCm39)	Q326L	possibly damaging	Het
Map4	G	A	9: 109,901,774 (GRCm39)		probably null	Het
Mdfic	T	A	6: 15,770,514 (GRCm39)	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,271,692 (GRCm39)	Q159L	possibly damaging	Het
Omd	T	C	13: 49,743,336 (GRCm39)	S129P	probably damaging	Het
Or14j3	C	T	17: 37,900,914 (GRCm39)	G110D	probably benign	Het
Parp16	A	G	9: 65,141,009 (GRCm39)	Y193C	probably damaging	Het
Pdzk1	A	G	3: 96,763,174 (GRCm39)	T201A		Het
Phldb2	T	A	16: 45,601,756 (GRCm39)	H728L	possibly damaging	Het
Prrt1b	A	T	2: 29,637,548 (GRCm39)	L42Q	probably damaging	Het
Ptchd4	C	T	17: 42,813,641 (GRCm39)	T514I	probably damaging	Het
Pusl1	T	C	4: 155,976,094 (GRCm39)	D24G	probably benign	Het
Rai1	G	A	11: 60,080,165 (GRCm39)	A1410T	probably benign	Het
Rint1	T	A	5: 24,005,721 (GRCm39)	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,619,243 (GRCm39)	S156G	unknown	Het
Rtf1	A	G	2: 119,535,986 (GRCm39)	D180G	possibly damaging	Het
Sectm1a	G	T	11: 120,960,490 (GRCm39)	D108E	probably damaging	Het
Senp7	T	A	16: 55,944,277 (GRCm39)	D200E	probably damaging	Het
Sfswap	A	G	5: 129,616,848 (GRCm39)	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,073,472 (GRCm39)	D773E	probably damaging	Het
Shprh	T	C	10: 11,089,248 (GRCm39)	L1662P	probably damaging	Het
Slx4	G	T	16: 3,804,328 (GRCm39)	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,268,533 (GRCm39)	S43T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Strn4	G	A	7: 16,572,496 (GRCm39)	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,677,765 (GRCm39)	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,663,836 (GRCm39)	T341M	unknown	Het
Tjp2	A	C	19: 24,078,207 (GRCm39)	S895R	probably damaging	Het
Tmem220	G	T	11: 66,916,086 (GRCm39)	A28S	probably damaging	Het
Trdv1	G	A	14: 54,119,663 (GRCm39)	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,190 (GRCm39)	Y423C	probably damaging	Het
Ttn	T	C	2: 76,625,027 (GRCm39)	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,802 (GRCm39)	Y355F	probably benign	Het
Vnn3	C	T	10: 23,745,454 (GRCm39)	R468*	probably null	Het
Washc5	T	A	15: 59,217,192 (GRCm39)	T792S	probably benign	Het
Wdfy4	T	C	14: 32,847,893 (GRCm39)	M820V		Het
Zfp961	T	A	8: 72,721,933 (GRCm39)	C149S	possibly damaging	Het
Zmat4	G	A	8: 24,238,507 (GRCm39)	V30M	probably damaging	Het

Other mutations in Or52r1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Or52r1c	APN	7	102,735,582 (GRCm39)	missense	probably benign	0.00
IGL02113:Or52r1c	APN	7	102,735,057 (GRCm39)	missense	possibly damaging	0.95
IGL02398:Or52r1c	APN	7	102,735,313 (GRCm39)	missense	probably damaging	1.00
IGL02718:Or52r1c	APN	7	102,734,790 (GRCm39)	missense	probably benign	0.01
IGL02941:Or52r1c	APN	7	102,735,528 (GRCm39)	missense	probably benign	0.05
IGL02942:Or52r1c	APN	7	102,735,405 (GRCm39)	missense	probably benign	0.07
R0496:Or52r1c	UTSW	7	102,734,797 (GRCm39)	missense	probably damaging	1.00
R0511:Or52r1c	UTSW	7	102,735,058 (GRCm39)	missense	probably damaging	1.00
R0646:Or52r1c	UTSW	7	102,735,358 (GRCm39)	missense	probably damaging	0.99
R1652:Or52r1c	UTSW	7	102,735,013 (GRCm39)	missense	probably benign	0.04
R2312:Or52r1c	UTSW	7	102,735,633 (GRCm39)	missense	probably damaging	0.99
R2849:Or52r1c	UTSW	7	102,735,319 (GRCm39)	missense	probably damaging	1.00
R2937:Or52r1c	UTSW	7	102,735,548 (GRCm39)	missense	probably benign	0.01
R3176:Or52r1c	UTSW	7	102,734,957 (GRCm39)	missense	probably damaging	1.00
R3276:Or52r1c	UTSW	7	102,734,957 (GRCm39)	missense	probably damaging	1.00
R3708:Or52r1c	UTSW	7	102,735,501 (GRCm39)	missense	probably damaging	1.00
R4737:Or52r1c	UTSW	7	102,735,121 (GRCm39)	missense	probably damaging	1.00
R5045:Or52r1c	UTSW	7	102,735,664 (GRCm39)	missense	probably benign	0.00
R5172:Or52r1c	UTSW	7	102,734,884 (GRCm39)	missense	probably damaging	1.00
R5849:Or52r1c	UTSW	7	102,734,728 (GRCm39)	start codon destroyed	probably null	0.02
R6294:Or52r1c	UTSW	7	102,734,874 (GRCm39)	missense	probably benign	0.01
R6846:Or52r1c	UTSW	7	102,735,265 (GRCm39)	missense	possibly damaging	0.88
R6869:Or52r1c	UTSW	7	102,735,075 (GRCm39)	missense	possibly damaging	0.47
R6936:Or52r1c	UTSW	7	102,735,021 (GRCm39)	missense	probably damaging	0.97
R7133:Or52r1c	UTSW	7	102,735,205 (GRCm39)	missense	probably damaging	0.99
R7724:Or52r1c	UTSW	7	102,735,470 (GRCm39)	nonsense	probably null
R7772:Or52r1c	UTSW	7	102,735,388 (GRCm39)	missense	probably benign	0.23
R9341:Or52r1c	UTSW	7	102,735,324 (GRCm39)	nonsense	probably null
R9343:Or52r1c	UTSW	7	102,735,324 (GRCm39)	nonsense	probably null
R9752:Or52r1c	UTSW	7	102,735,669 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AATATCATGCCTGCCTCATCCAG -3'
(R):5'- TCAGCACAGCTCTCAGAATC -3'

Sequencing Primer
(F):5'- ATCCAGGTGTTCTTCATACATGC -3'
(R):5'- TTATGTCAAAGCCAACAACAGAG -3'

Posted On

2022-10-06