Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Or52r1c'

536085

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

044966-MU

Accession Numbers

Essential gene?

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

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102734727-102735686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102735075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 112 (V112M)

Ref Sequence

ENSEMBL: ENSMUSP00000151043 (fasta)

Gene Model

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

AlphaFold

Q8VGW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098210
AA Change: V117M

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095811
Gene: ENSMUSG00000073959
AA Change: V117M

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

possibly damaging
Transcript: ENSMUST00000214215
AA Change: V112M

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,507,042 (GRCm39)		probably null	Het
Ankdd1b	A	T	13: 96,580,799 (GRCm39)	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,236,623 (GRCm39)	R999L	probably damaging	Het
Bnc2	T	A	4: 84,211,733 (GRCm39)	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,075,143 (GRCm39)	I357T	probably benign	Het
Catsperb	T	C	12: 101,446,996 (GRCm39)	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,797,898 (GRCm39)	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,572,478 (GRCm39)	D17G	probably damaging	Het
Chd6	T	C	2: 160,807,650 (GRCm39)	S1855G	probably benign	Het
Cpe	A	G	8: 65,072,461 (GRCm39)	V143A	probably benign	Het
Cyfip1	T	A	7: 55,557,113 (GRCm39)	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,610,067 (GRCm39)	M494L	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
Dnah2	T	A	11: 69,320,297 (GRCm39)	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,316,481 (GRCm39)	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,303,117 (GRCm39)	V342E	probably benign	Het
Fastkd1	G	A	2: 69,533,104 (GRCm39)	A421V	probably benign	Het
Fgf20	T	C	8: 40,734,189 (GRCm39)	Y64C	probably damaging	Het
Gen1	A	T	12: 11,291,442 (GRCm39)	N847K	probably benign	Het
Gm4922	A	T	10: 18,660,263 (GRCm39)	I153K	probably damaging	Het
Gm6619	T	C	6: 131,463,401 (GRCm39)	I6T	unknown	Het
H2-Ab1	T	C	17: 34,486,537 (GRCm39)	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,694,057 (GRCm39)	L737F	probably damaging	Het
Hells	A	G	19: 38,929,079 (GRCm39)	N121D	probably benign	Het
Itga2	G	A	13: 115,012,073 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,446,516 (GRCm39)	D391G	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,223,390 (GRCm39)	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,126 (GRCm39)	M367T	probably benign	Het
Lrrc43	G	A	5: 123,642,339 (GRCm39)		probably null	Het
Man2a2	C	T	7: 80,012,693 (GRCm39)	G574D	probably benign	Het
Mier2	T	G	10: 79,378,503 (GRCm39)	K343T	probably damaging	Het
Msh5	A	T	17: 35,260,810 (GRCm39)		probably null	Het
Mtus1	T	C	8: 41,535,691 (GRCm39)	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,560,557 (GRCm39)	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,324,334 (GRCm39)	V723A	probably damaging	Het
Nectin3	G	A	16: 46,215,506 (GRCm39)	R79C	probably damaging	Het
Nlrc5	A	G	8: 95,248,583 (GRCm39)	E1735G	probably benign	Het
Nrros	A	G	16: 31,963,249 (GRCm39)	L220S	probably damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Oxa1l	C	T	14: 54,604,195 (GRCm39)	P152S	probably damaging	Het
Pdcd6ip	A	G	9: 113,484,174 (GRCm39)	Y818H	unknown	Het
Pik3cb	A	T	9: 98,942,312 (GRCm39)	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,825 (GRCm39)	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,349,055 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,463,074 (GRCm39)		probably benign	Het
Rcbtb1	T	C	14: 59,455,051 (GRCm39)	V95A	probably benign	Het
Retreg3	G	A	11: 101,010,644 (GRCm39)		probably benign	Het
Rhobtb1	T	C	10: 69,106,056 (GRCm39)	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3bgr	A	G	16: 96,007,860 (GRCm39)	Y75C	probably damaging	Het
Strip1	T	C	3: 107,520,761 (GRCm39)	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,024,810 (GRCm39)	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,589,355 (GRCm39)	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201 (GRCm39)	N694K	unknown	Het
Tymp	T	C	15: 89,260,894 (GRCm39)	R20G	probably benign	Het
Ubr4	A	G	4: 139,194,538 (GRCm39)	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,079,331 (GRCm39)	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 11,886,676 (GRCm39)	M96V	probably benign	Het
Wfdc8	C	T	2: 164,441,012 (GRCm39)	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,371,694 (GRCm39)	N62K	probably damaging	Het
Zfp579	G	T	7: 4,997,460 (GRCm39)	D150E	probably benign	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
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
R9718:Or52r1c	UTSW	7	102,735,196 (GRCm39)	missense	probably benign	0.00
R9752:Or52r1c	UTSW	7	102,735,669 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCAGTGACTGGAAACATCACC -3'
(R):5'- AATGATCTTGTTGGGGCAGAAG -3'

Sequencing Primer
(F):5'- GTGACTGGAAACATCACCATCCTTC -3'
(R):5'- AGGGCATCCTGGAGACCATG -3'

Posted On

2018-10-18