Mutagenetix > Incidental Mutation

Incidental Mutation 'R7367:Or2c1'

571902

Institutional Source

Beutler Lab

Gene Symbol

Or2c1

Ensembl Gene

ENSMUSG00000059043

Gene Name

olfactory receptor family 2 subfamily C member 1

Synonyms

GA_x54KRFPKG5P-348087-349025, Olfr15, MOR256-17, OR3

MMRRC Submission

045451-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R7367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3656839-3657777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3657166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 110 (T110A)

Ref Sequence

ENSEMBL: ENSMUSP00000149504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080917] [ENSMUST00000214238] [ENSMUST00000214590]

AlphaFold

P23275

Predicted Effect

probably damaging
Transcript: ENSMUST00000080917
AA Change: T110A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079720
Gene: ENSMUSG00000059043
AA Change: T110A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	25	301	2.7e-8	PFAM
Pfam:7tm_4	31	307	1.3e-52	PFAM
Pfam:7tm_1	41	290	9.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214238
AA Change: T110A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214590
AA Change: T110A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,996,312 (GRCm39)	T374A	probably benign	Het
Agps	T	A	2: 75,698,657 (GRCm39)	H348Q	possibly damaging	Het
Ankrd34b	C	A	13: 92,574,795 (GRCm39)	T9K	probably benign	Het
Atp10b	A	G	11: 43,138,328 (GRCm39)	Q1203R	probably damaging	Het
B4galnt4	A	G	7: 140,644,388 (GRCm39)	N123D	probably damaging	Het
Ccn6	A	G	10: 39,034,261 (GRCm39)	C114R	probably damaging	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfh	A	T	1: 140,014,259 (GRCm39)	H1188Q	probably damaging	Het
Cisd1	A	G	10: 71,172,190 (GRCm39)	Y31H	probably damaging	Het
Cnga1	G	A	5: 72,762,701 (GRCm39)	S271F	possibly damaging	Het
Cntnap5a	A	G	1: 116,370,025 (GRCm39)	T881A	probably benign	Het
Cracd	T	A	5: 77,004,449 (GRCm39)	L270Q	unknown	Het
Cyp2s1	A	T	7: 25,505,398 (GRCm39)	D355E	possibly damaging	Het
Dnaaf10	A	G	11: 17,182,712 (GRCm39)	Y291C	probably damaging	Het
Dnah11	T	A	12: 117,951,177 (GRCm39)	R3044W	possibly damaging	Het
Dnah17	T	C	11: 118,006,022 (GRCm39)	D730G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Flacc1	A	T	1: 58,706,023 (GRCm39)	I282N	probably benign	Het
Fsd2	A	G	7: 81,184,928 (GRCm39)	I656T	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm45871	A	T	18: 90,609,224 (GRCm39)	H154L	probably benign	Het
Golgb1	T	A	16: 36,718,908 (GRCm39)	N312K	probably benign	Het
H2ac4	A	G	13: 23,935,333 (GRCm39)	D73G	possibly damaging	Het
Hsd17b4	T	A	18: 50,288,252 (GRCm39)	H227Q	probably damaging	Het
Hsd17b6	A	T	10: 127,829,492 (GRCm39)	S237T	probably benign	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Kcnv1	C	T	15: 44,972,638 (GRCm39)	C415Y	probably damaging	Het
Kif11	T	A	19: 37,408,789 (GRCm39)	L1037H	probably benign	Het
Lama5	T	C	2: 179,834,751 (GRCm39)	T1347A	probably benign	Het
Lrrc32	G	T	7: 98,148,086 (GRCm39)	E289*	probably null	Het
Lrrc66	T	C	5: 73,765,724 (GRCm39)	T440A	probably benign	Het
Neurl4	T	C	11: 69,799,408 (GRCm39)	L928P	probably damaging	Het
Nos2	G	A	11: 78,840,916 (GRCm39)	C788Y	possibly damaging	Het
Or4x11	A	G	2: 89,868,156 (GRCm39)	S298G	probably benign	Het
Or5m5	T	C	2: 85,814,687 (GRCm39)	W168R	possibly damaging	Het
Pafah1b3	A	G	7: 24,995,491 (GRCm39)	C156R	probably benign	Het
Pak1ip1	T	G	13: 41,162,371 (GRCm39)	N151K	probably damaging	Het
Pax7	G	A	4: 139,507,060 (GRCm39)	P326S	probably benign	Het
Pex11b	G	A	3: 96,543,994 (GRCm39)	A21T	probably damaging	Het
Pkn2	A	G	3: 142,516,488 (GRCm39)	V546A	probably benign	Het
Ppat	T	A	5: 77,067,711 (GRCm39)	R260*	probably null	Het
Ppp1r13l	C	G	7: 19,104,081 (GRCm39)	S187R	probably benign	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
R3hdm1	A	G	1: 128,081,129 (GRCm39)	D55G	possibly damaging	Het
Rev1	A	T	1: 38,113,488 (GRCm39)	Y526*	probably null	Het
Rp1	A	G	1: 4,418,221 (GRCm39)	W964R	probably benign	Het
Sarnp	A	G	10: 128,669,247 (GRCm39)	I35V	probably damaging	Het
Sec23a	T	C	12: 59,013,785 (GRCm39)	N730S	probably benign	Het
Sh3d19	A	G	3: 86,011,535 (GRCm39)	K374E	probably benign	Het
Sh3tc2	A	G	18: 62,122,577 (GRCm39)	D446G	probably benign	Het
Sugct	T	A	13: 17,819,399 (GRCm39)	I149F	probably damaging	Het
Tle2	A	G	10: 81,416,152 (GRCm39)	N142S	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trpm1	T	A	7: 63,918,549 (GRCm39)	Y1514N	probably benign	Het
Ubr4	C	T	4: 139,180,002 (GRCm39)	S259L	unknown	Het
Utp20	A	T	10: 88,631,305 (GRCm39)	L892Q	probably benign	Het
Zfp956	C	T	6: 47,940,853 (GRCm39)	T404M	probably damaging	Het

Other mutations in Or2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Or2c1	APN	16	3,657,641 (GRCm39)	missense	probably damaging	0.99
IGL02444:Or2c1	APN	16	3,657,551 (GRCm39)	missense	probably damaging	1.00
IGL02516:Or2c1	APN	16	3,657,200 (GRCm39)	missense	probably damaging	1.00
IGL02941:Or2c1	APN	16	3,657,680 (GRCm39)	missense	possibly damaging	0.64
PIT4812001:Or2c1	UTSW	16	3,657,394 (GRCm39)	nonsense	probably null
R0380:Or2c1	UTSW	16	3,656,849 (GRCm39)	missense	probably benign
R1542:Or2c1	UTSW	16	3,657,696 (GRCm39)	missense	probably damaging	1.00
R1574:Or2c1	UTSW	16	3,657,521 (GRCm39)	missense	probably damaging	0.99
R1574:Or2c1	UTSW	16	3,657,521 (GRCm39)	missense	probably damaging	0.99
R1633:Or2c1	UTSW	16	3,657,396 (GRCm39)	missense	probably damaging	1.00
R4207:Or2c1	UTSW	16	3,657,434 (GRCm39)	missense	probably damaging	1.00
R4632:Or2c1	UTSW	16	3,656,951 (GRCm39)	missense	probably damaging	1.00
R4965:Or2c1	UTSW	16	3,657,434 (GRCm39)	missense	probably damaging	1.00
R5014:Or2c1	UTSW	16	3,656,912 (GRCm39)	missense	probably benign	0.01
R6575:Or2c1	UTSW	16	3,656,894 (GRCm39)	missense	probably benign	0.00
R7523:Or2c1	UTSW	16	3,657,563 (GRCm39)	missense	probably benign
R7697:Or2c1	UTSW	16	3,657,430 (GRCm39)	missense	probably damaging	0.96
R7876:Or2c1	UTSW	16	3,656,658 (GRCm39)	splice site	probably null
R9536:Or2c1	UTSW	16	3,657,438 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GGAACTTGACCATCATCCTGC -3'
(R):5'- AAGTTGTCCACTTTTCGGTGTC -3'

Sequencing Primer
(F):5'- GAACTTGACCATCATCCTGCTTTCG -3'
(R):5'- TGTCCGCAAAATGGGAGCTG -3'

Posted On

2019-09-13