Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Or7c19'

597445

Institutional Source

Beutler Lab

Gene Symbol

Or7c19

Ensembl Gene

ENSMUSG00000051952

Gene Name

olfactory receptor family 7 subfamily C member 19

Synonyms

MOR141-3, Olfr371, GA_x6K02T2NUPS-13298842-13299780

MMRRC Submission

045810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85957126-85958064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85957427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 101 (M101K)

Ref Sequence

ENSEMBL: ENSMUSP00000151714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070849] [ENSMUST00000218663]

AlphaFold

Q8VGB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070849
AA Change: M101K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: M101K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.1e-55	PFAM
Pfam:7TM_GPCR_Srx	32	305	2.2e-6	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.2e-8	PFAM
Pfam:7tm_1	41	290	9.2e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218663
AA Change: M101K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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
4930553M12Rik	A	T	4: 88,786,496 (GRCm39)	W41R	unknown	Het
Aatf	G	A	11: 84,402,335 (GRCm39)	S117L	possibly damaging	Het
Abca12	C	A	1: 71,342,046 (GRCm39)	V972L	probably benign	Het
Abcb11	T	A	2: 69,117,162 (GRCm39)	R495S	probably damaging	Het
Acss2	T	A	2: 155,403,086 (GRCm39)	H621Q	probably benign	Het
Akap9	T	C	5: 4,096,736 (GRCm39)	L2537P	probably benign	Het
Apbb1	C	T	7: 105,208,509 (GRCm39)	A597T	probably damaging	Het
Cacna1d	A	T	14: 29,797,809 (GRCm39)	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,288,863 (GRCm39)	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,463,371 (GRCm39)	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,163,145 (GRCm39)	K331E	probably damaging	Het
Cplane1	C	A	15: 8,273,310 (GRCm39)	Q2534K	possibly damaging	Het
Cstpp1	A	T	2: 91,135,188 (GRCm39)		probably null	Het
D430041D05Rik	A	T	2: 104,087,504 (GRCm39)	Y491N	probably benign	Het
Dnah6	T	C	6: 73,002,703 (GRCm39)	I3898V	probably benign	Het
Drd2	A	G	9: 49,316,277 (GRCm39)	T346A	probably benign	Het
Efcab9	T	C	11: 32,472,941 (GRCm39)	T169A	possibly damaging	Het
Fam163a	A	T	1: 155,955,729 (GRCm39)	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,329,389 (GRCm39)	D457N	probably benign	Het
Fbn1	A	T	2: 125,321,200 (GRCm39)		probably null	Het
Gpr37	A	T	6: 25,689,049 (GRCm39)	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,330,175 (GRCm39)	D265G	probably benign	Het
Idh1	G	T	1: 65,198,649 (GRCm39)	A407D	probably benign	Het
Ifna12	A	G	4: 88,521,415 (GRCm39)	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,461,561 (GRCm39)	M109V	probably benign	Het
Jag2	A	T	12: 112,879,089 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,761 (GRCm39)	D572G	unknown	Het
Lcn11	G	A	2: 25,667,830 (GRCm39)	V73I	probably benign	Het
Lrba	A	G	3: 86,352,704 (GRCm39)	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,860,012 (GRCm39)		probably null	Het
Malrd1	G	A	2: 15,802,610 (GRCm39)		probably null	Het
Morc2b	C	A	17: 33,356,218 (GRCm39)	G518V	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Neto2	C	A	8: 86,396,329 (GRCm39)	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,488,467 (GRCm39)	V623I	probably damaging	Het
Optc	A	G	1: 133,834,730 (GRCm39)	S15P	possibly damaging	Het
Or1e25	C	T	11: 73,494,332 (GRCm39)	Q309*	probably null	Het
Or1l4b	A	G	2: 37,036,858 (GRCm39)	I211M	possibly damaging	Het
Or52e19b	C	A	7: 103,032,945 (GRCm39)	W88L	probably damaging	Het
Or9k2	T	G	10: 129,998,698 (GRCm39)	T166P	probably damaging	Het
Otogl	A	G	10: 107,705,407 (GRCm39)	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,023 (GRCm39)	S5P	probably benign	Het
Pde3a	A	T	6: 141,404,975 (GRCm39)	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,449,804 (GRCm39)	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,443,695 (GRCm39)		probably null	Het
Plxna4	G	T	6: 32,129,807 (GRCm39)	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,140,904 (GRCm39)	V89A	probably benign	Het
Rapgef3	T	C	15: 97,655,627 (GRCm39)	D420G	probably damaging	Het
Rnf17	T	A	14: 56,699,529 (GRCm39)		probably null	Het
Rps6ka2	T	A	17: 7,544,848 (GRCm39)		probably null	Het
Rptn	A	T	3: 93,303,228 (GRCm39)	D187V	probably damaging	Het
Rtn1	T	C	12: 72,355,203 (GRCm39)	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,155,871 (GRCm39)	H101L	probably benign	Het
Septin3	A	G	15: 82,174,974 (GRCm39)	N305S	probably benign	Het
Serpina3f	G	T	12: 104,183,565 (GRCm39)	K142N	possibly damaging	Het
Ssh1	C	A	5: 114,104,295 (GRCm39)	R116L	probably benign	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tlr6	T	C	5: 65,111,693 (GRCm39)	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,098,634 (GRCm39)	A70T	probably benign	Het
Ttn	A	T	2: 76,618,540 (GRCm39)	I16248N	probably damaging	Het
Ttn	A	T	2: 76,655,849 (GRCm39)		probably null	Het
Vldlr	A	T	19: 27,195,015 (GRCm39)	M1L	probably benign	Het
Wscd1	A	G	11: 71,675,191 (GRCm39)	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,251,496 (GRCm39)		probably null	Het
Zfp827	T	C	8: 79,916,958 (GRCm39)	V511A		Het

Other mutations in Or7c19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Or7c19	APN	8	85,957,813 (GRCm39)	missense	probably benign	0.14
IGL01380:Or7c19	APN	8	85,957,775 (GRCm39)	missense	probably damaging	0.99
IGL01380:Or7c19	APN	8	85,957,958 (GRCm39)	missense	possibly damaging	0.95
IGL01680:Or7c19	APN	8	85,957,308 (GRCm39)	missense	probably benign
IGL01880:Or7c19	APN	8	85,957,712 (GRCm39)	missense	probably benign	0.00
IGL02194:Or7c19	APN	8	85,957,262 (GRCm39)	missense	possibly damaging	0.82
IGL02416:Or7c19	APN	8	85,957,662 (GRCm39)	nonsense	probably null
IGL02494:Or7c19	APN	8	85,957,312 (GRCm39)	missense	possibly damaging	0.95
IGL03072:Or7c19	APN	8	85,957,139 (GRCm39)	missense	probably benign	0.08
IGL03130:Or7c19	APN	8	85,957,258 (GRCm39)	missense	possibly damaging	0.93
R0017:Or7c19	UTSW	8	85,957,706 (GRCm39)	missense	probably benign	0.25
R1157:Or7c19	UTSW	8	85,957,889 (GRCm39)	missense	probably damaging	0.98
R1165:Or7c19	UTSW	8	85,957,400 (GRCm39)	missense	probably damaging	0.98
R1730:Or7c19	UTSW	8	85,957,477 (GRCm39)	missense	probably benign	0.16
R2017:Or7c19	UTSW	8	85,957,373 (GRCm39)	missense	possibly damaging	0.91
R2426:Or7c19	UTSW	8	85,957,693 (GRCm39)	missense	probably damaging	0.97
R4447:Or7c19	UTSW	8	85,957,995 (GRCm39)	nonsense	probably null
R4703:Or7c19	UTSW	8	85,957,237 (GRCm39)	missense	possibly damaging	0.95
R4797:Or7c19	UTSW	8	85,957,567 (GRCm39)	missense	probably benign
R5029:Or7c19	UTSW	8	85,957,835 (GRCm39)	missense	probably benign	0.00
R5173:Or7c19	UTSW	8	85,957,205 (GRCm39)	missense	probably damaging	0.99
R6349:Or7c19	UTSW	8	85,957,787 (GRCm39)	missense	possibly damaging	0.93
R8955:Or7c19	UTSW	8	85,957,913 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACCTGCTCATCATCCTGGC -3'
(R):5'- GGAATTTCCACGACTGCACAG -3'

Sequencing Primer
(F):5'- GGCCATTGTCTCTGACCCTAAG -3'
(R):5'- GTCTCAGTGCAGTTAAACTCTCAGG -3'

Posted On

2019-11-26