Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Or7c19'

356216

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

041951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85957126-85958064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85957237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

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: T38A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: T38A

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: T38A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.3129

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	probably benign	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
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
R7754:Or7c19	UTSW	8	85,957,427 (GRCm39)	missense	possibly damaging	0.71
R8955:Or7c19	UTSW	8	85,957,913 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTAAGGCAGATGCACTCCGC -3'
(R):5'- TCCGAAGACTGTGAAGAAGTAC -3'

Sequencing Primer
(F):5'- GGCAGATGCACTCCGCTATATTTG -3'
(R):5'- CATCTGTGTGATGCAGCCTGC -3'

Posted On

2015-10-21