Mutagenetix > Incidental Mutation

Incidental Mutation 'R0189:Or51ah3'

23109

Institutional Source

Beutler Lab

Gene Symbol

Or51ah3

Ensembl Gene

ENSMUSG00000073947

Gene Name

olfactory receptor family 51 subfamily AH member 3

Synonyms

MOR19-2, GA_x6K02T2PBJ9-6284902-6285843, Olfr615

MMRRC Submission

038450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0189 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103209686-103210627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103210289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 202 (V202F)

Ref Sequence

ENSEMBL: ENSMUSP00000150166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098198] [ENSMUST00000106886] [ENSMUST00000214345] [ENSMUST00000214806] [ENSMUST00000215673] [ENSMUST00000217293]

AlphaFold

Q8VGY4

Predicted Effect

probably benign
Transcript: ENSMUST00000098198
AA Change: V202F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947
AA Change: V202F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	2.5e-105	PFAM
Pfam:7TM_GPCR_Srsx	36	253	8.5e-9	PFAM
Pfam:7tm_1	42	293	8.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106886

SMART Domains

Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:7tm_4	33	311	1.1e-116	PFAM
Pfam:7TM_GPCR_Srsx	37	309	1.2e-6	PFAM
Pfam:7tm_1	43	294	4.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214345
AA Change: V202F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000214806

Predicted Effect

probably benign
Transcript: ENSMUST00000215673
AA Change: V202F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000217293

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.1%

Validation Efficiency

98% (96/98)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 109,999,479 (GRCm39)	W1459R	probably damaging	Het
Abca9	A	T	11: 110,032,488 (GRCm39)		probably benign	Het
Adam25	T	A	8: 41,208,467 (GRCm39)	C578S	probably damaging	Het
Adam32	T	A	8: 25,412,353 (GRCm39)		probably null	Het
Add1	T	C	5: 34,773,992 (GRCm39)	V67A	probably benign	Het
Aggf1	A	T	13: 95,492,988 (GRCm39)		probably benign	Het
Ahcyl2	A	T	6: 29,891,242 (GRCm39)	I449F	probably benign	Het
Ak6	A	G	13: 100,791,650 (GRCm39)	Y31C	probably damaging	Het
Akap6	T	C	12: 53,188,037 (GRCm39)	V1817A	probably benign	Het
Arhgef17	G	T	7: 100,578,057 (GRCm39)	P964T	probably damaging	Het
Atxn7l3b	A	T	10: 112,764,485 (GRCm39)	L48Q	possibly damaging	Het
Bbs10	T	G	10: 111,136,926 (GRCm39)	S680A	probably damaging	Het
Bcl7c	G	A	7: 127,304,936 (GRCm39)	T164I	probably damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Ccdc110	T	A	8: 46,388,119 (GRCm39)	D25E	probably damaging	Het
Ccdc83	T	A	7: 89,875,891 (GRCm39)	T327S	possibly damaging	Het
Coro1b	T	C	19: 4,203,250 (GRCm39)	Y364H	probably damaging	Het
Cstf3	A	G	2: 104,482,791 (GRCm39)	D313G	probably damaging	Het
Dlgap5	T	A	14: 47,650,432 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,547 (GRCm39)	I83N	probably damaging	Het
Eea1	A	T	10: 95,831,444 (GRCm39)	K178N	possibly damaging	Het
Efr3b	T	A	12: 4,032,925 (GRCm39)	D144V	probably damaging	Het
Gfus	C	A	15: 75,798,827 (GRCm39)	D127Y	probably damaging	Het
Gm1110	T	A	9: 26,794,514 (GRCm39)	E504V	probably null	Het
Got2	T	C	8: 96,614,881 (GRCm39)	H18R	probably benign	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Has2	A	T	15: 56,531,831 (GRCm39)	F295I	probably damaging	Het
Hcn3	T	C	3: 89,056,107 (GRCm39)	D519G	probably damaging	Het
Ino80	T	A	2: 119,210,160 (GRCm39)	D1377V	probably benign	Het
Iqsec3	A	T	6: 121,390,521 (GRCm39)		probably benign	Het
Kif3c	T	A	12: 3,415,989 (GRCm39)	S3R	probably benign	Het
Krt17	A	G	11: 100,151,445 (GRCm39)	I116T	possibly damaging	Het
Lrba	T	C	3: 86,275,816 (GRCm39)	V1728A	probably damaging	Het
Map3k6	G	T	4: 132,974,252 (GRCm39)	V550L	possibly damaging	Het
Mcph1	T	C	8: 18,838,487 (GRCm39)	V803A	probably damaging	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Ms4a20	A	G	19: 11,074,311 (GRCm39)	V207A	possibly damaging	Het
Msh5	T	C	17: 35,248,630 (GRCm39)	E772G	probably null	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndfip2	T	C	14: 105,542,174 (GRCm39)	L308P	probably damaging	Het
Ndufb10	T	C	17: 24,943,209 (GRCm39)	T34A	probably benign	Het
Nipal3	A	T	4: 135,195,829 (GRCm39)	I258N	possibly damaging	Het
Nup54	A	G	5: 92,570,423 (GRCm39)	V328A	probably damaging	Het
Oprm1	T	C	10: 6,739,071 (GRCm39)	V66A	possibly damaging	Het
Or10p21	T	A	10: 128,847,191 (GRCm39)	F12L	possibly damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8b56	T	A	9: 38,739,111 (GRCm39)	Y41*	probably null	Het
Or9s14	T	C	1: 92,535,615 (GRCm39)	F19L	probably damaging	Het
Peg12	G	A	7: 62,113,296 (GRCm39)	T267I	unknown	Het
Phf20	A	G	2: 156,145,061 (GRCm39)	S890G	probably benign	Het
Plk2	C	T	13: 110,535,997 (GRCm39)	T567M	probably damaging	Het
Pola2	A	T	19: 5,992,370 (GRCm39)		probably benign	Het
Ppp1r12b	A	G	1: 134,793,514 (GRCm39)		probably null	Het
Prickle1	A	T	15: 93,400,900 (GRCm39)	L528*	probably null	Het
Prpf6	T	A	2: 181,297,250 (GRCm39)	N903K	probably benign	Het
Ptprc	G	A	1: 138,010,453 (GRCm39)	A601V	probably benign	Het
Ranbp1	A	T	16: 18,059,607 (GRCm39)		probably null	Het
Rapgef6	C	T	11: 54,582,075 (GRCm39)	S1334L	probably benign	Het
Rgs2	T	C	1: 143,878,022 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,129,125 (GRCm39)		probably null	Het
Rnf17	A	G	14: 56,719,650 (GRCm39)	S967G	probably null	Het
Rock2	T	A	12: 17,009,517 (GRCm39)		probably benign	Het
Rpusd3	C	T	6: 113,392,514 (GRCm39)		probably null	Het
Scgb1b20	G	T	7: 33,072,935 (GRCm39)	V48L	probably benign	Het
Sec16a	T	A	2: 26,314,426 (GRCm39)		probably null	Het
Serpina5	T	A	12: 104,069,589 (GRCm39)	L267H	probably damaging	Het
Slc12a3	C	T	8: 95,082,986 (GRCm39)	H875Y	probably benign	Het
Slc45a4	A	G	15: 73,453,763 (GRCm39)	S745P	probably benign	Het
Sucla2	T	C	14: 73,830,088 (GRCm39)	V375A	probably damaging	Het
Sun2	C	A	15: 79,621,277 (GRCm39)	V213F	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	C	T	6: 7,562,424 (GRCm39)	R129C	probably damaging	Het
Taf6	T	C	5: 138,180,975 (GRCm39)	E202G	probably benign	Het
Tex21	T	A	12: 76,286,307 (GRCm39)	H64L	probably benign	Het
Tgs1	A	G	4: 3,593,620 (GRCm39)	S503G	probably benign	Het
Tmem184c	C	T	8: 78,324,441 (GRCm39)	V350I	possibly damaging	Het
Tnks1bp1	A	G	2: 84,901,273 (GRCm39)	S960G	possibly damaging	Het
Trbc2	T	C	6: 41,525,083 (GRCm39)		probably benign	Het
Tubgcp2	A	T	7: 139,581,518 (GRCm39)		probably benign	Het
Vmn1r39	T	A	6: 66,782,181 (GRCm39)	T46S	probably benign	Het
Vmn1r61	T	C	7: 5,613,699 (GRCm39)	H205R	probably benign	Het
Zdhhc14	T	C	17: 5,775,539 (GRCm39)	S264P	possibly damaging	Het
Zfp101	T	A	17: 33,601,213 (GRCm39)	H181L	possibly damaging	Het

Other mutations in Or51ah3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Or51ah3	APN	7	103,210,563 (GRCm39)	missense	probably damaging	1.00
IGL01310:Or51ah3	APN	7	103,210,008 (GRCm39)	missense	probably benign
IGL01597:Or51ah3	APN	7	103,210,349 (GRCm39)	missense	possibly damaging	0.79
IGL01725:Or51ah3	APN	7	103,210,282 (GRCm39)	nonsense	probably null
IGL03291:Or51ah3	APN	7	103,210,119 (GRCm39)	missense	possibly damaging	0.93
R0055:Or51ah3	UTSW	7	103,210,244 (GRCm39)	missense	probably damaging	1.00
R0055:Or51ah3	UTSW	7	103,210,244 (GRCm39)	missense	probably damaging	1.00
R0254:Or51ah3	UTSW	7	103,209,829 (GRCm39)	nonsense	probably null
R1395:Or51ah3	UTSW	7	103,210,326 (GRCm39)	missense	possibly damaging	0.92
R1781:Or51ah3	UTSW	7	103,209,773 (GRCm39)	missense	probably benign	0.34
R2866:Or51ah3	UTSW	7	103,210,064 (GRCm39)	missense	probably damaging	1.00
R2958:Or51ah3	UTSW	7	103,210,512 (GRCm39)	missense	possibly damaging	0.54
R3922:Or51ah3	UTSW	7	103,209,912 (GRCm39)	missense	probably benign	0.00
R4306:Or51ah3	UTSW	7	103,210,380 (GRCm39)	missense	possibly damaging	0.50
R4306:Or51ah3	UTSW	7	103,210,379 (GRCm39)	nonsense	probably null
R4818:Or51ah3	UTSW	7	103,209,968 (GRCm39)	missense	probably benign	0.07
R4907:Or51ah3	UTSW	7	103,210,241 (GRCm39)	missense	possibly damaging	0.85
R4993:Or51ah3	UTSW	7	103,210,524 (GRCm39)	missense	possibly damaging	0.63
R5461:Or51ah3	UTSW	7	103,209,780 (GRCm39)	missense	probably damaging	1.00
R6225:Or51ah3	UTSW	7	103,210,489 (GRCm39)	missense	probably benign	0.01
R6621:Or51ah3	UTSW	7	103,210,085 (GRCm39)	missense	possibly damaging	0.93
R7174:Or51ah3	UTSW	7	103,210,598 (GRCm39)	nonsense	probably null
R7665:Or51ah3	UTSW	7	103,210,523 (GRCm39)	missense	probably benign	0.00
R7684:Or51ah3	UTSW	7	103,210,425 (GRCm39)	missense	probably benign	0.01
R8812:Or51ah3	UTSW	7	103,209,816 (GRCm39)	missense	probably benign	0.01
R8934:Or51ah3	UTSW	7	103,210,290 (GRCm39)	missense	probably benign	0.01
R9199:Or51ah3	UTSW	7	103,210,143 (GRCm39)	missense	probably damaging	1.00
R9243:Or51ah3	UTSW	7	103,209,782 (GRCm39)	missense	probably benign
R9276:Or51ah3	UTSW	7	103,210,004 (GRCm39)	missense	probably damaging	1.00
Z1088:Or51ah3	UTSW	7	103,210,597 (GRCm39)	missense	probably damaging	0.97
Z1088:Or51ah3	UTSW	7	103,210,266 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGAACTCACGAGTCACCAGGATG -3'
(R):5'- AGAGCGAATCTGCTTGGTCTTCAG -3'

Sequencing Primer
(F):5'- ATGGGACTGGCAGCTTTTC -3'
(R):5'- GGTCTTCAGGCTATACACAATTGG -3'

Posted On

2013-04-16