Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Or51ah3'

592936

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

067780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103209686-103210627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103210425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 247 (F247S)

Ref Sequence

ENSEMBL: ENSMUSP00000148872 (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: F247S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947
AA Change: F247S

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: F247S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000214806

Predicted Effect

probably benign
Transcript: ENSMUST00000215673
AA Change: F247S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000217293

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,659 (GRCm39)	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807 (GRCm38)	F60S	probably damaging	Het
Adam6b	G	A	12: 113,455,196 (GRCm39)	W671*	probably null	Het
Ankrd36	A	G	11: 5,520,113 (GRCm39)	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,366,285 (GRCm39)	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,869,663 (GRCm39)	M659K	probably benign	Het
Cacna1h	A	G	17: 25,608,346 (GRCm39)	Y854H	probably damaging	Het
Chd3	A	T	11: 69,248,692 (GRCm39)	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,359,335 (GRCm39)	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,533,450 (GRCm39)	D58E	probably damaging	Het
Cul9	T	G	17: 46,820,815 (GRCm39)	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,375,549 (GRCm39)	F11I	probably benign	Het
Cysrt1	A	T	2: 25,129,094 (GRCm39)	C139*	probably null	Het
Dnajc16	A	G	4: 141,501,879 (GRCm39)	V317A	probably benign	Het
Dnmt3a	T	C	12: 3,947,340 (GRCm39)	V437A	probably benign	Het
Dok5	T	C	2: 170,683,344 (GRCm39)	C202R	probably damaging	Het
Dusp11	T	A	6: 85,927,542 (GRCm39)	R164S	probably damaging	Het
Dysf	T	C	6: 84,077,117 (GRCm39)	S648P	probably benign	Het
Egfem1	A	T	3: 29,744,334 (GRCm39)	R581S	probably damaging	Het
Enpep	A	G	3: 129,115,094 (GRCm39)	F226S	probably damaging	Het
Ep400	A	G	5: 110,845,218 (GRCm39)	I1541T	unknown	Het
Exd1	A	G	2: 119,350,684 (GRCm39)	S526P	probably damaging	Het
Fam118a	A	G	15: 84,942,982 (GRCm39)	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,518,215 (GRCm39)	N193S	probably benign	Het
Fat3	A	G	9: 15,899,564 (GRCm39)		probably null	Het
Flg2	T	C	3: 93,126,956 (GRCm39)	V1956A	unknown	Het
Fzd10	A	G	5: 128,678,480 (GRCm39)	I67V	possibly damaging	Het
Gckr	A	T	5: 31,465,141 (GRCm39)	D370V	probably damaging	Het
Gm8797	A	T	3: 5,816,148 (GRCm39)	Q62L	probably benign	Het
H6pd	G	T	4: 150,080,519 (GRCm39)	Q109K	probably benign	Het
Higd1a	T	C	9: 121,679,322 (GRCm39)	K55R	possibly damaging	Het
Il1b	C	T	2: 129,209,277 (GRCm39)	V118I	probably benign	Het
Insr	T	C	8: 3,219,753 (GRCm39)	N923S	possibly damaging	Het
Krit1	A	G	5: 3,880,723 (GRCm39)	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,002,771 (GRCm39)	D1070G	probably null	Het
Lpcat2	T	A	8: 93,635,823 (GRCm39)	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,788,762 (GRCm39)	F427Y	probably benign	Het
Mtx1	A	T	3: 89,117,739 (GRCm39)	I258K	possibly damaging	Het
Nckap5	T	C	1: 125,954,594 (GRCm39)	T653A	probably benign	Het
Npas3	A	T	12: 54,115,609 (GRCm39)	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,194,522 (GRCm39)	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,070,348 (GRCm39)	K154N	probably damaging	Het
Oard1	T	C	17: 48,723,726 (GRCm39)	L124P	probably damaging	Het
Or10ag57	T	C	2: 87,218,372 (GRCm39)	S108P	probably damaging	Het
Or10ak13	T	C	4: 118,639,471 (GRCm39)	M104V	probably benign	Het
Or51a10	G	A	7: 103,698,667 (GRCm39)	T298I	probably damaging	Het
Ovgp1	A	T	3: 105,887,272 (GRCm39)	T223S	probably damaging	Het
Pik3c2a	A	T	7: 115,987,312 (GRCm39)	Y536*	probably null	Het
Plekho2	A	T	9: 65,466,816 (GRCm39)		probably null	Het
Prelid3b	T	C	2: 174,310,210 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,578,214 (GRCm39)	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,532,311 (GRCm39)	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,044,577 (GRCm39)	V177L	probably benign	Het
Slc22a8	A	G	19: 8,587,294 (GRCm39)	I451M	probably benign	Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Snx20	T	C	8: 89,353,863 (GRCm39)	D289G	probably benign	Het
Sptb	A	G	12: 76,658,969 (GRCm39)	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,473,829 (GRCm39)	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,038,559 (GRCm39)		probably benign	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Thy1	G	A	9: 43,957,855 (GRCm39)	G13D	unknown	Het
Ticam1	A	G	17: 56,576,984 (GRCm39)	S704P	unknown	Het
Tmem151b	A	G	17: 45,857,929 (GRCm39)	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,996,559 (GRCm39)	N452S	probably benign	Het
Ttc9c	A	G	19: 8,789,128 (GRCm39)	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,385,325 (GRCm39)	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,758,862 (GRCm39)	S245Y	probably damaging	Het
Urb1	A	T	16: 90,583,006 (GRCm39)	L621*	probably null	Het
Wdr72	A	T	9: 74,054,292 (GRCm39)	T224S	probably damaging	Het
Zc3h18	T	G	8: 123,134,165 (GRCm39)	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908 (GRCm39)	N291K	probably benign	Het
Zfp609	T	C	9: 65,638,362 (GRCm39)	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,697,799 (GRCm39)	H303Q	probably 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
R0189:Or51ah3	UTSW	7	103,210,289 (GRCm39)	missense	probably benign	0.01
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
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'- GATTACCATTCTGCAAGGGGC -3'
(R):5'- TCTCAAGGCAGAGCGAATC -3'

Sequencing Primer
(F):5'- CCAAATGTCATGAAACTAGCCTGTGG -3'
(R):5'- AGAGCGAATCTGCTTGGTC -3'

Posted On

2019-11-12