Mutagenetix > Incidental Mutation

Incidental Mutation 'R9276:Or51ah3'

703298

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

Accession Numbers

Essential gene?

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

Stock #

R9276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103209686-103210627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103210004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 107 (T107S)

Ref Sequence

ENSEMBL: ENSMUSP00000148872 (fasta)

Gene Model

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

AlphaFold

Q8VGY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000098198
AA Change: T107S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947
AA Change: T107S

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 damaging
Transcript: ENSMUST00000214345
AA Change: T107S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000214806

Predicted Effect

probably damaging
Transcript: ENSMUST00000215673
AA Change: T107S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000217293

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (83/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,819,887 (GRCm39)	R102S	probably benign	Het
Abitram	A	T	4: 56,806,141 (GRCm39)	K184N	probably benign	Het
Acvr2b	C	T	9: 119,231,616 (GRCm39)	T2M	probably benign	Het
Adamtsl3	A	G	7: 82,206,710 (GRCm39)		probably benign	Het
Adcy7	A	G	8: 89,052,014 (GRCm39)	Y894C	probably damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Amt	C	A	9: 108,178,410 (GRCm39)	T339K	probably benign	Het
Ankrd27	G	T	7: 35,319,995 (GRCm39)	V639L	probably benign	Het
Anxa10	G	T	8: 62,549,753 (GRCm39)	Q31K	probably damaging	Het
Ap1g2	T	C	14: 55,339,818 (GRCm39)	T454A	probably benign	Het
Boll	A	T	1: 55,399,812 (GRCm39)	I43N	possibly damaging	Het
Cacna1c	T	C	6: 118,601,394 (GRCm39)	D1472G		Het
Calcrl	T	C	2: 84,205,643 (GRCm39)	N16S	probably benign	Het
Ccdc191	C	T	16: 43,764,041 (GRCm39)	Q501*	probably null	Het
Cchcr1	T	C	17: 35,841,105 (GRCm39)	L658P	probably damaging	Het
Cfap46	A	T	7: 139,201,207 (GRCm39)	C1919S	unknown	Het
Col6a3	G	A	1: 90,735,403 (GRCm39)	L1356F	possibly damaging	Het
Dlc1	A	G	8: 37,046,558 (GRCm39)	S680P	possibly damaging	Het
Dock4	T	G	12: 40,699,404 (GRCm39)	M206R	possibly damaging	Het
Eml5	T	C	12: 98,765,060 (GRCm39)	K1630E	probably damaging	Het
Fat1	A	G	8: 45,488,514 (GRCm39)	T3432A	probably damaging	Het
Fcrl5	G	T	3: 87,343,138 (GRCm39)		probably benign	Het
Fcrla	A	G	1: 170,755,135 (GRCm39)		probably benign	Het
Fut4	C	A	9: 14,662,572 (GRCm39)	D241Y	probably benign	Het
Fzd6	A	G	15: 38,870,962 (GRCm39)		probably benign	Het
Gjc2	T	C	11: 59,068,453 (GRCm39)	T10A	probably damaging	Het
Gle1	C	T	2: 29,829,514 (GRCm39)	H203Y	possibly damaging	Het
Gm5565	A	T	5: 146,096,917 (GRCm39)	I74N	probably damaging	Het
Gnl2	T	A	4: 124,947,250 (GRCm39)	I624K	possibly damaging	Het
Gnpat	C	A	8: 125,614,524 (GRCm39)	N653K	probably benign	Het
Gstcd	A	G	3: 132,777,665 (GRCm39)	L382S	probably damaging	Het
Ipcef1	A	G	10: 6,857,936 (GRCm39)		probably benign	Het
Jmjd7	T	C	2: 119,860,895 (GRCm39)	V115A	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp2	T	G	12: 84,876,885 (GRCm39)	D440A	possibly damaging	Het
Macf1	T	G	4: 123,328,501 (GRCm39)	D4744A	probably damaging	Het
Mapk11	T	C	15: 89,029,372 (GRCm39)	D230G	probably damaging	Het
Mfsd6	A	C	1: 52,747,514 (GRCm39)	Y450*	probably null	Het
Mtmr9	A	G	14: 63,781,001 (GRCm39)	C30R	probably damaging	Het
Ncf1	G	A	5: 134,250,693 (GRCm39)	Q376*	probably null	Het
Ncor2	C	A	5: 125,113,150 (GRCm39)	R296M		Het
Or5d37	A	G	2: 87,923,806 (GRCm39)	V158A	probably benign	Het
Or5k8	A	G	16: 58,644,734 (GRCm39)	F113L	probably benign	Het
Or8b57	A	T	9: 40,003,632 (GRCm39)	I210K	possibly damaging	Het
Or8b8	C	A	9: 37,809,415 (GRCm39)	S238R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,392 (GRCm39)	L43*	probably null	Het
Pate9	A	T	9: 36,445,727 (GRCm39)	C75S	probably damaging	Het
Pcsk6	A	T	7: 65,559,950 (GRCm39)	I92F	probably damaging	Het
Plec	A	G	15: 76,060,445 (GRCm39)	V3164A	probably benign	Het
Prss16	A	G	13: 22,190,175 (GRCm39)		probably benign	Het
Ptch2	T	A	4: 116,967,505 (GRCm39)	H724Q	probably damaging	Het
Pzp	A	T	6: 128,499,077 (GRCm39)	F190Y	probably damaging	Het
Rab6a	A	G	7: 100,275,809 (GRCm39)	T41A	probably benign	Het
Rbm6	A	G	9: 107,660,926 (GRCm39)	L879P	probably damaging	Het
Rem1	T	A	2: 152,469,969 (GRCm39)		probably benign	Het
Rnf17	T	C	14: 56,719,554 (GRCm39)	S935P	probably damaging	Het
Ryr1	C	A	7: 28,802,254 (GRCm39)	V789L	probably damaging	Het
Scgb2b3	A	T	7: 31,059,528 (GRCm39)	M82K	possibly damaging	Het
Sgce	T	A	6: 4,674,585 (GRCm39)	L451F	probably damaging	Het
Slc25a17	A	C	15: 81,207,814 (GRCm39)	V258G	probably benign	Het
Spidr	G	A	16: 15,784,712 (GRCm39)	T452I	probably benign	Het
Tas2r129	A	G	6: 132,928,576 (GRCm39)	N171S	probably benign	Het
Tbc1d24	A	T	17: 24,405,114 (GRCm39)	V10E	probably damaging	Het
Tdo2	T	G	3: 81,876,885 (GRCm39)	M115L	probably benign	Het
Tdrd9	T	C	12: 111,980,935 (GRCm39)		probably null	Het
Tead1	T	A	7: 112,493,601 (GRCm39)	I376N	probably damaging	Het
Tmem26	A	G	10: 68,614,488 (GRCm39)	H301R	possibly damaging	Het
Tnxb	A	G	17: 34,929,134 (GRCm39)	T2726A	possibly damaging	Het
Trim43c	T	C	9: 88,723,966 (GRCm39)	M164T	probably benign	Het
Trpc1	G	A	9: 95,590,288 (GRCm39)	S723L	probably benign	Het
Txndc15	A	G	13: 55,865,914 (GRCm39)	D126G	probably benign	Het
Urb1	C	T	16: 90,569,463 (GRCm39)		probably benign	Het
Usp25	C	T	16: 76,910,721 (GRCm39)	H926Y	probably benign	Het
Uvssa	T	A	5: 33,572,180 (GRCm39)	M700K	possibly damaging	Het
Vdac1	T	A	11: 52,274,789 (GRCm39)	Y146N	probably damaging	Het
Vmn1r231	A	T	17: 21,110,560 (GRCm39)	S118R	probably benign	Het
Vmn1r41	A	G	6: 89,724,080 (GRCm39)	Y207C	probably damaging	Het
Vmn2r79	A	G	7: 86,687,045 (GRCm39)	I809V	probably damaging	Het
Vnn1	G	A	10: 23,776,794 (GRCm39)	G382R	probably damaging	Het
Xcr1	A	T	9: 123,685,680 (GRCm39)	H27Q	probably benign	Het
Yeats2	T	A	16: 19,975,786 (GRCm39)	N94K	probably benign	Het
Zfp28	C	T	7: 6,397,440 (GRCm39)	T625M	probably damaging	Het
Zfp521	T	C	18: 13,977,698 (GRCm39)	Q905R	probably benign	Het
Zfp804b	T	C	5: 6,821,398 (GRCm39)	D555G	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
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
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'- AGCCTGATGTACATCACCAC -3'
(R):5'- CTCTTAAGCAGTATAGGCAAGGG -3'

Sequencing Primer
(F):5'- TGATGTACATCACCACATTGGCAG -3'
(R):5'- CAAGGGCATCATGAGCGCTAC -3'

Posted On

2022-03-25