Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Or51ag1'

478865

Institutional Source

Beutler Lab

Gene Symbol

Or51ag1

Ensembl Gene

ENSMUSG00000045584

Gene Name

olfactory receptor family 51 subfamily AG member 1

Synonyms

GA_x6K02T2PBJ9-6221839-6220892, Olfr610, MOR9-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103155204-103156151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103156006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 49 (H49L)

Ref Sequence

ENSEMBL: ENSMUSP00000150921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063109] [ENSMUST00000217627]

AlphaFold

E9Q598

Predicted Effect

probably benign
Transcript: ENSMUST00000063109
AA Change: H49L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052577
Gene: ENSMUSG00000045584
AA Change: H49L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	3.5e-106	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1.9e-10	PFAM
Pfam:7tm_1	43	295	1.4e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213422

Predicted Effect

probably benign
Transcript: ENSMUST00000217627
AA Change: H49L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,036,439 (GRCm39)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,732,851 (GRCm39)	L41*	probably null	Het
Actn1	C	A	12: 80,221,229 (GRCm39)		probably null	Het
Adamts15	G	T	9: 30,813,358 (GRCm39)	R936S	probably benign	Het
Angel2	T	C	1: 190,665,068 (GRCm39)	S22P	probably benign	Het
Ank2	T	G	3: 126,740,470 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,337,563 (GRCm39)	D423G	probably damaging	Het
Casp9	A	G	4: 141,523,849 (GRCm39)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,940,887 (GRCm39)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,730,506 (GRCm39)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,167,105 (GRCm39)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,437,440 (GRCm39)	W335R	probably benign	Het
Ddr2	T	A	1: 169,832,671 (GRCm39)	I130F	probably benign	Het
Dnah2	C	T	11: 69,391,665 (GRCm39)	A677T	probably benign	Het
Dzip3	C	A	16: 48,772,205 (GRCm39)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,040,763 (GRCm39)	I637S	probably damaging	Het
Etv3	A	G	3: 87,436,671 (GRCm39)	D142G	probably benign	Het
Fabp5	C	T	3: 10,081,149 (GRCm39)	T126I	probably benign	Het
Fam13b	A	C	18: 34,627,827 (GRCm39)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,822,471 (GRCm39)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,674,905 (GRCm39)	F199S	possibly damaging	Het
Gm5493	A	G	17: 22,967,034 (GRCm39)	K57E	probably benign	Het
Gm7334	A	G	17: 51,006,265 (GRCm39)	M184V	probably benign	Het
Gm9894	T	C	13: 67,911,954 (GRCm39)		noncoding transcript	Het
Gpd2	T	A	2: 57,254,525 (GRCm39)	N674K	probably benign	Het
H2-M10.6	A	G	17: 37,123,959 (GRCm39)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,931,110 (GRCm39)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,029,118 (GRCm39)	T57A	probably benign	Het
Hrg	A	T	16: 22,773,268 (GRCm39)	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 93,864,322 (GRCm39)	T262A	probably damaging	Het
Irak3	G	T	10: 119,979,042 (GRCm39)	P470T	probably damaging	Het
Itgbl1	A	T	14: 124,083,977 (GRCm39)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,863 (GRCm39)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,272,589 (GRCm39)	M1157K	probably damaging	Het
Lcor	G	A	19: 41,571,986 (GRCm39)	G247D	possibly damaging	Het
Mdc1	G	A	17: 36,159,525 (GRCm39)	G635D	probably benign	Het
Mdc1	A	G	17: 36,168,464 (GRCm39)	K1690R	probably benign	Het
Mpp3	A	T	11: 101,909,365 (GRCm39)		probably benign	Het
Ncor2	G	T	5: 125,097,075 (GRCm39)	H2285N	probably benign	Het
Neb	T	A	2: 52,147,839 (GRCm39)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,161,483 (GRCm39)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,084,150 (GRCm39)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,437,355 (GRCm39)	Q191P	probably damaging	Het
Or14j10	A	T	17: 37,934,858 (GRCm39)	S223T	possibly damaging	Het
Or1e30	C	T	11: 73,678,378 (GRCm39)	L205F	probably benign	Het
Patl1	T	G	19: 11,914,718 (GRCm39)	L623R	probably damaging	Het
Pdc	T	C	1: 150,209,117 (GRCm39)	I200T	probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Pglyrp3	A	T	3: 91,938,841 (GRCm39)	I339F	probably damaging	Het
Plxnb1	T	C	9: 108,945,679 (GRCm39)	V2070A	probably damaging	Het
Poln	G	A	5: 34,266,775 (GRCm39)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,567,491 (GRCm39)	V218L	probably damaging	Het
Pygl	T	C	12: 70,263,428 (GRCm39)	D55G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsrp1	T	C	4: 134,651,692 (GRCm39)	F152S	probably damaging	Het
Sim2	T	C	16: 93,898,110 (GRCm39)	S115P	probably damaging	Het
Slc17a1	T	A	13: 24,059,593 (GRCm39)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,189,054 (GRCm39)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,500,342 (GRCm39)	N69K	probably benign	Het
Slc51a	T	G	16: 32,298,584 (GRCm39)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,278,261 (GRCm39)	H448R	probably benign	Het
Smc3	G	A	19: 53,613,594 (GRCm39)		probably null	Het
Sox6	A	T	7: 115,085,863 (GRCm39)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tsr1	C	T	11: 74,791,119 (GRCm39)		probably null	Het
Ttc12	T	C	9: 49,354,422 (GRCm39)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,452,768 (GRCm39)	V386E	probably benign	Het
Ush2a	T	A	1: 188,460,293 (GRCm39)		probably null	Het
Usp5	C	A	6: 124,794,576 (GRCm39)		probably benign	Het
Vmn1r216	T	C	13: 23,284,105 (GRCm39)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,655,606 (GRCm39)	L606*	probably null	Het
Wee2	T	A	6: 40,426,554 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,519,159 (GRCm39)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,523,594 (GRCm39)	P120L	probably benign	Het
Zscan4-ps3	T	C	7: 11,344,228 (GRCm39)	F62S	probably damaging	Het

Other mutations in Or51ag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Or51ag1	APN	7	103,156,003 (GRCm39)	missense	possibly damaging	0.67
IGL02179:Or51ag1	APN	7	103,155,934 (GRCm39)	missense	probably damaging	1.00
IGL02303:Or51ag1	APN	7	103,155,295 (GRCm39)	missense	probably benign	0.05
IGL02507:Or51ag1	APN	7	103,155,925 (GRCm39)	nonsense	probably null
IGL02562:Or51ag1	APN	7	103,155,423 (GRCm39)	nonsense	probably null
IGL02806:Or51ag1	APN	7	103,155,210 (GRCm39)	missense	probably benign	0.10
R0743:Or51ag1	UTSW	7	103,156,069 (GRCm39)	nonsense	probably null
R0884:Or51ag1	UTSW	7	103,156,069 (GRCm39)	nonsense	probably null
R1673:Or51ag1	UTSW	7	103,155,896 (GRCm39)	missense	probably damaging	0.99
R1752:Or51ag1	UTSW	7	103,155,765 (GRCm39)	missense	probably benign	0.02
R1800:Or51ag1	UTSW	7	103,155,248 (GRCm39)	missense	possibly damaging	0.89
R2043:Or51ag1	UTSW	7	103,156,150 (GRCm39)	start codon destroyed	probably null	0.98
R2254:Or51ag1	UTSW	7	103,155,271 (GRCm39)	missense	probably damaging	1.00
R2566:Or51ag1	UTSW	7	103,155,367 (GRCm39)	missense	probably benign	0.08
R4433:Or51ag1	UTSW	7	103,155,346 (GRCm39)	missense	probably benign	0.04
R5206:Or51ag1	UTSW	7	103,155,309 (GRCm39)	nonsense	probably null
R5470:Or51ag1	UTSW	7	103,155,716 (GRCm39)	missense	probably benign	0.00
R6848:Or51ag1	UTSW	7	103,155,664 (GRCm39)	missense	possibly damaging	0.50
R7222:Or51ag1	UTSW	7	103,155,664 (GRCm39)	missense	possibly damaging	0.50
R7832:Or51ag1	UTSW	7	103,155,586 (GRCm39)	missense	probably damaging	1.00
R7837:Or51ag1	UTSW	7	103,156,052 (GRCm39)	missense	possibly damaging	0.80
R7893:Or51ag1	UTSW	7	103,155,817 (GRCm39)	missense	possibly damaging	0.86
R9293:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9335:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9567:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9615:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9653:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACGCAAAGGCTCTCTGATGG -3'
(R):5'- TTCTGAGGCATCCCCTTACCAG -3'

Sequencing Primer
(F):5'- AACGGCTGACTCGATGACTG -3'
(R):5'- GAGGCATCCCCTTACCAGTGTTATG -3'

Posted On

2017-06-26