Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Or8g21'

38139

Institutional Source

Beutler Lab

Gene Symbol

Or8g21

Ensembl Gene

ENSMUSG00000059595

Gene Name

olfactory receptor family 8 subfamily G member 21

Synonyms

MOR171-11, GA_x6K02T2PVTD-32691280-32690354, Olfr935

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38905803-38906729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38906494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 79 (P79Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149193 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080748] [ENSMUST00000214157]

AlphaFold

Q8VG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000080748
AA Change: P79Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079572
Gene: ENSMUSG00000059595
AA Change: P79Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4e-53	PFAM
Pfam:7tm_1	41	290	1.2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214157
AA Change: P79Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,376,360 (GRCm39)	H169L	probably benign	Het
9130230L23Rik	T	C	5: 66,147,699 (GRCm39)	D28G	unknown	Het
Abca12	T	A	1: 71,298,935 (GRCm39)		probably benign	Het
Acsl5	T	C	19: 55,282,143 (GRCm39)	V573A	probably damaging	Het
Agap1	A	G	1: 89,770,972 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,254,806 (GRCm39)		probably benign	Het
B430305J03Rik	T	A	3: 61,271,556 (GRCm39)		probably benign	Het
Brsk2	T	C	7: 141,552,290 (GRCm39)	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,449,043 (GRCm39)	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,551,591 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,414,078 (GRCm39)	V88A	probably benign	Het
Cnnm1	A	T	19: 43,456,803 (GRCm39)	H614L	probably damaging	Het
Col1a1	T	A	11: 94,832,195 (GRCm39)		probably benign	Het
Cyp1b1	T	A	17: 80,021,016 (GRCm39)	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,420,915 (GRCm39)	M1T	probably null	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dclk2	A	T	3: 86,721,054 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,972,904 (GRCm39)	S2010P	probably damaging	Het
Dram2	T	C	3: 106,480,934 (GRCm39)	L246P	probably damaging	Het
Dus2	A	T	8: 106,775,309 (GRCm39)	T279S	probably benign	Het
Epn2	T	C	11: 61,423,522 (GRCm39)		probably null	Het
Esco2	C	A	14: 66,069,155 (GRCm39)	V52F	possibly damaging	Het
Fbp1	T	A	13: 63,012,882 (GRCm39)	T104S	probably benign	Het
Foxj2	A	T	6: 122,810,767 (GRCm39)	Q249L	possibly damaging	Het
Galnt7	T	C	8: 58,037,023 (GRCm39)	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,340,588 (GRCm39)	Y35H	probably benign	Het
Gipc2	A	G	3: 151,871,305 (GRCm39)	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,734,139 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,290,141 (GRCm39)	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,130,434 (GRCm39)	K471R	probably damaging	Het
Ireb2	G	A	9: 54,803,782 (GRCm39)	R491H	probably benign	Het
Isg20	A	G	7: 78,566,473 (GRCm39)	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,749,243 (GRCm39)	R100H	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,719,940 (GRCm39)	F287V	probably benign	Het
Maco1	T	C	4: 134,555,427 (GRCm39)	K349E	probably benign	Het
Mmrn1	A	C	6: 60,954,099 (GRCm39)	K793N	probably benign	Het
Muc16	A	G	9: 18,421,830 (GRCm39)	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,083,424 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,528,372 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,951,373 (GRCm39)	V400A	probably damaging	Het
Nxph4	T	A	10: 127,362,127 (GRCm39)	T255S	possibly damaging	Het
Olfm5	G	A	7: 103,803,386 (GRCm39)	T359I	probably damaging	Het
Or1e33	T	C	11: 73,738,867 (GRCm39)	Y28C	probably benign	Het
Or5t18	A	G	2: 86,636,995 (GRCm39)	M116T	probably damaging	Het
Or8b44	A	G	9: 38,410,207 (GRCm39)	M81V	possibly damaging	Het
Pak5	T	C	2: 135,939,499 (GRCm39)	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,320,664 (GRCm39)	I1553N	probably benign	Het
Pink1	T	C	4: 138,045,229 (GRCm39)	T282A	probably damaging	Het
Prdm2	A	G	4: 142,838,240 (GRCm39)	F1706S	probably benign	Het
Pycr1	G	A	11: 120,532,352 (GRCm39)		probably benign	Het
Rigi	A	G	4: 40,235,257 (GRCm39)	Y78H	probably benign	Het
Skint9	A	G	4: 112,271,198 (GRCm39)	S71P	probably damaging	Het
Smad1	A	G	8: 80,098,399 (GRCm39)		probably benign	Het
Snapc5	A	T	9: 64,087,789 (GRCm39)	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,256,443 (GRCm39)	L56P	probably damaging	Het
Stab2	A	C	10: 86,708,474 (GRCm39)	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,870,888 (GRCm39)		probably benign	Het
Tph2	A	G	10: 114,916,025 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,594,077 (GRCm39)	V118A	probably benign	Het
Ttbk2	T	A	2: 120,580,723 (GRCm39)	T538S	probably benign	Het
Ttn	A	G	2: 76,545,616 (GRCm39)	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,867,166 (GRCm39)	Y158F	probably benign	Het
Usp7	A	T	16: 8,534,496 (GRCm39)		probably benign	Het
Vdr	A	G	15: 97,767,232 (GRCm39)	S179P	probably benign	Het
Vps13d	A	C	4: 144,792,397 (GRCm39)	S663A	probably benign	Het
Wdr62	T	A	7: 29,940,887 (GRCm39)	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,467,956 (GRCm39)	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,343,909 (GRCm39)	C439R	probably damaging	Het
Zfp507	T	A	7: 35,491,171 (GRCm39)	H704L	probably damaging	Het
Zzef1	G	A	11: 72,786,068 (GRCm39)	R2080K	probably damaging	Het

Other mutations in Or8g21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Or8g21	APN	9	38,906,396 (GRCm39)	missense	probably benign	0.08
IGL01671:Or8g21	APN	9	38,906,149 (GRCm39)	missense	probably benign	0.05
IGL02331:Or8g21	APN	9	38,906,402 (GRCm39)	missense	probably damaging	0.99
IGL03069:Or8g21	APN	9	38,906,728 (GRCm39)	start codon destroyed	probably null	0.98
IGL03143:Or8g21	APN	9	38,906,732 (GRCm39)	utr 5 prime	probably benign
R0149:Or8g21	UTSW	9	38,905,880 (GRCm39)	missense	probably benign	0.05
R1818:Or8g21	UTSW	9	38,905,902 (GRCm39)	missense	possibly damaging	0.61
R2092:Or8g21	UTSW	9	38,906,485 (GRCm39)	missense	probably damaging	1.00
R2151:Or8g21	UTSW	9	38,906,012 (GRCm39)	missense	probably damaging	1.00
R2166:Or8g21	UTSW	9	38,906,513 (GRCm39)	nonsense	probably null
R2347:Or8g21	UTSW	9	38,905,805 (GRCm39)	makesense	probably null
R4404:Or8g21	UTSW	9	38,905,865 (GRCm39)	missense	possibly damaging	0.77
R4406:Or8g21	UTSW	9	38,905,865 (GRCm39)	missense	possibly damaging	0.77
R5152:Or8g21	UTSW	9	38,906,473 (GRCm39)	missense	possibly damaging	0.88
R5467:Or8g21	UTSW	9	38,906,200 (GRCm39)	missense	probably benign	0.14
R5509:Or8g21	UTSW	9	38,905,924 (GRCm39)	missense	probably benign	0.03
R5954:Or8g21	UTSW	9	38,906,711 (GRCm39)	missense	probably damaging	1.00
R6647:Or8g21	UTSW	9	38,906,210 (GRCm39)	missense	possibly damaging	0.55
R6680:Or8g21	UTSW	9	38,905,954 (GRCm39)	missense	probably damaging	1.00
R6928:Or8g21	UTSW	9	38,905,928 (GRCm39)	missense	probably benign	0.03
R7242:Or8g21	UTSW	9	38,906,437 (GRCm39)	missense	probably benign	0.31
R7271:Or8g21	UTSW	9	38,905,953 (GRCm39)	nonsense	probably null
R7309:Or8g21	UTSW	9	38,906,576 (GRCm39)	missense	probably damaging	1.00
R7775:Or8g21	UTSW	9	38,906,203 (GRCm39)	missense	probably damaging	1.00
R7778:Or8g21	UTSW	9	38,906,203 (GRCm39)	missense	probably damaging	1.00
R7866:Or8g21	UTSW	9	38,906,027 (GRCm39)	missense	not run
R8280:Or8g21	UTSW	9	38,906,075 (GRCm39)	missense	probably benign
R8334:Or8g21	UTSW	9	38,905,889 (GRCm39)	missense	probably benign	0.00
R8841:Or8g21	UTSW	9	38,905,879 (GRCm39)	missense	possibly damaging	0.95
R9161:Or8g21	UTSW	9	38,905,816 (GRCm39)	missense	possibly damaging	0.70
R9169:Or8g21	UTSW	9	38,906,573 (GRCm39)	missense	probably benign	0.23
R9659:Or8g21	UTSW	9	38,906,296 (GRCm39)	missense	possibly damaging	0.64
R9739:Or8g21	UTSW	9	38,906,302 (GRCm39)	nonsense	probably null
R9788:Or8g21	UTSW	9	38,906,296 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TCTGCCCTCAGTGGATTTAATGCG -3'
(R):5'- CTTCCTCTCTGGCTTAACAGAACAACC -3'

Sequencing Primer
(F):5'- TGAGCTGATGCACAAACTATGC -3'
(R):5'- TGGCTTAACAGAACAACCAGAAC -3'

Posted On

2013-05-23