Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Or5au1'

399820

Institutional Source

Beutler Lab

Gene Symbol

Or5au1

Ensembl Gene

ENSMUSG00000044286

Gene Name

olfactory receptor family 5 subfamily AU member 1

Synonyms

MOR205-1, GA_x6K02T2RJGY-959918-960853, GA_x6K02SYYB8M-929-258, Olfr221, MOR205-2, Olfr1514

MMRRC Submission

042855-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52272631-52273566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52273341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000151163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052560] [ENSMUST00000214071] [ENSMUST00000214342] [ENSMUST00000216188] [ENSMUST00000216907]

AlphaFold

B2RVX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052560
AA Change: T76A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063109
Gene: ENSMUSG00000044286
AA Change: T76A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.5e-51	PFAM
Pfam:7tm_1	41	290	3.1e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214071
AA Change: T76A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214342
AA Change: T76A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216188
AA Change: T76A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216907
AA Change: T76A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.3775

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Astn1	A	G	1: 158,440,102 (GRCm39)	K890R	probably damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cep43	T	C	17: 8,391,775 (GRCm39)	S152P	probably benign	Het
Chsy3	A	G	18: 59,542,866 (GRCm39)	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,008,348 (GRCm39)	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,444,493 (GRCm39)	P200H	probably damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,453,988 (GRCm39)	D31G	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gdf3	T	C	6: 122,583,345 (GRCm39)	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942 (GRCm38)	L199S	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Ipo9	A	T	1: 135,313,173 (GRCm39)	C1019S	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,904,820 (GRCm39)	H199Q	probably benign	Het
Kyat3	A	G	3: 142,440,337 (GRCm39)	M354V	probably benign	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mslnl	T	C	17: 25,965,139 (GRCm39)	Y502H	probably benign	Het
Nckap5	A	G	1: 125,952,245 (GRCm39)	S1372P	probably damaging	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Padi4	C	T	4: 140,473,515 (GRCm39)	V641M	probably benign	Het
Phf11d	T	C	14: 59,590,160 (GRCm39)	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,458,856 (GRCm39)		probably benign	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sardh	T	C	2: 27,134,271 (GRCm39)	T82A	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Setd4	T	C	16: 93,393,221 (GRCm39)	T57A	probably damaging	Het
Skint5	T	C	4: 113,434,859 (GRCm39)	T1037A	unknown	Het
Slc18a3	T	C	14: 32,185,777 (GRCm39)	D202G	probably damaging	Het
Slc44a5	G	A	3: 153,948,760 (GRCm39)	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,579,740 (GRCm39)	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,422,483 (GRCm39)	I523V	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Ttc6	A	T	12: 57,749,061 (GRCm39)	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,014,149 (GRCm39)	S149P	probably benign	Het
Zfp521	G	A	18: 13,980,035 (GRCm39)	S126F	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	Het

Other mutations in Or5au1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02559:Or5au1	APN	14	52,273,464 (GRCm39)	missense	probably damaging	1.00
G4846:Or5au1	UTSW	14	52,273,434 (GRCm39)	missense	probably benign	0.00
R0077:Or5au1	UTSW	14	52,273,442 (GRCm39)	missense	possibly damaging	0.94
R4762:Or5au1	UTSW	14	52,272,921 (GRCm39)	missense	possibly damaging	0.85
R5209:Or5au1	UTSW	14	52,273,410 (GRCm39)	missense	probably benign
R6225:Or5au1	UTSW	14	52,272,825 (GRCm39)	missense	possibly damaging	0.55
R6492:Or5au1	UTSW	14	52,272,902 (GRCm39)	missense	probably benign	0.01
R7412:Or5au1	UTSW	14	52,273,310 (GRCm39)	nonsense	probably null
R7888:Or5au1	UTSW	14	52,273,347 (GRCm39)	missense	probably damaging	1.00
R7935:Or5au1	UTSW	14	52,272,645 (GRCm39)	missense	probably benign	0.12
R9651:Or5au1	UTSW	14	52,273,205 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGGCACAGACATTG -3'
(R):5'- GTTTGAACTCTTGGGCCTCACC -3'

Sequencing Primer
(F):5'- CATTGGGAGACACTATGGTCG -3'
(R):5'- TCTTGGGCCTCACCAGTGAC -3'

Posted On

2016-07-06