Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Or5a1'

562069

Institutional Source

Beutler Lab

Gene Symbol

Or5a1

Ensembl Gene

ENSMUSG00000067522

Gene Name

olfactory receptor family 5 subfamily A member 1

Synonyms

GA_x6K02T2RE5P-2479601-2478648, V5, Olfr76, MOR215-3

MMRRC Submission

045296-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12097085-12098038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12097912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 55 (T55A)

Ref Sequence

ENSEMBL: ENSMUSP00000154269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087822] [ENSMUST00000208391] [ENSMUST00000213471] [ENSMUST00000214103] [ENSMUST00000214676]

AlphaFold

A0A2I3BR00

Predicted Effect

probably benign
Transcript: ENSMUST00000087822
AA Change: T43A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: T43A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.2e-54	PFAM
Pfam:7tm_1	44	293	5.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208391

Predicted Effect

probably benign
Transcript: ENSMUST00000213471
AA Change: T55A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214103

Predicted Effect

probably benign
Transcript: ENSMUST00000214676
AA Change: T43A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,943,275 (GRCm39)	T60M	probably benign	Het
Actn4	C	T	7: 28,661,509 (GRCm39)	A34T	probably benign	Het
Acvrl1	A	G	15: 101,041,245 (GRCm39)	M466V	probably benign	Het
Adamts7	T	C	9: 90,067,868 (GRCm39)	Y453H	probably damaging	Het
Amfr	G	A	8: 94,711,484 (GRCm39)	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,516,688 (GRCm39)	T492M	probably benign	Het
Anxa6	A	G	11: 54,876,993 (GRCm39)	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,318,384 (GRCm39)	Y394D	unknown	Het
Atic	G	A	1: 71,610,014 (GRCm39)	V342I	probably benign	Het
Atl1	C	A	12: 70,002,127 (GRCm39)	T362N	probably benign	Het
Atp10a	A	T	7: 58,447,219 (GRCm39)	M654L	probably benign	Het
B3gnt5	A	T	16: 19,588,503 (GRCm39)	M241L	probably benign	Het
Bbs7	A	G	3: 36,659,877 (GRCm39)	V186A	possibly damaging	Het
Brme1	A	G	8: 84,898,842 (GRCm39)	T577A	probably benign	Het
C8b	T	C	4: 104,637,795 (GRCm39)	L89P	probably damaging	Het
Capn7	G	T	14: 31,092,678 (GRCm39)	E742*	probably null	Het
Ccdc162	G	A	10: 41,437,187 (GRCm39)	R1741C	probably damaging	Het
Cdhr17	T	C	5: 17,041,592 (GRCm39)	V615A	possibly damaging	Het
Chsy3	T	A	18: 59,542,047 (GRCm39)	L395H	probably damaging	Het
Cnot9	A	G	1: 74,556,388 (GRCm39)	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp2d12	T	A	15: 82,441,849 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,436,420 (GRCm39)	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,584,196 (GRCm39)	G533D	possibly damaging	Het
Eddm13	T	G	7: 6,271,801 (GRCm39)	M77R	probably benign	Het
Elfn1	A	G	5: 139,958,228 (GRCm39)	S411G	probably benign	Het
Enpp3	T	C	10: 24,652,782 (GRCm39)	D725G	possibly damaging	Het
Fmnl1	T	C	11: 103,073,595 (GRCm39)		probably null	Het
Fndc8	T	C	11: 82,783,151 (GRCm39)	M44T	probably benign	Het
Gcgr	A	T	11: 120,425,538 (GRCm39)		probably benign	Het
Ggt1	T	A	10: 75,410,110 (GRCm39)	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,331,447 (GRCm39)	I198M	unknown	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm6034	T	A	17: 36,367,331 (GRCm39)	S59T	unknown	Het
Gm6408	G	A	5: 146,421,180 (GRCm39)	V270I	probably benign	Het
Gpr20	A	T	15: 73,567,981 (GRCm39)	I136N	probably damaging	Het
Ide	T	C	19: 37,268,160 (GRCm39)	E565G		Het
Igsf9	T	C	1: 172,322,349 (GRCm39)	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,590,965 (GRCm39)	R416*	probably null	Het
Kcnd3	A	T	3: 105,576,400 (GRCm39)	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,756,805 (GRCm39)	M265L	probably benign	Het
Klhdc1	G	A	12: 69,309,923 (GRCm39)	S275N	probably damaging	Het
Ldc1	C	G	4: 130,112,992 (GRCm39)	A135P	probably damaging	Het
Lrba	A	C	3: 86,302,553 (GRCm39)	N1871T	probably damaging	Het
Lrrk1	A	G	7: 65,982,134 (GRCm39)	V169A	probably damaging	Het
Magi1	A	G	6: 93,660,070 (GRCm39)	I1175T	probably benign	Het
Man1a2	T	C	3: 100,489,369 (GRCm39)	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,459,209 (GRCm39)	N129S	probably damaging	Het
Mup5	G	A	4: 61,750,622 (GRCm39)	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,488,877 (GRCm39)	R216C	probably damaging	Het
Neb	T	C	2: 52,224,671 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or52m2	A	T	7: 102,263,974 (GRCm39)	M74K	probably damaging	Het
Or8b12b	G	A	9: 37,684,711 (GRCm39)	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,110,872 (GRCm39)	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,511 (GRCm39)	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,895,241 (GRCm39)	L623P		Het
Plxdc1	T	C	11: 97,823,153 (GRCm39)	T363A	possibly damaging	Het
Pole3	T	C	4: 62,442,287 (GRCm39)	D111G	unknown	Het
R3hdm2	T	A	10: 127,294,022 (GRCm39)	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Rcbtb1	C	G	14: 59,465,828 (GRCm39)	I390M	probably damaging	Het
Romo1	G	A	2: 155,986,295 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,335,519 (GRCm39)	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,224,724 (GRCm39)	T327A	probably benign	Het
Slc30a5	A	G	13: 100,945,762 (GRCm39)	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,473,044 (GRCm39)	E43K	probably benign	Het
Slc38a2	A	C	15: 96,589,240 (GRCm39)	L418W	probably damaging	Het
Snx14	T	C	9: 88,276,614 (GRCm39)	E557G	possibly damaging	Het
Spata33	T	A	8: 123,948,737 (GRCm39)	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,714,839 (GRCm39)	H170L	probably damaging	Het
Trpm1	A	G	7: 63,868,854 (GRCm39)		probably null	Het
Tsr3	A	T	17: 25,461,569 (GRCm39)	E302D	probably benign	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Usp2	C	T	9: 43,987,266 (GRCm39)	T188M	possibly damaging	Het
Usp44	A	G	10: 93,681,855 (GRCm39)	I102V	probably benign	Het
Wasf1	A	G	10: 40,802,546 (GRCm39)	N67S	probably benign	Het
Zfp445	T	C	9: 122,681,208 (GRCm39)	N911S	probably benign	Het
Zfp467	A	G	6: 48,421,903 (GRCm39)		probably null	Het

Other mutations in Or5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or5a1	APN	19	12,097,240 (GRCm39)	missense	probably damaging	1.00
IGL01693:Or5a1	APN	19	12,097,921 (GRCm39)	missense	probably benign
R0360:Or5a1	UTSW	19	12,097,217 (GRCm39)	missense	possibly damaging	0.84
R0399:Or5a1	UTSW	19	12,097,734 (GRCm39)	missense	possibly damaging	0.67
R0467:Or5a1	UTSW	19	12,097,900 (GRCm39)	missense	probably benign	0.01
R0750:Or5a1	UTSW	19	12,098,077 (GRCm39)	splice site	probably null
R1432:Or5a1	UTSW	19	12,097,603 (GRCm39)	missense	possibly damaging	0.56
R1535:Or5a1	UTSW	19	12,097,696 (GRCm39)	missense	probably damaging	1.00
R4739:Or5a1	UTSW	19	12,097,234 (GRCm39)	missense	possibly damaging	0.65
R4767:Or5a1	UTSW	19	12,097,300 (GRCm39)	missense	probably damaging	1.00
R5032:Or5a1	UTSW	19	12,097,420 (GRCm39)	missense	probably benign	0.00
R5367:Or5a1	UTSW	19	12,097,800 (GRCm39)	missense	possibly damaging	0.90
R6363:Or5a1	UTSW	19	12,097,530 (GRCm39)	missense	possibly damaging	0.60
R6426:Or5a1	UTSW	19	12,097,212 (GRCm39)	missense	probably benign	0.04
R7162:Or5a1	UTSW	19	12,097,501 (GRCm39)	missense	possibly damaging	0.60
R7565:Or5a1	UTSW	19	12,097,375 (GRCm39)	missense	probably benign	0.01
R7739:Or5a1	UTSW	19	12,097,909 (GRCm39)	missense	probably damaging	1.00
R7863:Or5a1	UTSW	19	12,097,974 (GRCm39)	missense	possibly damaging	0.77
R8387:Or5a1	UTSW	19	12,097,785 (GRCm39)	missense	probably damaging	1.00
R8440:Or5a1	UTSW	19	12,097,308 (GRCm39)	missense	probably damaging	1.00
R8672:Or5a1	UTSW	19	12,097,921 (GRCm39)	missense	probably benign	0.04
R8736:Or5a1	UTSW	19	12,097,309 (GRCm39)	missense	probably damaging	1.00
R8790:Or5a1	UTSW	19	12,097,906 (GRCm39)	missense	probably damaging	1.00
R9314:Or5a1	UTSW	19	12,097,144 (GRCm39)	missense	probably benign	0.40
R9573:Or5a1	UTSW	19	12,097,509 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCACATCCCAGGAATGAGATAG -3'
(R):5'- TGCAGCTGTTCATGCATGTG -3'

Sequencing Primer
(F):5'- CCCAGGAATGAGATAGTCTTTTGCTC -3'
(R):5'- GCATGTGTAACTACTTGTCCATAGC -3'

Posted On

2019-06-26