Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Or5an1'

562128

Institutional Source

Beutler Lab

Gene Symbol

Or5an1

Ensembl Gene

ENSMUSG00000095640

Gene Name

olfactory receptor family 5 subfamily AN member 1

Synonyms

GA_x6K02T2RE5P-2610001-2610414, Olfr1433, MOR214-4, GA_x6K02T2RE5P-2618516-2619454, Olfr1434, MOR214-4

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12257218-12261352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12260831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 140 (T140S)

Ref Sequence

ENSEMBL: ENSMUSP00000146925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]

AlphaFold

Q7TQR9

Predicted Effect

probably benign
Transcript: ENSMUST00000207186
AA Change: T140S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207915

Predicted Effect

probably benign
Transcript: ENSMUST00000208197
AA Change: T140S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,299 (GRCm39)		probably benign	Het
5730480H06Rik	T	A	5: 48,537,575 (GRCm39)		probably null	Het
Actn4	A	T	7: 28,598,124 (GRCm39)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,438,270 (GRCm39)	E1041G	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cd22	C	T	7: 30,577,059 (GRCm39)	A83T	not run	Het
Cdan1	T	C	2: 120,555,393 (GRCm39)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,159 (GRCm39)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,740,236 (GRCm39)	F2282S	unknown	Het
Chst9	T	C	18: 15,585,718 (GRCm39)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,270,396 (GRCm39)	D232N	probably damaging	Het
Clpb	T	A	7: 101,360,672 (GRCm39)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,557,232 (GRCm39)		probably null	Het
Cnp	C	T	11: 100,471,413 (GRCm39)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Dtx3	C	T	10: 127,027,358 (GRCm39)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm39)	I1156T	probably benign	Het
Epg5	T	A	18: 78,055,917 (GRCm39)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,390,058 (GRCm39)	D211G	probably benign	Het
Fank1	A	G	7: 133,454,988 (GRCm39)	K36R	probably benign	Het
Fat4	T	C	3: 39,034,325 (GRCm39)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,460,033 (GRCm39)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,514,391 (GRCm39)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,789,710 (GRCm39)	V528G	probably damaging	Het
Gria2	T	A	3: 80,709,938 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,604 (GRCm39)	E150G	possibly damaging	Het
Jak3	C	A	8: 72,138,155 (GRCm39)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,061,844 (GRCm39)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,225,694 (GRCm39)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,604,111 (GRCm39)	V88A	probably benign	Het
Lmod3	T	A	6: 97,224,345 (GRCm39)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,829,718 (GRCm39)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,455,558 (GRCm39)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,643,482 (GRCm39)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,212,966 (GRCm39)	D346E	probably benign	Het
Obi1	T	C	14: 104,717,294 (GRCm39)	T360A	probably benign	Het
Opa1	A	G	16: 29,432,857 (GRCm39)		probably null	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Paxbp1	T	C	16: 90,823,956 (GRCm39)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,577,490 (GRCm39)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,410,337 (GRCm39)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,593,541 (GRCm39)	T58A	possibly damaging	Het
Por	A	G	5: 135,761,441 (GRCm39)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,515,353 (GRCm39)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,511,927 (GRCm39)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,928 (GRCm39)	G1006E	possibly damaging	Het
Rpl12	C	T	2: 32,851,909 (GRCm39)		probably benign	Het
Rpsa	T	G	9: 119,960,222 (GRCm39)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,255,828 (GRCm39)	N991K	probably damaging	Het
Shank2	T	A	7: 143,838,762 (GRCm39)	N19K	probably benign	Het
Sik1	T	C	17: 32,073,274 (GRCm39)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,098,853 (GRCm39)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,458,315 (GRCm39)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,912,081 (GRCm39)		probably benign	Het
Sox13	A	T	1: 133,314,862 (GRCm39)	V266E	probably benign	Het
Spag9	T	C	11: 93,988,184 (GRCm39)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,961,520 (GRCm39)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,244,821 (GRCm39)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,469,082 (GRCm39)	N357S	probably damaging	Het
Txk	C	T	5: 72,858,057 (GRCm39)	D418N	probably damaging	Het
Ube2j2	A	G	4: 156,033,773 (GRCm39)		probably null	Het
Vmn2r84	G	A	10: 130,222,552 (GRCm39)	P556L	probably damaging	Het
Zfp1007	T	C	5: 109,825,015 (GRCm39)	H145R	possibly damaging	Het
Zfp442	T	C	2: 150,250,925 (GRCm39)	N326D	probably benign	Het

Other mutations in Or5an1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Or5an1	APN	19	12,261,069 (GRCm39)	missense	probably damaging	1.00
IGL02415:Or5an1	APN	19	12,260,862 (GRCm39)	missense	probably benign	0.44
IGL02731:Or5an1	APN	19	12,261,206 (GRCm39)	missense	probably damaging	0.99
IGL02803:Or5an1	APN	19	12,261,347 (GRCm39)	missense	possibly damaging	0.94
IGL03050:Or5an1	UTSW	19	12,260,876 (GRCm39)	missense	probably benign
R0432:Or5an1	UTSW	19	12,261,267 (GRCm39)	missense	probably damaging	1.00
R2209:Or5an1	UTSW	19	12,261,224 (GRCm39)	missense	probably benign	0.41
R3710:Or5an1	UTSW	19	12,260,450 (GRCm39)	missense	probably damaging	1.00
R4724:Or5an1	UTSW	19	12,260,460 (GRCm39)	missense	probably damaging	1.00
R5133:Or5an1	UTSW	19	12,260,670 (GRCm39)	missense	possibly damaging	0.96
R5974:Or5an1	UTSW	19	12,261,200 (GRCm39)	missense	probably damaging	1.00
R6544:Or5an1	UTSW	19	12,260,519 (GRCm39)	missense	probably damaging	1.00
R7320:Or5an1	UTSW	19	12,261,180 (GRCm39)	missense	possibly damaging	0.72
R7467:Or5an1	UTSW	19	12,260,839 (GRCm39)	nonsense	probably null
R7900:Or5an1	UTSW	19	12,260,705 (GRCm39)	missense	probably damaging	1.00
R8719:Or5an1	UTSW	19	12,260,792 (GRCm39)	missense	probably benign	0.13
R9135:Or5an1	UTSW	19	12,260,808 (GRCm39)	missense	probably damaging	1.00
R9324:Or5an1	UTSW	19	12,260,939 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- ACAGTCCCAAAGATGCTTTCC -3'
(R):5'- TGGCTAAGGCGTTTATAAGCCC -3'

Sequencing Primer
(F):5'- AAAGATGCTTTCCAACCTCTTCCAG -3'
(R):5'- GTTAATATGACAAGTAGGACATGTGC -3'

Posted On

2019-06-26