Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Or5ak20'

370525

Institutional Source

Beutler Lab

Gene Symbol

Or5ak20

Ensembl Gene

ENSMUSG00000075222

Gene Name

olfactory receptor family 5 subfamily AK member 20

Synonyms

MOR203-5P, GA_x6K02T2Q125-46830591-46829662, Olfr988

MMRRC Submission

041998-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85183339-85184268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85183425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 282 (I282V)

Ref Sequence

ENSEMBL: ENSMUSP00000151211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099928] [ENSMUST00000111597] [ENSMUST00000215511]

AlphaFold

Q7TRA1

Predicted Effect

probably benign
Transcript: ENSMUST00000099928
AA Change: I282V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097512
Gene: ENSMUSG00000075222
AA Change: I282V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	284	1.5e-6	PFAM
Pfam:7tm_1	41	290	3.8e-31	PFAM
Pfam:7tm_4	139	283	3.7e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111597
AA Change: I282V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107224
Gene: ENSMUSG00000075222
AA Change: I282V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.1e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	284	1.5e-6	PFAM
Pfam:7tm_1	41	290	7.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215511
AA Change: I282V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apbb1ip	T	C	2: 22,713,610 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,233,209 (GRCm39)	K236E	probably damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Rnf111	A	T	9: 70,338,239 (GRCm39)	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,362,303 (GRCm39)		probably null	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882 (GRCm39)	N162S	probably benign	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,814,502 (GRCm39)	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	probably damaging	Het

Other mutations in Or5ak20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Or5ak20	APN	2	85,184,006 (GRCm39)	missense	probably benign	0.01
IGL02651:Or5ak20	APN	2	85,183,394 (GRCm39)	missense	probably damaging	1.00
R0505:Or5ak20	UTSW	2	85,184,093 (GRCm39)	missense	possibly damaging	0.87
R1574:Or5ak20	UTSW	2	85,184,243 (GRCm39)	missense	probably damaging	0.97
R1574:Or5ak20	UTSW	2	85,184,243 (GRCm39)	missense	probably damaging	0.97
R1632:Or5ak20	UTSW	2	85,183,586 (GRCm39)	missense	possibly damaging	0.78
R2187:Or5ak20	UTSW	2	85,184,259 (GRCm39)	missense	probably benign
R2251:Or5ak20	UTSW	2	85,184,202 (GRCm39)	missense	possibly damaging	0.87
R2252:Or5ak20	UTSW	2	85,184,202 (GRCm39)	missense	possibly damaging	0.87
R2253:Or5ak20	UTSW	2	85,184,202 (GRCm39)	missense	possibly damaging	0.87
R3522:Or5ak20	UTSW	2	85,183,347 (GRCm39)	missense	probably benign	0.06
R4855:Or5ak20	UTSW	2	85,183,793 (GRCm39)	missense	possibly damaging	0.89
R4895:Or5ak20	UTSW	2	85,183,341 (GRCm39)	makesense	probably null
R4918:Or5ak20	UTSW	2	85,183,632 (GRCm39)	missense	probably benign	0.39
R5171:Or5ak20	UTSW	2	85,184,114 (GRCm39)	missense	probably benign	0.11
R5208:Or5ak20	UTSW	2	85,184,142 (GRCm39)	missense	probably benign	0.07
R5938:Or5ak20	UTSW	2	85,183,620 (GRCm39)	missense	probably damaging	1.00
R6088:Or5ak20	UTSW	2	85,183,698 (GRCm39)	missense	probably damaging	0.99
R7213:Or5ak20	UTSW	2	85,183,900 (GRCm39)	nonsense	probably null
R8679:Or5ak20	UTSW	2	85,183,953 (GRCm39)	missense	probably benign	0.01
R8803:Or5ak20	UTSW	2	85,184,078 (GRCm39)	missense	probably damaging	1.00
R9093:Or5ak20	UTSW	2	85,183,852 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGTGCCATTCAATATGTGCCTTG -3'
(R):5'- ACCTAGTGAGCACTGTACTTG -3'

Sequencing Primer
(F):5'- GCCATTCAATATGTGCCTTGATATC -3'
(R):5'- ACCTAGTGAGCACTGTACTTGTTGTC -3'

Posted On

2016-02-04