Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Or5ac22'

582180

Institutional Source

Beutler Lab

Gene Symbol

Or5ac22

Ensembl Gene

ENSMUSG00000095928

Gene Name

olfactory receptor family 5 subfamily AC member 22

Synonyms

Olfr204, MOR182-3, GA_x54KRFPKG5P-55529713-55528796

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59134851-59135768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59135390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 127 (N127Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000216261]

AlphaFold

E9Q8M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000072517
AA Change: N127Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: N127Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	1.5e-49	PFAM
Pfam:7TM_GPCR_Srsx	34	299	2.3e-9	PFAM
Pfam:7tm_1	40	289	3.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216261
AA Change: N127Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.3762

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,730,031 (GRCm39)	S303T	possibly damaging	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm39)	V412L	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Impdh1	T	C	6: 29,207,168 (GRCm39)	I59V	probably benign	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Mtmr14	C	T	6: 113,245,652 (GRCm39)	Q409*	probably null	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,122,253 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,233,323 (GRCm39)		probably null	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Or5ac22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Or5ac22	APN	16	59,134,891 (GRCm39)	missense	probably damaging	1.00
IGL01915:Or5ac22	APN	16	59,135,473 (GRCm39)	missense	probably damaging	1.00
R0265:Or5ac22	UTSW	16	59,135,434 (GRCm39)	missense	probably damaging	1.00
R0532:Or5ac22	UTSW	16	59,134,964 (GRCm39)	missense	probably benign	0.00
R1719:Or5ac22	UTSW	16	59,135,069 (GRCm39)	nonsense	probably null
R1864:Or5ac22	UTSW	16	59,135,378 (GRCm39)	missense	probably damaging	1.00
R1889:Or5ac22	UTSW	16	59,135,326 (GRCm39)	missense	probably damaging	0.98
R1925:Or5ac22	UTSW	16	59,135,027 (GRCm39)	missense	probably damaging	1.00
R2973:Or5ac22	UTSW	16	59,135,767 (GRCm39)	start codon destroyed	probably null	1.00
R3078:Or5ac22	UTSW	16	59,135,089 (GRCm39)	missense	probably benign
R3819:Or5ac22	UTSW	16	59,135,434 (GRCm39)	missense	probably damaging	1.00
R4036:Or5ac22	UTSW	16	59,135,113 (GRCm39)	missense	probably benign
R4698:Or5ac22	UTSW	16	59,135,720 (GRCm39)	missense	probably damaging	1.00
R4930:Or5ac22	UTSW	16	59,135,236 (GRCm39)	missense	probably damaging	1.00
R5457:Or5ac22	UTSW	16	59,135,213 (GRCm39)	missense	probably benign	0.12
R6597:Or5ac22	UTSW	16	59,135,713 (GRCm39)	missense	probably benign	0.00
R7341:Or5ac22	UTSW	16	59,135,512 (GRCm39)	missense	possibly damaging	0.69
R7702:Or5ac22	UTSW	16	59,134,997 (GRCm39)	missense	probably damaging	1.00
R8132:Or5ac22	UTSW	16	59,134,907 (GRCm39)	missense	possibly damaging	0.55
R9642:Or5ac22	UTSW	16	59,135,610 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GCCACCAATCCATTAAGAGATG -3'
(R):5'- AATTTGGCCTTTGCTGATGCC -3'

Sequencing Primer
(F):5'- TGGATCTGTGCAAGAAATCGC -3'
(R):5'- TTGCTGATGCCTGCACG -3'

Posted On

2019-10-17