Mutagenetix > Incidental Mutation

Incidental Mutation 'R0077:Or2a56'

19473

Institutional Source

Beutler Lab

Gene Symbol

Or2a56

Ensembl Gene

ENSMUSG00000073110

Gene Name

olfactory receptor family 2 subfamily A member 56

Synonyms

Olfr444, MOR261-2, GA_x6K02T2P3E9-4602571-4601639

MMRRC Submission

038364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42932434-42933366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42932707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 92 (S92P)

Ref Sequence

ENSEMBL: ENSMUSP00000144691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095955] [ENSMUST00000204092]

AlphaFold

Q8VFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000095955
AA Change: S92P

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093649
Gene: ENSMUSG00000073110
AA Change: S92P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1e-60	PFAM
Pfam:7tm_1	40	289	6.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204092
AA Change: S92P

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: S92P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.6e-60	PFAM
Pfam:7tm_1	40	289	3.5e-26	PFAM

Meta Mutation Damage Score

0.5647

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,919,532 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,223,418 (GRCm39)	I624V	probably damaging	Het
AI661453	A	G	17: 47,780,287 (GRCm39)		probably benign	Het
Alg12	C	T	15: 88,700,181 (GRCm39)	E60K	probably damaging	Het
Angel2	A	T	1: 190,665,284 (GRCm39)	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,630,183 (GRCm39)	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Bpi	T	A	2: 158,103,254 (GRCm39)	M83K	probably damaging	Het
Capn7	A	G	14: 31,090,072 (GRCm39)	I642V	probably benign	Het
Ccdc134	T	C	15: 82,015,938 (GRCm39)		probably benign	Het
Ccr3	C	T	9: 123,829,061 (GRCm39)	T132I	probably damaging	Het
Cfap65	C	A	1: 74,971,077 (GRCm39)	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,354,384 (GRCm39)	I218K	unknown	Het
Ddx23	A	G	15: 98,554,481 (GRCm39)		probably null	Het
Dmkn	A	G	7: 30,464,719 (GRCm39)	S231G	probably benign	Het
Ep300	T	C	15: 81,525,514 (GRCm39)	I1446T	unknown	Het
Fmnl1	T	C	11: 103,080,795 (GRCm39)	F318S	probably damaging	Het
Grik5	A	T	7: 24,722,805 (GRCm39)	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,925 (GRCm39)	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,907,990 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,358 (GRCm39)	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,527,700 (GRCm39)	N884I	probably benign	Het
Krba1	T	C	6: 48,382,159 (GRCm39)		probably benign	Het
Krt18	G	T	15: 101,939,409 (GRCm39)	R294L	probably benign	Het
Lctl	T	A	9: 64,029,389 (GRCm39)	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375 (GRCm39)	S535F	possibly damaging	Het
Lrba	A	C	3: 86,449,995 (GRCm39)	N2105H	probably damaging	Het
Lrrc10	A	G	10: 116,881,419 (GRCm39)	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,220,855 (GRCm39)	V104E	probably damaging	Het
Mgat3	C	T	15: 80,096,778 (GRCm39)	T535I	probably benign	Het
Nav3	T	C	10: 109,552,503 (GRCm39)	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,753,826 (GRCm39)	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,024,117 (GRCm39)	F441I	probably benign	Het
Obscn	A	G	11: 58,942,347 (GRCm39)		probably benign	Het
Or1p1	T	C	11: 74,179,501 (GRCm39)	F10L	probably benign	Het
Or56b34	T	C	7: 104,937,726 (GRCm39)	V142A	probably damaging	Het
Or5au1	T	C	14: 52,273,442 (GRCm39)	N42S	possibly damaging	Het
Osr1	A	T	12: 9,629,691 (GRCm39)	Y188F	probably damaging	Het
Pak2	A	T	16: 31,852,661 (GRCm39)	N293K	possibly damaging	Het
Pappa	A	T	4: 65,226,049 (GRCm39)	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,660,442 (GRCm39)	Q679*	probably null	Het
Pik3r5	T	A	11: 68,377,448 (GRCm39)		probably null	Het
Plbd2	C	T	5: 120,624,104 (GRCm39)		probably null	Het
Ppp1r3a	G	T	6: 14,754,516 (GRCm39)	P244T	possibly damaging	Het
Pum1	C	A	4: 130,499,985 (GRCm39)	R960S	probably benign	Het
Ralgapb	T	C	2: 158,315,169 (GRCm39)	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,595,906 (GRCm39)	I34F	probably damaging	Het
Rgl3	T	A	9: 21,885,398 (GRCm39)	Q644L	probably benign	Het
Rpap2	T	C	5: 107,768,340 (GRCm39)	S393P	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
S100a11	A	C	3: 93,431,509 (GRCm39)		probably null	Het
Septin4	T	C	11: 87,472,022 (GRCm39)	S11P	probably benign	Het
Serpina1c	T	C	12: 103,862,350 (GRCm39)	S322G	probably benign	Het
Setdb1	A	T	3: 95,248,762 (GRCm39)	C385S	probably damaging	Het
Shank2	A	T	7: 143,746,204 (GRCm39)	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,528,221 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tbcd	C	A	11: 121,485,100 (GRCm39)	Q761K	probably benign	Het
Tmed6	C	T	8: 107,792,198 (GRCm39)	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,701 (GRCm39)	T18A	probably benign	Het
Tsc1	T	A	2: 28,568,955 (GRCm39)		probably benign	Het
Ube2m	T	C	7: 12,769,657 (GRCm39)	N49D	probably damaging	Het
Ubqlnl	T	C	7: 103,799,254 (GRCm39)	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,449,332 (GRCm39)	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,525,075 (GRCm39)	R24S	probably benign	Het
Wfs1	C	A	5: 37,130,538 (GRCm39)	S236I	probably damaging	Het
Xpot	A	T	10: 121,441,544 (GRCm39)	N560K	probably benign	Het
Yipf3	A	G	17: 46,562,503 (GRCm39)	T303A	probably benign	Het
Zfp790	T	C	7: 29,524,300 (GRCm39)	W19R	probably damaging	Het
Zfp846	T	C	9: 20,505,303 (GRCm39)	C388R	probably benign	Het
Zpr1	T	A	9: 46,184,634 (GRCm39)	I47N	probably damaging	Het

Other mutations in Or2a56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Or2a56	APN	6	42,933,370 (GRCm39)	utr 3 prime	probably benign
IGL02135:Or2a56	APN	6	42,932,585 (GRCm39)	missense	probably damaging	0.99
IGL02323:Or2a56	APN	6	42,932,917 (GRCm39)	missense	probably benign	0.02
IGL02398:Or2a56	APN	6	42,933,046 (GRCm39)	missense	probably benign	0.02
IGL02622:Or2a56	APN	6	42,932,663 (GRCm39)	missense	probably damaging	0.99
R0416:Or2a56	UTSW	6	42,932,504 (GRCm39)	missense	probably benign
R0959:Or2a56	UTSW	6	42,932,686 (GRCm39)	missense	probably benign
R1181:Or2a56	UTSW	6	42,932,492 (GRCm39)	missense	probably benign	0.23
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1604:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.73
R3021:Or2a56	UTSW	6	42,933,118 (GRCm39)	missense	possibly damaging	0.91
R4226:Or2a56	UTSW	6	42,932,689 (GRCm39)	missense	probably benign
R4227:Or2a56	UTSW	6	42,932,648 (GRCm39)	missense	possibly damaging	0.95
R4776:Or2a56	UTSW	6	42,932,455 (GRCm39)	missense	probably benign	0.00
R5941:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.86
R7539:Or2a56	UTSW	6	42,933,037 (GRCm39)	missense	possibly damaging	0.95
R7763:Or2a56	UTSW	6	42,932,723 (GRCm39)	missense	probably benign	0.00
R9800:Or2a56	UTSW	6	42,933,091 (GRCm39)	missense	probably damaging	1.00
X0063:Or2a56	UTSW	6	42,932,953 (GRCm39)	missense	possibly damaging	0.64
Z1176:Or2a56	UTSW	6	42,933,232 (GRCm39)	missense	probably benign	0.14
Z1176:Or2a56	UTSW	6	42,932,624 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTCCAAGCAGACCTGAGTGTG -3'
(R):5'- CCAGCTTGAGGACAGACAGGATTTC -3'

Sequencing Primer
(F):5'- CAGACCTGAGTGTGGAGTG -3'
(R):5'- GCAGCTTCAGGATGAGAACC -3'

Posted On

2013-04-11