Mutagenetix > Incidental Mutation

Incidental Mutation 'R8960:Or2y1d'

682297

Institutional Source

Beutler Lab

Gene Symbol

Or2y1d

Ensembl Gene

ENSMUSG00000107573

Gene Name

olfactory receptor family 2 subfamily Y member 1D

Synonyms

Olfr1389, MOR256-1, GA_x6K02T2QP88-6004387-6003452

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R8960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49321254-49322326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49321543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 80 (Q80L)

Ref Sequence

ENSEMBL: ENSMUSP00000149222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000203369] [ENSMUST00000216641] [ENSMUST00000217595]

AlphaFold

Q8VGX0

Predicted Effect

probably benign
Transcript: ENSMUST00000203369
AA Change: Q80L

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145461
Gene: ENSMUSG00000107573
AA Change: Q80L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	1.9e-49	PFAM
Pfam:7tm_1	41	289	6.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216641
AA Change: Q80L

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000217595
AA Change: Q80L

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

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

Validation Efficiency

100% (78/78)

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
Abcg4	G	A	9: 44,186,063 (GRCm39)	Q603*	probably null	Het
Adar	A	G	3: 89,647,516 (GRCm39)	Y165C	probably damaging	Het
Afp	A	G	5: 90,651,500 (GRCm39)	T372A	probably benign	Het
Asah1	T	A	8: 41,800,061 (GRCm39)	L184F	probably damaging	Het
Bltp1	A	G	3: 37,067,132 (GRCm39)	E3548G	probably damaging	Het
Bpifb2	A	T	2: 153,731,046 (GRCm39)	I206F	possibly damaging	Het
Btn1a1	C	A	13: 23,648,741 (GRCm39)	D31Y	possibly damaging	Het
C4b	T	A	17: 34,952,892 (GRCm39)	D1110V	probably damaging	Het
Ccdc162	T	A	10: 41,429,178 (GRCm39)	D1901V	probably damaging	Het
Cd101	A	G	3: 100,910,817 (GRCm39)	V947A	probably benign	Het
Cd55b	A	T	1: 130,338,375 (GRCm39)	S238T	possibly damaging	Het
Cdc25c	T	C	18: 34,866,329 (GRCm39)	I437V	possibly damaging	Het
Cfap97	T	C	8: 46,623,605 (GRCm39)	S332P	probably damaging	Het
Chpf	A	G	1: 75,452,398 (GRCm39)	L352P	probably damaging	Het
Cntln	T	A	4: 85,018,961 (GRCm39)	M1217K	possibly damaging	Het
Cntrl	A	G	2: 35,052,053 (GRCm39)	E1629G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,396 (GRCm39)	Y206H	probably damaging	Het
Cyp2c55	T	A	19: 38,995,547 (GRCm39)	W20R	probably null	Het
Dhx35	A	T	2: 158,657,393 (GRCm39)	H130L	possibly damaging	Het
Dnm1	A	G	2: 32,202,741 (GRCm39)	V54A	probably damaging	Het
Eea1	T	A	10: 95,864,381 (GRCm39)	S967T	probably benign	Het
Efcab3	A	G	11: 104,820,772 (GRCm39)		probably benign	Het
Elf3	A	T	1: 135,182,813 (GRCm39)	I304N	probably damaging	Het
Eps8l1	G	T	7: 4,481,214 (GRCm39)	R672L	probably damaging	Het
Fam163a	A	T	1: 155,954,862 (GRCm39)	C96*	probably null	Het
Fancd2	T	C	6: 113,540,129 (GRCm39)		probably null	Het
Fbxo3	C	T	2: 103,858,274 (GRCm39)	L23F	possibly damaging	Het
Fbxw14	A	G	9: 109,114,367 (GRCm39)	V121A	possibly damaging	Het
Fgd6	T	A	10: 93,880,868 (GRCm39)	V574D	probably benign	Het
Gask1b	T	C	3: 79,794,293 (GRCm39)	S254P	probably benign	Het
Gbp11	A	G	5: 105,479,251 (GRCm39)	F124S	probably damaging	Het
Grin1	A	T	2: 25,195,428 (GRCm39)		probably benign	Het
Grm2	T	G	9: 106,531,345 (GRCm39)	E48A	probably benign	Het
H2-M10.5	T	A	17: 37,084,770 (GRCm39)	Y165N	probably benign	Het
Hoxa13	A	C	6: 52,236,976 (GRCm39)	S172A	probably benign	Het
Ifih1	T	A	2: 62,442,235 (GRCm39)	K376N	possibly damaging	Het
Insrr	C	A	3: 87,720,386 (GRCm39)	T1008K	probably damaging	Het
Itih1	A	G	14: 30,655,414 (GRCm39)	S594P	probably damaging	Het
Kidins220	T	C	12: 25,106,914 (GRCm39)	S1365P	probably benign	Het
Malrd1	A	T	2: 15,570,241 (GRCm39)	K158*	probably null	Het
Man2c1	G	A	9: 57,045,279 (GRCm39)	G504R	probably damaging	Het
Mbd1	T	C	18: 74,406,890 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,702,025 (GRCm39)	A323V	probably benign	Het
Mroh9	A	C	1: 162,883,196 (GRCm39)	F428V	probably benign	Het
Myo7b	T	A	18: 32,127,299 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,591,463 (GRCm39)	H535L	possibly damaging	Het
Obscn	A	T	11: 58,922,438 (GRCm39)	V6567E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,230 (GRCm39)	S207A	unknown	Het
Or1e33	A	T	11: 73,738,167 (GRCm39)	C261*	probably null	Het
Or2g25	T	A	17: 37,970,760 (GRCm39)	T155S	probably benign	Het
Or5h25	T	A	16: 58,930,555 (GRCm39)	R139S	probably benign	Het
Or8b53	A	T	9: 38,667,385 (GRCm39)	I134F	possibly damaging	Het
Pde4dip	T	C	3: 97,700,464 (GRCm39)	D238G	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pgbd5	T	A	8: 125,111,175 (GRCm39)	Y172F	probably benign	Het
Pkd1	A	G	17: 24,795,176 (GRCm39)	T2288A	probably damaging	Het
Ppp6r2	T	A	15: 89,137,239 (GRCm39)	M1K	probably null	Het
Rc3h1	A	G	1: 160,774,164 (GRCm39)	T344A	probably damaging	Het
Rgs5	T	C	1: 169,504,461 (GRCm39)	V37A	possibly damaging	Het
Rgs9	A	G	11: 109,139,815 (GRCm39)	S17P	possibly damaging	Het
Rusc1	T	A	3: 88,991,865 (GRCm39)	D407V	probably damaging	Het
Rwdd1	T	A	10: 33,895,383 (GRCm39)	I18F	possibly damaging	Het
Satb2	C	T	1: 56,910,470 (GRCm39)		probably null	Het
Sds	A	G	5: 120,621,659 (GRCm39)	E267G	probably damaging	Het
Sema4b	T	A	7: 79,875,076 (GRCm39)	V822E	probably damaging	Het
Sfxn5	A	T	6: 85,266,176 (GRCm39)	M107K	probably damaging	Het
Slc5a8	C	T	10: 88,722,035 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Syt14	A	C	1: 192,666,515 (GRCm39)		probably benign	Het
Vmn2r124	T	G	17: 18,283,291 (GRCm39)	Y328*	probably null	Het
Vmn2r86	T	A	10: 130,289,672 (GRCm39)	E74D	probably benign	Het
Vmo1	A	C	11: 70,404,476 (GRCm39)	L175W	probably damaging	Het
Vps13a	G	T	19: 16,683,247 (GRCm39)	L982I	possibly damaging	Het
Wdr19	T	C	5: 65,398,211 (GRCm39)	V812A	probably benign	Het
Wdr27	T	C	17: 15,103,908 (GRCm39)	I733V	probably benign	Het
Wdr54	A	T	6: 83,132,739 (GRCm39)	H38Q	probably damaging	Het
Wdr76	G	A	2: 121,341,104 (GRCm39)	V50I	probably damaging	Het
Zfp930	T	A	8: 69,680,541 (GRCm39)	N59K	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het

Other mutations in Or2y1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Or2y1d	APN	11	49,321,859 (GRCm39)	missense	probably damaging	1.00
IGL02468:Or2y1d	APN	11	49,321,941 (GRCm39)	missense	probably damaging	0.99
IGL02607:Or2y1d	APN	11	49,321,339 (GRCm39)	missense	probably damaging	1.00
IGL02721:Or2y1d	APN	11	49,321,468 (GRCm39)	nonsense	probably null
IGL02812:Or2y1d	APN	11	49,321,749 (GRCm39)	missense	probably damaging	1.00
IGL03086:Or2y1d	APN	11	49,321,632 (GRCm39)	missense	probably benign	0.03
IGL03047:Or2y1d	UTSW	11	49,321,794 (GRCm39)	missense	probably benign	0.10
PIT4531001:Or2y1d	UTSW	11	49,321,753 (GRCm39)	missense	probably benign	0.01
R0413:Or2y1d	UTSW	11	49,322,212 (GRCm39)	missense	possibly damaging	0.82
R0598:Or2y1d	UTSW	11	49,322,230 (GRCm39)	missense	probably benign	0.00
R0653:Or2y1d	UTSW	11	49,322,078 (GRCm39)	nonsense	probably null
R1654:Or2y1d	UTSW	11	49,321,329 (GRCm39)	missense	probably benign	0.00
R2321:Or2y1d	UTSW	11	49,322,107 (GRCm39)	missense	probably benign	0.00
R4995:Or2y1d	UTSW	11	49,321,482 (GRCm39)	missense	probably damaging	1.00
R5670:Or2y1d	UTSW	11	49,322,035 (GRCm39)	missense	probably damaging	1.00
R6127:Or2y1d	UTSW	11	49,321,633 (GRCm39)	missense	probably damaging	0.97
R6327:Or2y1d	UTSW	11	49,321,828 (GRCm39)	missense	probably damaging	1.00
R6935:Or2y1d	UTSW	11	49,321,825 (GRCm39)	missense	probably damaging	0.97
R7726:Or2y1d	UTSW	11	49,321,727 (GRCm39)	nonsense	probably null
R7923:Or2y1d	UTSW	11	49,321,432 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCCAGTTTAGGGAAAGGC -3'
(R):5'- GCTGAGGGTGCATAATGGTC -3'

Sequencing Primer
(F):5'- GGAAAGGCTTCATATTAGTAGGCTTC -3'
(R):5'- GCATAATGGTCGTGTAGTGCAG -3'

Posted On

2021-08-31