Mutagenetix > Incidental Mutation

Incidental Mutation 'R7529:Or2v2'

583207

Institutional Source

Beutler Lab

Gene Symbol

Or2v2

Ensembl Gene

ENSMUSG00000047511

Gene Name

olfactory receptor family 2 subfamily V member 2

Synonyms

Olfr1396, GA_x6K02T2QP88-6321048-6321995, MOR276-2

MMRRC Submission

045601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49003604-49004584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49003686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 289 (L289P)

Ref Sequence

ENSEMBL: ENSMUSP00000104824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000060398] [ENSMUST00000102785] [ENSMUST00000109201] [ENSMUST00000179282] [ENSMUST00000203007] [ENSMUST00000203149] [ENSMUST00000203810] [ENSMUST00000215553]

AlphaFold

Q7TQS8

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060398
AA Change: L289P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056876
Gene: ENSMUSG00000047511
AA Change: L289P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	3.2e-46	PFAM
Pfam:7tm_1	53	302	7.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102785

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109201
AA Change: L289P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104824
Gene: ENSMUSG00000047511
AA Change: L289P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	252	1e-5	PFAM
Pfam:7tm_1	42	291	4e-35	PFAM
Pfam:7tm_4	140	284	5.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203007
AA Change: L289P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145057
Gene: ENSMUSG00000047511
AA Change: L289P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	9.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	36	252	1e-5	PFAM
Pfam:7tm_1	42	291	3.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203149

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203810

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215553
AA Change: L289P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 127,836,336 (GRCm39)	K86*	probably null	Het
Ablim3	A	C	18: 61,955,039 (GRCm39)	S317A	probably benign	Het
Adcy1	T	C	11: 7,089,157 (GRCm39)	S524P	probably damaging	Het
Agps	C	A	2: 75,662,696 (GRCm39)	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,844,848 (GRCm39)	R250S	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atoh8	G	T	6: 72,200,825 (GRCm39)	D288E	probably benign	Het
B3galt2	A	C	1: 143,522,274 (GRCm39)	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,247,727 (GRCm39)	V343I	probably benign	Het
Cage1	T	C	13: 38,209,731 (GRCm39)	N82S	possibly damaging	Het
Cep350	A	G	1: 155,737,669 (GRCm39)	S2725P	probably benign	Het
Cfap65	T	C	1: 74,965,769 (GRCm39)	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,539,040 (GRCm39)	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,233,942 (GRCm39)	M382K	probably benign	Het
Dchs2	G	A	3: 83,261,705 (GRCm39)	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,653,876 (GRCm39)	N51S	probably damaging	Het
Dnah17	A	G	11: 117,940,692 (GRCm39)		probably null	Het
Dnal1	A	G	12: 84,178,117 (GRCm39)	I35V	probably benign	Het
Dtnbp1	A	G	13: 45,084,546 (GRCm39)	F198S	probably damaging	Het
Edar	A	T	10: 58,447,830 (GRCm39)	S160T	probably benign	Het
Enpp3	A	T	10: 24,674,072 (GRCm39)	N409K	probably damaging	Het
Ercc6	T	A	14: 32,282,686 (GRCm39)	C726*	probably null	Het
Extl2	G	A	3: 115,821,055 (GRCm39)	V301I	possibly damaging	Het
G2e3	A	G	12: 51,418,387 (GRCm39)	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Galnt17	A	G	5: 131,335,218 (GRCm39)	V74A	probably damaging	Het
Ggta1	A	G	2: 35,304,256 (GRCm39)	W76R	probably damaging	Het
Gm9772	T	A	17: 22,226,140 (GRCm39)	D48V	probably benign	Het
Herpud2	T	C	9: 25,020,193 (GRCm39)	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,699,954 (GRCm39)	S53P	possibly damaging	Het
Il23r	T	A	6: 67,467,720 (GRCm39)	M16L	possibly damaging	Het
Ints1	G	A	5: 139,753,481 (GRCm39)	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,096,096 (GRCm39)	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,607,266 (GRCm39)	V248E	probably damaging	Het
Krtap5-5	A	G	7: 141,783,429 (GRCm39)	C74R	unknown	Het
Luzp1	G	T	4: 136,268,243 (GRCm39)	L155F	probably damaging	Het
Mcam	T	C	9: 44,050,192 (GRCm39)	V209A	probably benign	Het
Med1	G	C	11: 98,046,791 (GRCm39)	T1335R	unknown	Het
Mroh2b	A	G	15: 4,978,491 (GRCm39)	I1346V	probably damaging	Het
Mrpl4	C	G	9: 20,918,975 (GRCm39)	Q201E	probably benign	Het
Muc21	A	T	17: 35,930,123 (GRCm39)	S1354R	unknown	Het
Mylk2	T	C	2: 152,757,624 (GRCm39)	L326P	probably damaging	Het
Myot	A	T	18: 44,479,240 (GRCm39)	R326*	probably null	Het
Nox3	T	A	17: 3,722,050 (GRCm39)	R288S	probably damaging	Het
Nox4	A	T	7: 87,044,976 (GRCm39)	Y572F	unknown	Het
Or5an10	A	G	19: 12,276,086 (GRCm39)	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,607,526 (GRCm39)	E253*	probably null	Het
Plcb2	T	C	2: 118,540,715 (GRCm39)	H1052R	probably damaging	Het
Plpp5	A	T	8: 26,214,233 (GRCm39)	Q250L	probably benign	Het
Plxna2	T	C	1: 194,326,179 (GRCm39)	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,329,963 (GRCm39)	K172E	probably benign	Het
Pramel23	T	C	4: 143,429,244 (GRCm39)			Het
Prl8a9	T	A	13: 27,744,511 (GRCm39)	D110V	probably benign	Het
Prrx1	T	C	1: 163,081,533 (GRCm39)		probably null	Het
Prss52	T	A	14: 64,347,037 (GRCm39)	H70Q	probably benign	Het
Rcc1	T	C	4: 132,061,874 (GRCm39)	T300A	probably benign	Het
Rnf114	T	C	2: 167,349,014 (GRCm39)	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,117,732 (GRCm39)	I431T	probably damaging	Het
Rnmt	A	G	18: 68,444,726 (GRCm39)	M232V	probably benign	Het
Rrs1	A	C	1: 9,616,417 (GRCm39)	Q223H	probably benign	Het
Scyl3	A	T	1: 163,771,438 (GRCm39)	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,230,707 (GRCm39)	T533S	probably benign	Het
Slc26a2	A	G	18: 61,331,430 (GRCm39)	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,278,275 (GRCm39)	V260D	possibly damaging	Het
Snrpa	A	C	7: 26,888,878 (GRCm39)	M174R	probably benign	Het
Ss18l1	C	T	2: 179,699,950 (GRCm39)	A270V	possibly damaging	Het
Stk19	G	T	17: 35,043,632 (GRCm39)	Q193K	probably benign	Het
Syne1	T	A	10: 5,374,382 (GRCm39)	I142L	probably damaging	Het
Tbx2	T	C	11: 85,731,727 (GRCm39)	S675P	probably benign	Het
Tcaf1	A	G	6: 42,652,289 (GRCm39)	I731T	probably damaging	Het
Tg	G	T	15: 66,566,617 (GRCm39)	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,816,922 (GRCm39)	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Wls	A	T	3: 159,578,644 (GRCm39)	N69Y	probably benign	Het
Wnk2	A	G	13: 49,254,457 (GRCm39)	F353L	possibly damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp64	C	T	2: 168,735,992 (GRCm39)	G562R	probably benign	Het
Zfp663	T	G	2: 165,194,728 (GRCm39)	E497A	probably damaging	Het
Zfp995	A	T	17: 22,099,333 (GRCm39)	C300*	probably null	Het

Other mutations in Or2v2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Or2v2	APN	11	49,003,680 (GRCm39)	missense	probably damaging	1.00
IGL01514:Or2v2	APN	11	49,004,403 (GRCm39)	missense	probably damaging	1.00
IGL03188:Or2v2	APN	11	49,004,536 (GRCm39)	missense	probably damaging	1.00
R0314:Or2v2	UTSW	11	49,004,519 (GRCm39)	missense	possibly damaging	0.54
R1242:Or2v2	UTSW	11	49,003,728 (GRCm39)	missense	possibly damaging	0.95
R1625:Or2v2	UTSW	11	49,004,071 (GRCm39)	missense	probably benign	0.01
R2212:Or2v2	UTSW	11	49,004,043 (GRCm39)	missense	probably damaging	1.00
R4290:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4291:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4292:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4294:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4295:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4351:Or2v2	UTSW	11	49,004,530 (GRCm39)	missense	probably damaging	0.99
R4817:Or2v2	UTSW	11	49,004,448 (GRCm39)	missense	probably damaging	1.00
R4859:Or2v2	UTSW	11	49,003,993 (GRCm39)	missense	probably damaging	1.00
R5245:Or2v2	UTSW	11	49,004,116 (GRCm39)	missense	probably benign	0.12
R5350:Or2v2	UTSW	11	49,003,879 (GRCm39)	missense	probably benign	0.00
R6625:Or2v2	UTSW	11	49,003,896 (GRCm39)	missense	probably damaging	1.00
R8410:Or2v2	UTSW	11	49,004,511 (GRCm39)	missense	possibly damaging	0.88
R8841:Or2v2	UTSW	11	49,003,938 (GRCm39)	missense	probably benign	0.19
R9418:Or2v2	UTSW	11	49,004,484 (GRCm39)	missense	probably benign	0.00
X0024:Or2v2	UTSW	11	49,004,138 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TCTGTCCAAGATAGCAGGTGTC -3'
(R):5'- ACCGTACTCCATATGCACTCTG -3'

Sequencing Primer
(F):5'- TCCAAGATAGCAGGTGTCAAGCAC -3'
(R):5'- TATGCACTCTGCTAAATCCCAG -3'

Posted On

2019-10-17