Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Or2ab1'

228870

Institutional Source

Beutler Lab

Gene Symbol

Or2ab1

Ensembl Gene

ENSMUSG00000056564

Gene Name

olfactory receptor family 2 subfamily AB member 1

Synonyms

GA_x6K02T2NKPP-822947-822000, Olfr324, MOR102-2

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58488171-58489292 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58488396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 58 (N58S)

Ref Sequence

ENSEMBL: ENSMUSP00000154149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054683] [ENSMUST00000214990] [ENSMUST00000216965]

AlphaFold

Q5NCC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000054683
AA Change: N60S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056457
Gene: ENSMUSG00000056564
AA Change: N60S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	49	324	3e-47	PFAM
Pfam:7tm_1	59	307	4.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214990
AA Change: N52S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216965
AA Change: N58S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca15	A	T	7: 119,960,127 (GRCm39)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,709,588 (GRCm39)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI467606	A	G	7: 126,692,009 (GRCm39)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cic	T	A	7: 24,972,876 (GRCm39)	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,949,722 (GRCm39)	D118G	probably damaging	Het
Csnk1g1	A	G	9: 65,909,512 (GRCm39)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,775,224 (GRCm39)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,290,700 (GRCm39)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,551,132 (GRCm39)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,141,687 (GRCm39)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,581,950 (GRCm39)	S259G	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Fbxo21	T	C	5: 118,115,031 (GRCm39)	S56P	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,817,200 (GRCm39)	H509L	probably benign	Het
Fth1	T	A	19: 9,961,576 (GRCm39)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,476,450 (GRCm39)	E220*	probably null	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm1527	C	A	3: 28,980,796 (GRCm39)	T632N	probably benign	Het
Gm4787	A	T	12: 81,425,694 (GRCm39)	S155T	probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Helb	T	C	10: 119,941,671 (GRCm39)	Y339C	probably benign	Het
Hs3st4	A	G	7: 123,996,236 (GRCm39)	I301V	probably benign	Het
Hunk	A	G	16: 90,290,368 (GRCm39)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il10	T	C	1: 130,947,770 (GRCm39)	L41P	probably damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt90	T	C	15: 101,466,794 (GRCm39)	E263G	probably benign	Het
Lama2	C	T	10: 27,040,922 (GRCm39)	C1467Y	probably damaging	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Med24	A	G	11: 98,606,472 (GRCm39)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,653,350 (GRCm39)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,217,322 (GRCm39)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,535,745 (GRCm39)	E657G	probably damaging	Het
Muc21	T	A	17: 35,932,297 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,189,150 (GRCm39)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,400,494 (GRCm39)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,051,912 (GRCm39)	N1012D	probably benign	Het
Ntrk2	A	C	13: 59,007,111 (GRCm39)	K238Q	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or52n2b	T	C	7: 104,565,982 (GRCm39)	N174D	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,407,237 (GRCm39)	S496L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,414,148 (GRCm39)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,716,427 (GRCm39)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,913,269 (GRCm39)		probably null	Het
Prl3d3	A	C	13: 27,346,304 (GRCm39)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,751,551 (GRCm39)	D383E	probably benign	Het
Psmc4	A	T	7: 27,748,322 (GRCm39)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,318,106 (GRCm39)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm39)	V83G	probably damaging	Het
Rnls	A	C	19: 33,179,944 (GRCm39)	S51A	probably benign	Het
Siglecf	A	G	7: 43,001,804 (GRCm39)	T205A	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,839,067 (GRCm39)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Specc1	T	G	11: 62,009,122 (GRCm39)	S293A	probably benign	Het
Speer2	T	G	16: 69,657,385 (GRCm39)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,065,078 (GRCm39)	D169G	probably benign	Het
Tbx20	C	A	9: 24,681,067 (GRCm39)	E142*	probably null	Het
Tcp1	T	A	17: 13,139,699 (GRCm39)	L199H	probably damaging	Het
Tex26	A	T	5: 149,363,204 (GRCm39)	R5W	probably damaging	Het
Tg	C	A	15: 66,700,402 (GRCm39)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Vps54	C	T	11: 21,227,955 (GRCm39)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,502,627 (GRCm39)		probably null	Het
Zfp81	T	C	17: 33,554,278 (GRCm39)	T179A	probably benign	Het

Other mutations in Or2ab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Or2ab1	APN	11	58,488,408 (GRCm39)	missense	possibly damaging	0.67
IGL02261:Or2ab1	APN	11	58,488,630 (GRCm39)	missense	probably benign	0.44
IGL02725:Or2ab1	APN	11	58,488,690 (GRCm39)	missense	probably benign	0.01
IGL03290:Or2ab1	APN	11	58,489,149 (GRCm39)	missense	probably damaging	1.00
IGL03308:Or2ab1	APN	11	58,488,525 (GRCm39)	missense	probably damaging	0.98
R0531:Or2ab1	UTSW	11	58,488,674 (GRCm39)	missense	probably benign	0.01
R1463:Or2ab1	UTSW	11	58,488,947 (GRCm39)	missense	probably damaging	0.98
R1813:Or2ab1	UTSW	11	58,489,133 (GRCm39)	missense	probably damaging	1.00
R2062:Or2ab1	UTSW	11	58,488,396 (GRCm39)	missense	probably damaging	1.00
R2065:Or2ab1	UTSW	11	58,488,396 (GRCm39)	missense	probably damaging	1.00
R2067:Or2ab1	UTSW	11	58,488,396 (GRCm39)	missense	probably damaging	1.00
R2068:Or2ab1	UTSW	11	58,488,396 (GRCm39)	missense	probably damaging	1.00
R4584:Or2ab1	UTSW	11	58,488,830 (GRCm39)	missense	probably benign	0.03
R6237:Or2ab1	UTSW	11	58,488,831 (GRCm39)	missense	probably damaging	0.97
R6397:Or2ab1	UTSW	11	58,488,338 (GRCm39)	missense	probably benign	0.00
R7056:Or2ab1	UTSW	11	58,489,044 (GRCm39)	missense	probably damaging	1.00
R8048:Or2ab1	UTSW	11	58,488,233 (GRCm39)	missense	unknown
R8765:Or2ab1	UTSW	11	58,488,785 (GRCm39)	missense	possibly damaging	0.87
R9044:Or2ab1	UTSW	11	58,489,126 (GRCm39)	missense	possibly damaging	0.78
R9708:Or2ab1	UTSW	11	58,488,927 (GRCm39)	missense	probably benign	0.00
Z1186:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1186:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign
Z1186:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1186:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1187:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign
Z1187:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1187:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1187:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1188:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1188:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1188:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1188:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign
Z1189:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1189:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1189:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign
Z1189:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1190:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1190:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1190:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1190:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign
Z1191:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1191:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1191:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1191:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign
Z1192:Or2ab1	UTSW	11	58,488,491 (GRCm39)	missense	possibly damaging	0.91
Z1192:Or2ab1	UTSW	11	58,488,356 (GRCm39)	missense	probably benign
Z1192:Or2ab1	UTSW	11	58,488,344 (GRCm39)	missense	probably benign	0.02
Z1192:Or2ab1	UTSW	11	58,488,776 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTGCTGATCTGACCTAAGAG -3'
(R):5'- TCGACTCCAAGAACAGGGTGAG -3'

Sequencing Primer
(F):5'- GCTGATCTGACCTAAGAGTTTTCATG -3'
(R):5'- GTAGGTCTGAGCCAGGCAG -3'

Posted On

2014-09-17