Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Or52n4b'

241092

Institutional Source

Beutler Lab

Gene Symbol

Or52n4b

Ensembl Gene

ENSMUSG00000060759

Gene Name

olfactory receptor family 52 subfamily N member 4B

Synonyms

MOR34-9, MOR34-12, GA_x6K02T2PBJ9-10874315-10875286, MOR34-8P, Olfr503, Olfr1548, MOR34-9

MMRRC Submission

040217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108143734-108144705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108144095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 119 (L119P)

Ref Sequence

ENSEMBL: ENSMUSP00000147778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]

AlphaFold

Q7TRU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000078162
AA Change: L121P

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

SMART Domains

Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: L121P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	3e-103	PFAM
Pfam:7TM_GPCR_Srsx	39	268	2.4e-7	PFAM
Pfam:7tm_1	45	297	9.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211693
AA Change: L119P

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

Meta Mutation Damage Score

0.3498

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,254,619 (GRCm39)	S1899T	probably damaging	Het
Accs	G	T	2: 93,672,243 (GRCm39)	N208K	probably benign	Het
Actn4	C	A	7: 28,618,178 (GRCm39)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,607,064 (GRCm39)	S233P	probably damaging	Het
Adrm1b	G	A	3: 92,335,730 (GRCm39)	A324V	probably damaging	Het
Agmat	C	T	4: 141,476,899 (GRCm39)	R102C	probably benign	Het
Akap8l	T	C	17: 32,540,569 (GRCm39)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,834,519 (GRCm39)	I788V	probably damaging	Het
Arhgef12	G	T	9: 42,917,167 (GRCm39)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,187,529 (GRCm39)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 55,022,154 (GRCm39)	R43*	probably null	Het
Bcas3	T	C	11: 85,692,769 (GRCm39)	S862P	probably damaging	Het
Blm	A	T	7: 80,149,595 (GRCm39)	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,218,911 (GRCm39)	V166I	probably benign	Het
Cep120	G	T	18: 53,860,707 (GRCm39)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,244,238 (GRCm39)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,539,900 (GRCm39)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Dach1	A	G	14: 98,405,917 (GRCm39)		probably null	Het
Ddx20	A	T	3: 105,587,656 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,177,476 (GRCm39)	S185G	probably damaging	Het
Ep400	A	T	5: 110,841,421 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,219 (GRCm39)	I351K	probably damaging	Het
Fbxo31	T	C	8: 122,293,050 (GRCm39)	I112V	probably benign	Het
Galntl5	A	T	5: 25,403,476 (GRCm39)	N149I	probably damaging	Het
Gja8	A	T	3: 96,827,218 (GRCm39)	F148Y	probably damaging	Het
Gpatch1	A	T	7: 34,993,252 (GRCm39)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,888,046 (GRCm39)	T76M	probably damaging	Het
Htr4	T	A	18: 62,546,787 (GRCm39)	C113*	probably null	Het
Igf1r	T	A	7: 67,814,982 (GRCm39)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,295,870 (GRCm39)	P799L	unknown	Het
Lat	A	T	7: 125,967,137 (GRCm39)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,697,678 (GRCm39)	R51C	probably benign	Het
Map3k1	A	G	13: 111,892,322 (GRCm39)	S978P	probably benign	Het
Masp1	T	A	16: 23,271,271 (GRCm39)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,051,250 (GRCm39)	R415*	probably null	Het
Mtmr10	A	G	7: 63,987,403 (GRCm39)	T648A	probably benign	Het
Myh2	T	C	11: 67,082,563 (GRCm39)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,816,649 (GRCm39)	E64G	probably damaging	Het
Or4a68	T	C	2: 89,270,381 (GRCm39)	M81V	probably benign	Het
Or6c3	A	T	10: 129,309,289 (GRCm39)	I243F	probably damaging	Het
Or9s27	G	A	1: 92,516,708 (GRCm39)	V219I	probably benign	Het
Pcdhb8	T	G	18: 37,490,127 (GRCm39)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,132,542 (GRCm39)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,267,811 (GRCm39)	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 21,182,005 (GRCm39)		probably null	Het
Retreg3	G	T	11: 101,010,459 (GRCm39)	Y49*	probably null	Het
Rrp36	T	C	17: 46,983,746 (GRCm39)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,059,169 (GRCm39)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,480,585 (GRCm39)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,066,907 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,190 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,985,575 (GRCm39)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,769,754 (GRCm39)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,192,362 (GRCm39)	I691F	probably benign	Het
Tnxb	T	C	17: 34,923,114 (GRCm39)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,570,853 (GRCm39)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,533,111 (GRCm39)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,809,661 (GRCm39)		probably null	Het
Usp37	A	C	1: 74,483,685 (GRCm39)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,429,150 (GRCm39)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 21,067,684 (GRCm39)	I291T	probably benign	Het
Zfp229	T	G	17: 21,965,258 (GRCm39)	V496G	possibly damaging	Het

Other mutations in Or52n4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Or52n4b	APN	7	108,143,933 (GRCm39)	nonsense	probably null
IGL02031:Or52n4b	APN	7	108,144,137 (GRCm39)	missense	probably benign	0.03
IGL02426:Or52n4b	APN	7	108,144,187 (GRCm39)	missense	probably benign	0.01
IGL02502:Or52n4b	APN	7	108,143,846 (GRCm39)	missense	probably damaging	1.00
IGL03208:Or52n4b	APN	7	108,144,326 (GRCm39)	missense	probably benign	0.02
R0507:Or52n4b	UTSW	7	108,144,292 (GRCm39)	missense	probably damaging	0.98
R0967:Or52n4b	UTSW	7	108,143,996 (GRCm39)	missense	probably damaging	1.00
R1181:Or52n4b	UTSW	7	108,144,509 (GRCm39)	missense	probably benign	0.00
R1501:Or52n4b	UTSW	7	108,143,782 (GRCm39)	missense	probably benign
R1596:Or52n4b	UTSW	7	108,144,290 (GRCm39)	missense	possibly damaging	0.90
R1657:Or52n4b	UTSW	7	108,144,584 (GRCm39)	missense	possibly damaging	0.50
R1708:Or52n4b	UTSW	7	108,143,781 (GRCm39)	missense	probably benign	0.04
R4131:Or52n4b	UTSW	7	108,143,744 (GRCm39)	nonsense	probably null
R4772:Or52n4b	UTSW	7	108,144,092 (GRCm39)	missense	probably damaging	0.98
R5009:Or52n4b	UTSW	7	108,144,055 (GRCm39)	missense	probably benign	0.01
R5297:Or52n4b	UTSW	7	108,144,611 (GRCm39)	missense	probably damaging	1.00
R5788:Or52n4b	UTSW	7	108,144,551 (GRCm39)	missense	probably damaging	0.97
R5944:Or52n4b	UTSW	7	108,144,484 (GRCm39)	missense	possibly damaging	0.90
R6522:Or52n4b	UTSW	7	108,144,202 (GRCm39)	missense	probably benign	0.09
R7045:Or52n4b	UTSW	7	108,144,452 (GRCm39)	missense	probably damaging	1.00
R7339:Or52n4b	UTSW	7	108,144,107 (GRCm39)	missense	probably damaging	1.00
R7558:Or52n4b	UTSW	7	108,143,928 (GRCm39)	nonsense	probably null
R7585:Or52n4b	UTSW	7	108,144,598 (GRCm39)	missense	probably damaging	1.00
R9209:Or52n4b	UTSW	7	108,144,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGGATTCCTTACACAGACCCATG -3'
(R):5'- ACTTGGCTACAGACATGTGG -3'

Sequencing Primer
(F):5'- ACAGACCCATGTACTACTTTTTAGC -3'
(R):5'- TGGCTACAGACATGTGGTCACAG -3'

Posted On

2014-10-15