Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Or52n2b'

573816

Institutional Source

Beutler Lab

Gene Symbol

Or52n2b

Ensembl Gene

ENSMUSG00000056782

Gene Name

olfactory receptor family 52 subfamily N member 2B

Synonyms

MOR34-2, GA_x6K02T2PBJ9-7546146-7545166, Olfr667, MOR34-11

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104565521-104566501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104565558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 315 (S315N)

Ref Sequence

ENSEMBL: ENSMUSP00000150340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071362] [ENSMUST00000217177]

AlphaFold

Q7TRP4

Predicted Effect

probably benign
Transcript: ENSMUST00000071362
AA Change: S315N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100470
Gene: ENSMUSG00000056782
AA Change: S315N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	4.9e-102	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1.2e-8	PFAM
Pfam:7tm_1	43	295	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217177
AA Change: S315N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	Het

Other mutations in Or52n2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02707:Or52n2b	APN	7	104,565,859 (GRCm39)	missense	probably damaging	1.00
R0457:Or52n2b	UTSW	7	104,566,180 (GRCm39)	missense	probably benign	0.19
R0684:Or52n2b	UTSW	7	104,565,841 (GRCm39)	missense	probably benign	0.21
R1343:Or52n2b	UTSW	7	104,565,834 (GRCm39)	missense	probably damaging	1.00
R1401:Or52n2b	UTSW	7	104,565,963 (GRCm39)	missense	probably damaging	1.00
R1415:Or52n2b	UTSW	7	104,565,543 (GRCm39)	missense	probably benign	0.03
R1644:Or52n2b	UTSW	7	104,566,015 (GRCm39)	missense	probably benign	0.02
R1907:Or52n2b	UTSW	7	104,566,272 (GRCm39)	missense	probably damaging	0.99
R2063:Or52n2b	UTSW	7	104,565,982 (GRCm39)	missense	probably benign	0.02
R3774:Or52n2b	UTSW	7	104,566,113 (GRCm39)	missense	probably benign	0.01
R4751:Or52n2b	UTSW	7	104,565,617 (GRCm39)	nonsense	probably null
R4958:Or52n2b	UTSW	7	104,565,668 (GRCm39)	missense	probably damaging	0.97
R4960:Or52n2b	UTSW	7	104,565,915 (GRCm39)	missense	probably benign	0.02
R5362:Or52n2b	UTSW	7	104,565,834 (GRCm39)	missense	probably damaging	1.00
R5988:Or52n2b	UTSW	7	104,566,125 (GRCm39)	missense	probably damaging	0.98
R8169:Or52n2b	UTSW	7	104,565,619 (GRCm39)	missense	possibly damaging	0.60
R8517:Or52n2b	UTSW	7	104,565,681 (GRCm39)	missense	possibly damaging	0.80
R8722:Or52n2b	UTSW	7	104,565,708 (GRCm39)	missense	probably benign	0.03
R9461:Or52n2b	UTSW	7	104,565,583 (GRCm39)	missense	probably benign	0.06
Z1088:Or52n2b	UTSW	7	104,565,873 (GRCm39)	missense	probably benign	0.06
Z1177:Or52n2b	UTSW	7	104,566,326 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTGCTAAACCATGCATTTTGTG -3'
(R):5'- TTGTGATCACTTATGTGCCTGC -3'

Sequencing Primer
(F):5'- GCTGACACCATTCACCTT -3'
(R):5'- CATCCACATCATAGTGGC -3'

Posted On

2019-09-13