Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Or56b2'

514329

Institutional Source

Beutler Lab

Gene Symbol

Or56b2

Ensembl Gene

ENSMUSG00000073920

Gene Name

olfactory receptor family 56 subfamily B member 2

Synonyms

Olfr661, MOR40-4, GA_x6K02T2PBJ9-7316375-7317334

MMRRC Submission

044492-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104337224-104338183 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104337378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 52 (V52E)

Ref Sequence

ENSEMBL: ENSMUSP00000151208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098168] [ENSMUST00000214876]

AlphaFold

Q99NH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098168
AA Change: V52E

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095770
Gene: ENSMUSG00000073920
AA Change: V52E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	5.9e-74	PFAM
Pfam:7TM_GPCR_Srsx	41	312	2e-9	PFAM
Pfam:7tm_1	47	297	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211165

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214876
AA Change: V52E

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215864

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly damaging	Het

Other mutations in Or56b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Or56b2	APN	7	104,337,588 (GRCm39)	missense	probably benign	0.00
IGL01578:Or56b2	APN	7	104,338,052 (GRCm39)	missense	probably benign	0.01
IGL01595:Or56b2	APN	7	104,337,285 (GRCm39)	missense	possibly damaging	0.78
IGL01732:Or56b2	APN	7	104,337,543 (GRCm39)	missense	possibly damaging	0.64
IGL02086:Or56b2	APN	7	104,337,634 (GRCm39)	missense	probably benign	0.38
IGL02421:Or56b2	APN	7	104,337,740 (GRCm39)	missense	probably benign	0.00
IGL02874:Or56b2	APN	7	104,337,230 (GRCm39)	missense	probably benign	0.16
IGL03120:Or56b2	APN	7	104,337,609 (GRCm39)	missense	probably benign	0.28
R0735:Or56b2	UTSW	7	104,338,026 (GRCm39)	missense	probably damaging	0.97
R1246:Or56b2	UTSW	7	104,337,371 (GRCm39)	missense	possibly damaging	0.69
R1654:Or56b2	UTSW	7	104,337,420 (GRCm39)	missense	probably benign	0.12
R1994:Or56b2	UTSW	7	104,337,690 (GRCm39)	missense	probably benign	0.12
R3686:Or56b2	UTSW	7	104,337,599 (GRCm39)	missense	probably benign	0.00
R5140:Or56b2	UTSW	7	104,338,107 (GRCm39)	missense	probably benign	0.01
R5627:Or56b2	UTSW	7	104,337,377 (GRCm39)	missense	probably benign	0.02
R8810:Or56b2	UTSW	7	104,337,387 (GRCm39)	missense	probably damaging	0.97
R8954:Or56b2	UTSW	7	104,337,900 (GRCm39)	nonsense	probably null
R9261:Or56b2	UTSW	7	104,337,260 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCTTGTCTACATCCAACACTG -3'
(R):5'- TGGCATACATCTGAGCAAAGC -3'

Sequencing Primer
(F):5'- TGTCACACAGATAATCAGGACTG -3'
(R):5'- CACTCAGGGAGGCTGATGTTG -3'

Posted On

2018-04-27