Mutagenetix > Incidental Mutation

Incidental Mutation 'R7186:Or56a3b'

559297

Institutional Source

Beutler Lab

Gene Symbol

Or56a3b

Ensembl Gene

ENSMUSG00000095248

Gene Name

olfactory receptor family 56 subfamily A member 3B

Synonyms

MOR40-14, GA_x6K02T2PBJ9-7750163-7751110, Olfr681

MMRRC Submission

045271-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R7186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104770666-104771613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104771473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 270 (R270G)

Ref Sequence

ENSEMBL: ENSMUSP00000150733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000215564] [ENSMUST00000216247]

AlphaFold

Q3SXH8

Predicted Effect

probably benign
Transcript: ENSMUST00000071242

SMART Domains

Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768

Domain	Start	End	E-Value	Type
Pfam:7tm_4	23	299	1.2e-71	PFAM
Pfam:7TM_GPCR_Srsx	27	297	3.9e-10	PFAM
Pfam:7tm_1	33	283	3.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071242

Predicted Effect

probably benign
Transcript: ENSMUST00000098157
AA Change: R270G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: R270G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	2e-72	PFAM
Pfam:7TM_GPCR_Srsx	39	311	6.1e-10	PFAM
Pfam:7tm_1	45	296	7.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214399

Predicted Effect

probably benign
Transcript: ENSMUST00000215517
AA Change: R270G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000215564
AA Change: R270G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216247
AA Change: R270G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,100 (GRCm39)	I778F	possibly damaging	Het
Adam39	A	T	8: 41,279,349 (GRCm39)	N580I	probably damaging	Het
Adamts20	A	G	15: 94,220,689 (GRCm39)	S1415P	possibly damaging	Het
Adcy2	A	G	13: 68,816,758 (GRCm39)	Y743H	probably damaging	Het
Aldh1a3	A	G	7: 66,055,831 (GRCm39)	V320A	probably damaging	Het
Arid1a	TGCCGCCGCCGCCGCCGCCGCCG	TGCCGCCGCCGCCGCCGCCG	4: 133,480,544 (GRCm39)			Het
Art5	G	T	7: 101,746,536 (GRCm39)	R268S	probably benign	Het
Bfar	T	C	16: 13,510,371 (GRCm39)	V238A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdc23	G	A	18: 34,770,175 (GRCm39)	T408I	probably damaging	Het
Cdh24	G	C	14: 54,870,949 (GRCm39)	P522A	probably benign	Het
Clk4	T	C	11: 51,159,607 (GRCm39)	V61A	probably benign	Het
Clrn2	T	C	5: 45,611,115 (GRCm39)		probably benign	Het
Cyp2j8	T	C	4: 96,363,787 (GRCm39)	D292G	probably benign	Het
Deaf1	T	C	7: 140,907,383 (GRCm39)	E34G	probably benign	Het
Elovl7	A	G	13: 108,408,382 (GRCm39)	E127G	probably damaging	Het
Flg	A	T	3: 93,187,252 (GRCm39)	R235*	probably null	Het
Gbp3	G	A	3: 142,269,923 (GRCm39)	V77M	probably damaging	Het
Gda	A	T	19: 21,372,569 (GRCm39)	F450I	probably benign	Het
Gipc1	A	G	8: 84,390,762 (GRCm39)	E289G	possibly damaging	Het
Gm4924	T	C	10: 82,214,778 (GRCm39)	Y859H	unknown	Het
Gpatch1	A	T	7: 34,994,738 (GRCm39)	D509E	possibly damaging	Het
Gpbp1	A	G	13: 111,577,233 (GRCm39)	V219A	possibly damaging	Het
Gpr107	A	T	2: 31,042,371 (GRCm39)	M1L	possibly damaging	Het
Heg1	T	C	16: 33,552,034 (GRCm39)	F1003L	probably damaging	Het
Hivep1	A	G	13: 42,309,814 (GRCm39)	T685A	probably benign	Het
Hpse	T	A	5: 100,843,395 (GRCm39)	D259V	probably damaging	Het
Ido2	A	T	8: 25,040,826 (GRCm39)		probably null	Het
Ighv14-1	T	C	12: 113,895,649 (GRCm39)	D92G	probably damaging	Het
Krt87	A	T	15: 101,385,083 (GRCm39)		probably null	Het
Lsp1	T	C	7: 142,044,089 (GRCm39)	V278A	probably damaging	Het
Lurap1l	C	A	4: 80,829,747 (GRCm39)	S52R	possibly damaging	Het
Luzp2	A	G	7: 54,485,577 (GRCm39)		probably benign	Het
Micall1	A	G	15: 79,009,575 (GRCm39)	E399G	unknown	Het
Ncapd2	A	G	6: 125,163,119 (GRCm39)	S130P	possibly damaging	Het
Nrg2	A	G	18: 36,178,973 (GRCm39)	V321A	probably benign	Het
Nuf2	T	C	1: 169,352,954 (GRCm39)	H17R	probably damaging	Het
Numb	A	G	12: 83,842,920 (GRCm39)	W419R	probably damaging	Het
Or4d2b	G	A	11: 87,780,591 (GRCm39)	L44F	possibly damaging	Het
Or4f62	T	A	2: 111,986,507 (GRCm39)	D70E	probably damaging	Het
Pde6a	T	A	18: 61,353,678 (GRCm39)	M1K	probably null	Het
Pknox1	C	T	17: 31,822,172 (GRCm39)	A313V	probably damaging	Het
Ppp2ca	T	A	11: 52,010,080 (GRCm39)	N229K	possibly damaging	Het
Ptgdr	A	T	14: 45,096,401 (GRCm39)	C104S	probably damaging	Het
Ralgapa2	C	A	2: 146,230,406 (GRCm39)		probably null	Het
Rfx5	G	T	3: 94,865,659 (GRCm39)	K319N	probably benign	Het
Rnase10	A	T	14: 51,247,242 (GRCm39)	T207S	probably damaging	Het
Rreb1	A	G	13: 38,125,608 (GRCm39)	T1305A	probably benign	Het
Rrp12	C	A	19: 41,859,744 (GRCm39)		probably null	Het
Rubcnl	A	C	14: 75,269,453 (GRCm39)	D37A	possibly damaging	Het
Saxo5	T	C	8: 3,529,049 (GRCm39)	F208S	probably damaging	Het
Scn9a	T	C	2: 66,364,567 (GRCm39)	Y802C	probably damaging	Het
Sec16a	A	T	2: 26,330,715 (GRCm39)	Y433*	probably null	Het
Sgk3	T	A	1: 9,956,227 (GRCm39)	V331D	probably benign	Het
Sirt7	C	T	11: 120,511,311 (GRCm39)	R280H	probably benign	Het
Snx13	G	C	12: 35,142,912 (GRCm39)	R252S	probably damaging	Het
Stk32b	G	T	5: 37,624,125 (GRCm39)	D207E	probably damaging	Het
Sult2a7	C	T	7: 14,203,978 (GRCm39)	V262I	not run	Het
Tcstv7b	C	T	13: 120,702,587 (GRCm39)	L128F	probably damaging	Het
Tent5b	T	A	4: 133,213,518 (GRCm39)	F130I	probably damaging	Het
Tmem33	G	C	5: 67,421,130 (GRCm39)	V35L	possibly damaging	Het
Uba1y	A	G	Y: 825,537 (GRCm39)	I300V	probably benign	Het
Usp32	A	T	11: 84,942,060 (GRCm39)	V344E	probably benign	Het
Usp50	C	T	2: 126,625,218 (GRCm39)		probably benign	Het
Vmn1r238	A	C	18: 3,122,661 (GRCm39)	F251C	probably damaging	Het
Vmn2r74	A	T	7: 85,601,150 (GRCm39)	Y829*	probably null	Het
Wars1	A	G	12: 108,846,982 (GRCm39)	F141L	probably damaging	Het
Zfp879	A	G	11: 50,724,621 (GRCm39)	V145A	probably benign	Het
Zfp934	A	T	13: 62,640,204 (GRCm39)	V56D	probably benign	Het

Other mutations in Or56a3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Or56a3b	APN	7	104,771,614 (GRCm39)	splice site	probably null
IGL01664:Or56a3b	APN	7	104,771,423 (GRCm39)	missense	probably damaging	1.00
IGL02691:Or56a3b	APN	7	104,771,338 (GRCm39)	missense	probably damaging	1.00
IGL02839:Or56a3b	APN	7	104,771,563 (GRCm39)	missense	probably damaging	1.00
R0533:Or56a3b	UTSW	7	104,771,557 (GRCm39)	missense	probably benign	0.11
R1139:Or56a3b	UTSW	7	104,771,180 (GRCm39)	missense	probably damaging	1.00
R1857:Or56a3b	UTSW	7	104,770,751 (GRCm39)	missense	probably benign	0.00
R4153:Or56a3b	UTSW	7	104,771,516 (GRCm39)	missense	probably damaging	0.99
R4391:Or56a3b	UTSW	7	104,770,793 (GRCm39)	missense	possibly damaging	0.60
R4537:Or56a3b	UTSW	7	104,776,227 (GRCm39)	missense	probably damaging	1.00
R4671:Or56a3b	UTSW	7	104,771,513 (GRCm39)	missense	probably damaging	1.00
R4789:Or56a3b	UTSW	7	104,771,520 (GRCm39)	missense	probably null	0.07
R5215:Or56a3b	UTSW	7	104,775,771 (GRCm39)	missense	probably damaging	1.00
R6080:Or56a3b	UTSW	7	104,771,116 (GRCm39)	missense	probably benign	0.19
R6194:Or56a3b	UTSW	7	104,771,377 (GRCm39)	missense	probably benign	0.07
R7054:Or56a3b	UTSW	7	104,771,170 (GRCm39)	nonsense	probably null
R7528:Or56a3b	UTSW	7	104,771,071 (GRCm39)	missense	probably damaging	1.00
R8035:Or56a3b	UTSW	7	104,770,757 (GRCm39)	missense	probably damaging	1.00
R8364:Or56a3b	UTSW	7	104,770,910 (GRCm39)	missense	probably damaging	1.00
R8433:Or56a3b	UTSW	7	104,770,931 (GRCm39)	missense	probably damaging	1.00
R8468:Or56a3b	UTSW	7	104,770,685 (GRCm39)	missense	probably benign
R9001:Or56a3b	UTSW	7	104,771,447 (GRCm39)	missense	probably damaging	1.00
R9129:Or56a3b	UTSW	7	104,771,223 (GRCm39)	missense	probably benign	0.00
R9453:Or56a3b	UTSW	7	104,770,817 (GRCm39)	missense
R9705:Or56a3b	UTSW	7	104,770,841 (GRCm39)	missense	probably damaging	1.00
Z1176:Or56a3b	UTSW	7	104,771,329 (GRCm39)	missense	probably damaging	1.00
Z1176:Or56a3b	UTSW	7	104,771,327 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGATGTCACTGTCAACCGTC -3'
(R):5'- ACTATGAATGTAGAGCTGCAGTTG -3'

Sequencing Primer
(F):5'- ACTTTGCTGGGATCAGACC -3'
(R):5'- GCAGTTGGCCTGTTTACCAC -3'

Posted On

2019-06-26