Mutagenetix > Incidental Mutation

Incidental Mutation 'R7054:Or56a3b'

547780

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

045151-MU

Accession Numbers

Essential gene?

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

Stock #

R7054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104770666-104771613 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 104771170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 169 (R169*)

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 null
Transcript: ENSMUST00000098157
AA Change: R169*

SMART Domains

Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: R169*

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 null
Transcript: ENSMUST00000215517
AA Change: R169*

Predicted Effect

probably null
Transcript: ENSMUST00000215564
AA Change: R169*

Predicted Effect

probably null
Transcript: ENSMUST00000216247
AA Change: R169*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,486 (GRCm39)	H44L	unknown	Het
Abcc3	T	C	11: 94,256,051 (GRCm39)	K478R	probably benign	Het
Ank2	A	T	3: 126,736,952 (GRCm39)		probably benign	Het
Apod	A	G	16: 31,129,950 (GRCm39)	V2A	probably benign	Het
Armh4	C	A	14: 50,011,155 (GRCm39)	S184I	probably damaging	Het
Aspg	T	A	12: 112,092,824 (GRCm39)	D530E	probably damaging	Het
Atxn7	A	T	14: 14,100,878 (GRCm38)	T855S	probably benign	Het
Blmh	G	C	11: 76,859,451 (GRCm39)	G351R	probably damaging	Het
Cc2d2a	C	T	5: 43,857,321 (GRCm39)	R454*	probably null	Het
Cenpp	T	C	13: 49,619,233 (GRCm39)	E188G	probably damaging	Het
Cimip3	A	G	17: 47,748,114 (GRCm39)		probably null	Het
Creg2	T	C	1: 39,662,376 (GRCm39)	E252G	probably benign	Het
Dot1l	A	G	10: 80,622,857 (GRCm39)	Y636C	probably damaging	Het
Dpy30	A	G	17: 74,614,835 (GRCm39)	I36T	probably benign	Het
Eed	A	G	7: 89,613,935 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,353 (GRCm39)	D351G	unknown	Het
Fra10ac1	C	T	19: 38,212,567 (GRCm39)		probably benign	Het
Gdpd4	T	A	7: 97,623,136 (GRCm39)	I249N	probably damaging	Het
Glb1l2	A	T	9: 26,676,423 (GRCm39)	V600D	probably null	Het
Gm13889	A	T	2: 93,787,459 (GRCm39)		probably benign	Het
Gm17654	T	A	14: 43,813,327 (GRCm39)	N188Y		Het
Gm3327	T	C	14: 44,363,732 (GRCm39)	F112S		Het
H2-Ab1	T	C	17: 34,482,316 (GRCm39)	S11P	probably benign	Het
Hcn4	T	C	9: 58,763,000 (GRCm39)	S522P	unknown	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hoxa1	A	G	6: 52,135,180 (GRCm39)	S8P	probably damaging	Het
Hoxd13	A	G	2: 74,499,369 (GRCm39)	Y239C	probably damaging	Het
Ifih1	T	A	2: 62,440,859 (GRCm39)	I485L	probably benign	Het
Ift52	G	A	2: 162,871,716 (GRCm39)	V183M	probably damaging	Het
Ikbkb	A	G	8: 23,161,658 (GRCm39)	V410A	possibly damaging	Het
Il22ra1	G	A	4: 135,478,473 (GRCm39)	V515I	probably benign	Het
Klk1b3	A	T	7: 43,850,863 (GRCm39)	I132F	probably damaging	Het
Limk2	T	C	11: 3,305,448 (GRCm39)	T206A	possibly damaging	Het
Llph	A	T	10: 120,067,240 (GRCm39)		probably benign	Het
Lrrc26	T	A	2: 25,180,087 (GRCm39)	D29E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfhas1	T	C	8: 36,055,792 (GRCm39)	V89A	probably benign	Het
Mycbp2	G	A	14: 103,393,534 (GRCm39)	T2899I	possibly damaging	Het
Nckap5	A	T	1: 126,186,449 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,275,619 (GRCm39)	D530G	probably null	Het
Or10ag55-ps1	T	A	2: 87,114,775 (GRCm39)	M47K	probably benign	Het
Pax4	A	G	6: 28,446,322 (GRCm39)	I57T	probably damaging	Het
Peg12	T	C	7: 62,113,711 (GRCm39)	I129V	possibly damaging	Het
Pex6	G	A	17: 47,031,447 (GRCm39)	A416T	probably benign	Het
Pgghg	G	A	7: 140,524,631 (GRCm39)	R326H	probably benign	Het
Pgk2	T	A	17: 40,519,366 (GRCm39)	M21L	probably benign	Het
Polh	A	T	17: 46,509,642 (GRCm39)	W64R	probably benign	Het
Rassf7	T	A	7: 140,797,556 (GRCm39)	H256Q	probably benign	Het
Rc3h2	A	G	2: 37,265,258 (GRCm39)	M1184T	probably benign	Het
Ror1	A	T	4: 100,299,436 (GRCm39)	E936D	probably benign	Het
Skic3	G	A	13: 76,283,079 (GRCm39)	A769T	probably damaging	Het
Slco1b2	A	T	6: 141,617,974 (GRCm39)	T440S	probably damaging	Het
Specc1	T	A	11: 62,008,604 (GRCm39)	V40E	probably damaging	Het
Tarbp1	T	A	8: 127,201,234 (GRCm39)	S191C	possibly damaging	Het
Timm22	A	G	11: 76,298,071 (GRCm39)	E14G	possibly damaging	Het
Tpp2	T	A	1: 44,022,318 (GRCm39)	D905E	probably damaging	Het
Trav7-5	T	C	14: 53,768,756 (GRCm39)	L108P	probably damaging	Het
Ttc9b	A	G	7: 27,353,667 (GRCm39)	T106A	probably benign	Het
Ttn	T	C	2: 76,545,012 (GRCm39)	S32697G	probably damaging	Het
Usp17la	T	G	7: 104,510,514 (GRCm39)	L373R	probably benign	Het
Vmn1r113	A	G	7: 20,521,427 (GRCm39)	N73S	probably benign	Het
Vmn1r42	T	C	6: 89,822,051 (GRCm39)	T173A	possibly damaging	Het
Vmn2r106	A	G	17: 20,499,182 (GRCm39)	V243A	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Zc3h13	T	C	14: 75,559,227 (GRCm39)	S379P	probably benign	Het
Zfp870	T	C	17: 33,102,456 (GRCm39)	Y292C	probably damaging	Het
Zfp977	A	T	7: 42,229,786 (GRCm39)	N246K	possibly damaging	Het
Zp1	G	A	19: 10,896,104 (GRCm39)	T207M	probably damaging	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
R7186:Or56a3b	UTSW	7	104,771,473 (GRCm39)	missense	probably benign	0.12
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'- ACAGCTTTCTTGCTATGGAATCTTG -3'
(R):5'- CACATGTGCTCAGAGCTTTGG -3'

Sequencing Primer
(F):5'- GCACATTTATGATCATGGCCTTCG -3'
(R):5'- GTCTCAGCACAGCTCTTAGGATAAG -3'

Posted On

2019-05-13