Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Or56a3b'

502790

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

044334-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104770666-104771613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104771377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 238 (V238L)

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: V238L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: V238L

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

noncoding transcript
Transcript: ENSMUST00000215180

Predicted Effect

probably benign
Transcript: ENSMUST00000215517
AA Change: V238L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000215564
AA Change: V238L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000216247
AA Change: V238L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,400,816 (GRCm39)	V238A	probably benign	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,274,104 (GRCm39)	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mboat2	T	A	12: 24,996,637 (GRCm39)	S213R	probably benign	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,232,762 (GRCm39)	D222E	probably benign	Het
Slc36a4	T	A	9: 15,638,172 (GRCm39)	C199*	probably null	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	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
R7054:Or56a3b	UTSW	7	104,771,170 (GRCm39)	nonsense	probably null
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'- TCTGTGCCAACATGTCCGTC -3'
(R):5'- AGTTGGCCTGTTTACCACCC -3'

Sequencing Primer
(F):5'- GTGCCAACATGTCCGTCTCTAG -3'
(R):5'- CTGAGTTCTTACCCCATAAACAATG -3'

Posted On

2018-02-27