Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Or4b1d'

355536

Institutional Source

Beutler Lab

Gene Symbol

Or4b1d

Ensembl Gene

ENSMUSG00000075066

Gene Name

olfactory receptor family 4 subfamily B member 1D

Synonyms

Olfr32, MOR227-9_p, MOR227-7P, MTPCR05, GA_x6K02T2Q125-51573576-51572650

MMRRC Submission

041945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89966617-89972640 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 89968593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 297 (K297*)

Ref Sequence

ENSEMBL: ENSMUSP00000149175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099755] [ENSMUST00000099755] [ENSMUST00000213293] [ENSMUST00000214973] [ENSMUST00000215153] [ENSMUST00000215659] [ENSMUST00000215765]

AlphaFold

Q7TQZ0

Predicted Effect

probably null
Transcript: ENSMUST00000099755
AA Change: K297*

SMART Domains

Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: K297*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.7e-52	PFAM
Pfam:7tm_1	38	284	6.8e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099755
AA Change: K297*

SMART Domains

Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: K297*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.7e-52	PFAM
Pfam:7tm_1	38	284	6.8e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213293

Predicted Effect

probably null
Transcript: ENSMUST00000214973

Predicted Effect

probably null
Transcript: ENSMUST00000215153
AA Change: K297*

Predicted Effect

probably null
Transcript: ENSMUST00000215659
AA Change: K297*

Predicted Effect

probably null
Transcript: ENSMUST00000215765
AA Change: K297*

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,979,586 (GRCm39)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,587,055 (GRCm39)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,311,051 (GRCm39)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,313,012 (GRCm39)		probably null	Het
Capn1	T	A	19: 6,044,761 (GRCm39)	K504*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,804,332 (GRCm39)	K917R	probably damaging	Het
Cp	A	T	3: 20,029,049 (GRCm39)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,288,684 (GRCm39)	D266G	probably damaging	Het
Dhodh	C	G	8: 110,333,048 (GRCm39)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,354,189 (GRCm39)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm39)	M84K	probably benign	Het
Fbln7	A	G	2: 128,722,345 (GRCm39)		probably null	Het
Fbxw11	C	T	11: 32,592,820 (GRCm39)		probably benign	Het
Flnc	C	A	6: 29,443,447 (GRCm39)	P543T	probably damaging	Het
Grid1	T	C	14: 34,748,737 (GRCm39)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,559,534 (GRCm39)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,487,246 (GRCm39)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,163 (GRCm39)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,576,825 (GRCm39)	C592Y	probably damaging	Het
Jph1	T	A	1: 17,067,729 (GRCm39)	I653F	probably damaging	Het
Kcnj3	A	G	2: 55,484,918 (GRCm39)	K339E	probably benign	Het
Kcp	G	A	6: 29,493,196 (GRCm39)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,444,108 (GRCm39)	V171E	possibly damaging	Het
Lck	G	T	4: 129,442,765 (GRCm39)	N452K	possibly damaging	Het
Madd	A	G	2: 90,990,673 (GRCm39)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,430,500 (GRCm39)	D94G	probably benign	Het
Me2	T	A	18: 73,934,930 (GRCm39)	M38L	probably benign	Het
Muc2	A	C	7: 141,306,082 (GRCm39)	D257A	probably damaging	Het
Myh11	T	C	16: 14,018,566 (GRCm39)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,158,920 (GRCm39)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,379,824 (GRCm39)	E303G	probably benign	Het
Nedd1	C	T	10: 92,555,444 (GRCm39)	V14I	probably benign	Het
Nwd1	T	G	8: 73,393,958 (GRCm39)	V407G	probably damaging	Het
Or2h15	A	C	17: 38,441,748 (GRCm39)	C112G	probably damaging	Het
Or4k15c	T	C	14: 50,321,476 (GRCm39)	I221V	probably benign	Het
Or5w13	T	A	2: 87,524,104 (GRCm39)	T41S	probably benign	Het
Or7g29	A	G	9: 19,286,694 (GRCm39)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,024,840 (GRCm39)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,551,583 (GRCm39)	N516S	probably benign	Het
Pramel27	T	C	4: 143,579,530 (GRCm39)	S372P	probably damaging	Het
Prelp	A	G	1: 133,842,485 (GRCm39)	M220T	probably damaging	Het
Prss36	A	G	7: 127,534,787 (GRCm39)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,375,920 (GRCm39)	F59L	probably benign	Het
Rab20	C	T	8: 11,504,485 (GRCm39)	G72R	probably damaging	Het
Rab4a	G	T	8: 124,555,769 (GRCm39)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm39)	Y178*	probably null	Het
Scaf8	C	A	17: 3,247,679 (GRCm39)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,482,201 (GRCm39)	P26S	probably benign	Het
Slc23a1	A	G	18: 35,752,633 (GRCm39)	L548P	probably damaging	Het
Sncaip	A	C	18: 53,039,629 (GRCm39)	T548P	probably benign	Het
Stpg2	C	T	3: 139,023,177 (GRCm39)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,103,309 (GRCm39)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,960,875 (GRCm39)	F242I	probably damaging	Het
Tnks1bp1	G	A	2: 84,902,066 (GRCm39)	R992Q	probably damaging	Het
Tom1l1	T	G	11: 90,537,675 (GRCm39)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm39)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,221,129 (GRCm39)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,668,858 (GRCm39)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,479,636 (GRCm39)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,048,314 (GRCm39)	I130F	probably benign	Het
Wdr72	A	T	9: 74,086,837 (GRCm39)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,354,362 (GRCm39)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,674,692 (GRCm39)	G482E	probably benign	Het

Other mutations in Or4b1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Or4b1d	APN	2	89,969,418 (GRCm39)	missense	probably benign	0.30
IGL01976:Or4b1d	APN	2	89,969,268 (GRCm39)	missense	probably damaging	1.00
IGL02076:Or4b1d	APN	2	89,969,159 (GRCm39)	missense	probably damaging	1.00
IGL03030:Or4b1d	APN	2	89,969,006 (GRCm39)	missense	possibly damaging	0.93
IGL03235:Or4b1d	APN	2	89,969,414 (GRCm39)	missense	possibly damaging	0.88
IGL03410:Or4b1d	APN	2	89,969,489 (GRCm39)	start gained	probably benign
R1240:Or4b1d	UTSW	2	89,969,157 (GRCm39)	missense	possibly damaging	0.48
R1511:Or4b1d	UTSW	2	89,968,748 (GRCm39)	missense	probably benign	0.13
R1602:Or4b1d	UTSW	2	89,969,399 (GRCm39)	missense	probably damaging	1.00
R1828:Or4b1d	UTSW	2	89,968,931 (GRCm39)	missense	probably damaging	0.99
R2023:Or4b1d	UTSW	2	89,969,200 (GRCm39)	nonsense	probably null
R2177:Or4b1d	UTSW	2	89,968,808 (GRCm39)	missense	possibly damaging	0.70
R2679:Or4b1d	UTSW	2	89,968,889 (GRCm39)	missense	possibly damaging	0.93
R4490:Or4b1d	UTSW	2	89,969,261 (GRCm39)	missense	probably damaging	0.97
R4585:Or4b1d	UTSW	2	89,968,558 (GRCm39)	missense	probably benign	0.01
R4586:Or4b1d	UTSW	2	89,968,558 (GRCm39)	missense	probably benign	0.01
R4649:Or4b1d	UTSW	2	89,969,432 (GRCm39)	missense	probably damaging	0.99
R4688:Or4b1d	UTSW	2	89,969,343 (GRCm39)	missense	possibly damaging	0.80
R5245:Or4b1d	UTSW	2	89,968,606 (GRCm39)	missense	probably damaging	1.00
R5509:Or4b1d	UTSW	2	89,969,236 (GRCm39)	missense	probably damaging	1.00
R5991:Or4b1d	UTSW	2	89,968,578 (GRCm39)	nonsense	probably null
R6004:Or4b1d	UTSW	2	89,969,343 (GRCm39)	missense	probably benign	0.32
R6128:Or4b1d	UTSW	2	89,968,954 (GRCm39)	nonsense	probably null
R6519:Or4b1d	UTSW	2	89,969,156 (GRCm39)	missense	possibly damaging	0.90
R7472:Or4b1d	UTSW	2	89,968,668 (GRCm39)	missense	probably damaging	1.00
R7892:Or4b1d	UTSW	2	89,968,836 (GRCm39)	missense	probably benign	0.00
R8017:Or4b1d	UTSW	2	89,969,170 (GRCm39)	missense	probably benign	0.02
R8046:Or4b1d	UTSW	2	89,969,159 (GRCm39)	missense	probably damaging	1.00
R8464:Or4b1d	UTSW	2	89,968,947 (GRCm39)	missense	possibly damaging	0.67
R8712:Or4b1d	UTSW	2	89,969,114 (GRCm39)	missense	probably damaging	1.00
R8998:Or4b1d	UTSW	2	89,969,472 (GRCm39)	missense	probably benign
R9789:Or4b1d	UTSW	2	89,969,004 (GRCm39)	missense	probably benign	0.23
X0066:Or4b1d	UTSW	2	89,968,734 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACACATTAGAGAAGTTCTATTCC -3'
(R):5'- CTCTCACATCATGGTGGTTGTCTTG -3'

Sequencing Primer
(F):5'- CTGATACCTATGACATGATGGAATTC -3'
(R):5'- GTTGTCTTGTTCTTTGGACCTGCC -3'

Posted On

2015-10-21