Mutagenetix > Incidental Mutation

Incidental Mutation 'R2679:Or4b1d'

250698

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

040432-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89966617-89972640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89968889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 198 (V198D)

Ref Sequence

ENSEMBL: ENSMUSP00000150370 (fasta)

Gene Model

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

AlphaFold

Q7TQZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099755
AA Change: V198D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: V198D

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

possibly damaging
Transcript: ENSMUST00000213293
AA Change: V198D

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214973
AA Change: V198D

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215153
AA Change: V198D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215659
AA Change: V198D

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215765
AA Change: V198D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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
Asic2	A	G	11: 81,042,780 (GRCm39)	V171A	probably benign	Het
Atf7ip	A	T	6: 136,543,649 (GRCm39)	I641L	possibly damaging	Het
Atrn	G	A	2: 130,803,595 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,790,544 (GRCm39)	I145T	probably damaging	Het
Bub3	A	G	7: 131,170,454 (GRCm39)		probably null	Het
Catsperb	T	A	12: 101,429,404 (GRCm39)	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,944,613 (GRCm39)	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,901,079 (GRCm39)	Q998K	probably benign	Het
Cep135	A	T	5: 76,772,507 (GRCm39)	M631L	probably benign	Het
Cit	T	C	5: 116,107,174 (GRCm39)	V1102A	probably benign	Het
Col4a4	G	A	1: 82,507,332 (GRCm39)	T249M	unknown	Het
Cpne6	A	T	14: 55,753,786 (GRCm39)	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,485,894 (GRCm39)	I348V	probably benign	Het
Defb28	T	C	2: 152,360,202 (GRCm39)	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,743,344 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,083,910 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,724,825 (GRCm39)	T476A	probably benign	Het
Enpp5	A	G	17: 44,396,279 (GRCm39)	D397G	probably damaging	Het
Eogt	G	A	6: 97,097,761 (GRCm39)	T279I	probably benign	Het
Fnip2	G	A	3: 79,388,233 (GRCm39)	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435 (GRCm39)	T92S	probably damaging	Het
Gm10110	T	A	14: 90,134,852 (GRCm39)		noncoding transcript	Het
Gria2	A	G	3: 80,648,260 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,528,326 (GRCm39)	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspa1b	T	C	17: 35,176,279 (GRCm39)	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,916,372 (GRCm39)	Y46C	probably damaging	Het
Itga3	A	T	11: 94,959,136 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,880,745 (GRCm39)	R552*	probably null	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Muc4	T	A	16: 32,577,846 (GRCm39)	D2374E	unknown	Het
Myl9	T	A	2: 156,622,426 (GRCm39)	L70Q	probably damaging	Het
Nebl	C	T	2: 17,429,402 (GRCm39)	S243N	probably benign	Het
Nfat5	A	G	8: 108,071,546 (GRCm39)	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,827,380 (GRCm39)	D307V	probably damaging	Het
Nrp2	T	C	1: 62,824,237 (GRCm39)	S781P	probably benign	Het
Nub1	C	T	5: 24,897,923 (GRCm39)	T103I	possibly damaging	Het
Or51h5	T	A	7: 102,577,238 (GRCm39)	Y134*	probably null	Het
Pex5l	A	T	3: 33,136,201 (GRCm39)	M6K	probably benign	Het
Pgm3	A	C	9: 86,451,374 (GRCm39)	C93W	probably benign	Het
Pkhd1	A	G	1: 20,279,406 (GRCm39)	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,408,782 (GRCm39)	L2423P	probably damaging	Het
Prkce	A	G	17: 86,483,654 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,494,615 (GRCm39)		probably benign	Het
Ptgis	T	A	2: 167,050,113 (GRCm39)	M339L	probably benign	Het
Pxdn	T	C	12: 30,025,568 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,363,451 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,581,430 (GRCm39)	S1275G	probably benign	Het
Rnf213	C	A	11: 119,350,764 (GRCm39)		probably null	Het
Rtn4rl1	A	T	11: 75,156,552 (GRCm39)	E328V	probably benign	Het
Saraf	C	T	8: 34,632,428 (GRCm39)	T169I	probably damaging	Het
Sbk2	T	A	7: 4,960,119 (GRCm39)		probably null	Het
Setd1a	T	G	7: 127,394,896 (GRCm39)		probably benign	Het
Sit1	A	G	4: 43,483,157 (GRCm39)	Y73H	probably damaging	Het
Slc44a4	T	C	17: 35,142,399 (GRCm39)		probably benign	Het
Spopfm1	A	T	3: 94,173,217 (GRCm39)	Y75F	probably damaging	Het
Tas2r125	A	G	6: 132,887,190 (GRCm39)	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,052,528 (GRCm39)		probably null	Het
Tcf7l1	G	T	6: 72,604,403 (GRCm39)	H580Q	probably benign	Het
Tead1	T	G	7: 112,456,053 (GRCm39)	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947 (GRCm38)	G29D	probably damaging	Het
Trpv4	A	T	5: 114,773,613 (GRCm39)	C250S	probably damaging	Het
U2surp	A	C	9: 95,358,285 (GRCm39)	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,138,360 (GRCm39)		probably benign	Het
Ubl7	A	G	9: 57,821,882 (GRCm39)	D77G	probably damaging	Het
Vmn1r91	T	C	7: 19,835,983 (GRCm39)	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,933,131 (GRCm39)	R230S	possibly damaging	Het
Wdfy3	T	A	5: 102,017,902 (GRCm39)	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,973,895 (GRCm39)	A341V	probably benign	Het
Zfp512	C	T	5: 31,622,798 (GRCm39)	A33V	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
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
R4694:Or4b1d	UTSW	2	89,968,593 (GRCm39)	nonsense	probably null
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'- ACAAGCTTGTCTTCAGTGTAGG -3'
(R):5'- TGAGTAGGCCCAAATGTCACC -3'

Sequencing Primer
(F):5'- AGGTGGAGGCAGGTCTC -3'
(R):5'- CCCAAATGTCACCGGCTG -3'

Posted On

2014-12-04