Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Or4b1'

574829

Institutional Source

Beutler Lab

Gene Symbol

Or4b1

Ensembl Gene

ENSMUSG00000075065

Gene Name

olfactory receptor family 4 subfamily B member 1

Synonyms

Olfr1270, GA_x6K02T2Q125-51584440-51583526, MOR227-1

MMRRC Submission

045489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89979363-89980380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89980188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 54 (H54L)

Ref Sequence

ENSEMBL: ENSMUSP00000151124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099754] [ENSMUST00000213946] [ENSMUST00000215578] [ENSMUST00000215975] [ENSMUST00000216354] [ENSMUST00000217139]

AlphaFold

Q8VGP3

Predicted Effect

probably benign
Transcript: ENSMUST00000099754
AA Change: H54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097343
Gene: ENSMUSG00000075065
AA Change: H54L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.3e-54	PFAM
Pfam:7TM_GPCR_Srsx	33	300	7.5e-6	PFAM
Pfam:7tm_1	39	285	2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213946
AA Change: H54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215578
AA Change: H54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215975
AA Change: H54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216354
AA Change: H54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000217139
AA Change: H54L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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
Agfg1	T	C	1: 82,860,030 (GRCm39)	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,157,220 (GRCm39)	E72D	probably benign	Het
Arid1a	G	T	4: 133,408,391 (GRCm39)	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,194 (GRCm39)	H96P	probably damaging	Het
Cast	A	G	13: 74,887,960 (GRCm39)	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,796,610 (GRCm39)	C320S	probably damaging	Het
Cgn	T	A	3: 94,670,362 (GRCm39)	K1031*	probably null	Het
Cnot10	T	C	9: 114,460,894 (GRCm39)	N92S	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,060,593 (GRCm39)	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,739 (GRCm39)	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,742,184 (GRCm39)		probably null	Het
Dtnb	T	A	12: 3,694,272 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,727,309 (GRCm39)	N486D	possibly damaging	Het
Fes	G	A	7: 80,028,410 (GRCm39)	R736C	probably damaging	Het
Galr1	T	G	18: 82,411,990 (GRCm39)	Y292S	probably damaging	Het
Gda	T	A	19: 21,405,988 (GRCm39)	D80V	probably damaging	Het
Ghr	A	G	15: 3,377,054 (GRCm39)	C56R	probably benign	Het
Golgb1	A	G	16: 36,718,909 (GRCm39)	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,217,193 (GRCm39)	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,676,315 (GRCm39)	S43P	probably benign	Het
Gsdmd	A	G	15: 75,738,202 (GRCm39)	E295G	probably damaging	Het
Htatip2	A	G	7: 49,409,534 (GRCm39)	K96R	probably benign	Het
Insm1	T	A	2: 146,064,711 (GRCm39)	F176I	probably benign	Het
Itih1	T	C	14: 30,665,117 (GRCm39)	E36G	probably benign	Het
Jak1	A	G	4: 101,032,379 (GRCm39)	V409A	probably damaging	Het
Knl1	A	G	2: 118,901,073 (GRCm39)	I925V	possibly damaging	Het
Lcmt2	A	G	2: 120,969,185 (GRCm39)	S413P	probably benign	Het
Lmo7	T	C	14: 102,118,389 (GRCm39)	S205P	probably damaging	Het
Lrch3	C	A	16: 32,807,113 (GRCm39)	S462*	probably null	Het
Lrrtm2	T	C	18: 35,346,688 (GRCm39)	I205V	possibly damaging	Het
Mark3	T	G	12: 111,600,223 (GRCm39)	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,942,793 (GRCm39)	G39D	possibly damaging	Het
Msh4	A	G	3: 153,582,382 (GRCm39)	Y497H	probably benign	Het
Msl2	T	A	9: 100,979,316 (GRCm39)	D563E	probably benign	Het
Mta1	G	A	12: 113,095,088 (GRCm39)		probably null	Het
Nalcn	T	A	14: 123,529,272 (GRCm39)	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,853,135 (GRCm39)	L867P	probably benign	Het
Nkapl	T	C	13: 21,652,013 (GRCm39)	D200G	unknown	Het
Nos1	A	C	5: 118,005,583 (GRCm39)	E101A	probably damaging	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,760,398 (GRCm39)	I358T	probably benign	Het
Or11h6	A	G	14: 50,879,852 (GRCm39)	E32G	probably benign	Het
Or13p4	C	T	4: 118,546,859 (GRCm39)	M263I	probably damaging	Het
Or2d2b	A	G	7: 106,705,274 (GRCm39)	S265P	probably benign	Het
Or6c88	A	G	10: 129,406,493 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,680,222 (GRCm39)	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,755,218 (GRCm39)	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,079,537 (GRCm39)	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,142,110 (GRCm39)	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,977,143 (GRCm39)	M109K	probably benign	Het
Plekhn1	T	C	4: 156,318,418 (GRCm39)	N68S	probably benign	Het
Pramel7	T	A	2: 87,321,189 (GRCm39)	D282V	possibly damaging	Het
Pxdn	T	C	12: 30,040,944 (GRCm39)	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,773,546 (GRCm39)	D89G	possibly damaging	Het
Rad17	G	A	13: 100,766,019 (GRCm39)	Q370*	probably null	Het
Robo4	T	C	9: 37,322,277 (GRCm39)	C751R	probably benign	Het
Sez6	A	G	11: 77,844,356 (GRCm39)	T60A	probably damaging	Het
Socs4	A	G	14: 47,527,296 (GRCm39)	H77R	probably benign	Het
Srrm3	T	A	5: 135,881,060 (GRCm39)	M120K	probably benign	Het
Steap4	A	T	5: 8,028,453 (GRCm39)	I344F	probably benign	Het
Stk36	T	A	1: 74,672,725 (GRCm39)	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108 (GRCm39)	Q667L	probably benign	Het
Tspan17	T	C	13: 54,937,466 (GRCm39)	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,711,359 (GRCm39)	Q65*	probably null	Het
Ush2a	A	T	1: 188,465,726 (GRCm39)	I2765F	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,800,264 (GRCm39)	V1954A		Het
Xrn2	T	A	2: 146,884,017 (GRCm39)		probably null	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het

Other mutations in Or4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02648:Or4b1	APN	2	89,979,697 (GRCm39)	missense	possibly damaging	0.61
IGL03034:Or4b1	APN	2	89,980,177 (GRCm39)	missense	probably damaging	1.00
R0726:Or4b1	UTSW	2	89,979,627 (GRCm39)	missense	probably damaging	1.00
R1573:Or4b1	UTSW	2	89,979,068 (GRCm39)	utr 3 prime	probably benign
R1965:Or4b1	UTSW	2	89,979,748 (GRCm39)	missense	probably damaging	0.98
R1966:Or4b1	UTSW	2	89,979,748 (GRCm39)	missense	probably damaging	0.98
R2353:Or4b1	UTSW	2	89,980,062 (GRCm39)	missense	probably damaging	0.98
R3805:Or4b1	UTSW	2	89,978,805 (GRCm39)	utr 3 prime	probably benign
R4606:Or4b1	UTSW	2	89,979,160 (GRCm39)	utr 3 prime	probably benign
R4662:Or4b1	UTSW	2	89,980,222 (GRCm39)	missense	probably damaging	1.00
R6198:Or4b1	UTSW	2	89,979,782 (GRCm39)	missense	probably damaging	1.00
R6596:Or4b1	UTSW	2	89,979,622 (GRCm39)	missense	possibly damaging	0.73
R6957:Or4b1	UTSW	2	89,979,494 (GRCm39)	nonsense	probably null
R7418:Or4b1	UTSW	2	89,979,831 (GRCm39)	missense	probably damaging	1.00
R7454:Or4b1	UTSW	2	89,979,763 (GRCm39)	missense	possibly damaging	0.78
R7935:Or4b1	UTSW	2	89,979,928 (GRCm39)	missense	probably benign	0.00
R9006:Or4b1	UTSW	2	89,980,327 (GRCm39)	missense	probably damaging	1.00
R9157:Or4b1	UTSW	2	89,979,522 (GRCm39)	missense	possibly damaging	0.85
R9454:Or4b1	UTSW	2	89,979,820 (GRCm39)	missense	probably damaging	1.00
R9478:Or4b1	UTSW	2	89,979,595 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAGGTTTGCAGATGGCCAC -3'
(R):5'- TCTCCTCAACTGAATCCATGGC -3'

Sequencing Primer
(F):5'- TTTGCAGATGGCCACATAGC -3'
(R):5'- TCAACTGAATCCATGGCCAGGG -3'

Posted On

2019-10-07