Mutagenetix > Incidental Mutation

Incidental Mutation 'R5719:Or8b4'

451355

Institutional Source

Beutler Lab

Gene Symbol

Or8b4

Ensembl Gene

ENSMUSG00000066747

Gene Name

olfactory receptor family 8 subfamily B member 4

Synonyms

MOR163-1, GA_x6K02T2PVTD-31600511-31601440, Olfr878

MMRRC Submission

043339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R5719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37829844-37830908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37830647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 236 (E236D)

Ref Sequence

ENSEMBL: ENSMUSP00000083228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086061] [ENSMUST00000212878] [ENSMUST00000214263] [ENSMUST00000216723]

AlphaFold

Q9EQA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000086061
AA Change: E236D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083228
Gene: ENSMUSG00000066747
AA Change: E236D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	312	1.4e-46	PFAM
Pfam:7tm_1	46	294	5.6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212878
AA Change: E231D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214263
AA Change: E231D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214813

Predicted Effect

probably damaging
Transcript: ENSMUST00000216723
AA Change: E231D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130051J06Rik	C	T	15: 95,688,641 (GRCm39)		probably benign	Het
A630001G21Rik	T	A	1: 85,651,106 (GRCm39)	R110W	probably benign	Het
Abca4	T	C	3: 121,928,915 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,241,894 (GRCm39)	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,652,276 (GRCm39)	F273V	probably benign	Het
Adam22	T	C	5: 8,417,217 (GRCm39)	D75G	probably benign	Het
Ash1l	C	A	3: 88,961,805 (GRCm39)	D2392E	possibly damaging	Het
Ash1l	T	C	3: 88,965,933 (GRCm39)	I2445T	probably damaging	Het
Bltp2	T	A	11: 78,164,071 (GRCm39)	H1137Q	probably damaging	Het
Cacna2d2	A	G	9: 107,401,851 (GRCm39)	I762V	probably benign	Het
Ccdc127	T	A	13: 74,505,187 (GRCm39)		probably benign	Het
Ccdc91	C	G	6: 147,477,001 (GRCm39)	L230V	unknown	Het
Cdk13	A	G	13: 17,894,240 (GRCm39)	I1129T	probably damaging	Het
Cnot1	C	T	8: 96,470,924 (GRCm39)	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,080,207 (GRCm39)	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,823,891 (GRCm39)	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,507,761 (GRCm39)	V1182D	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam234a	T	A	17: 26,433,627 (GRCm39)	Q399L	possibly damaging	Het
Fyb1	A	T	15: 6,610,350 (GRCm39)	K308*	probably null	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm10309	A	T	17: 86,806,421 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417 (GRCm39)		noncoding transcript	Het
Gm6309	A	T	5: 146,104,992 (GRCm39)	V307D	probably benign	Het
Gm9871	T	A	6: 101,773,148 (GRCm39)		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Herc3	T	A	6: 58,871,528 (GRCm39)	V70E	possibly damaging	Het
Hes7	A	G	11: 69,012,415 (GRCm39)	E41G	probably damaging	Het
Ifi27l2b	T	C	12: 103,422,046 (GRCm39)	D106G	unknown	Het
Igfbp6	A	T	15: 102,056,616 (GRCm39)	Y184F	probably damaging	Het
Isyna1	A	G	8: 71,047,352 (GRCm39)	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,938,563 (GRCm39)	T162K	possibly damaging	Het
Krt36	T	C	11: 99,994,987 (GRCm39)	D195G	possibly damaging	Het
Lrwd1	A	T	5: 136,161,093 (GRCm39)		probably null	Het
Lsg1	C	T	16: 30,380,593 (GRCm39)	A615T	probably benign	Het
Myo5a	A	T	9: 75,059,213 (GRCm39)	E480D	probably damaging	Het
Myrf	T	A	19: 10,194,087 (GRCm39)	D690V	probably damaging	Het
N4bp1	T	C	8: 87,578,312 (GRCm39)	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,781,589 (GRCm39)	A607T	probably damaging	Het
Nuak1	A	T	10: 84,245,584 (GRCm39)	I87N	probably damaging	Het
Odad2	G	T	18: 7,211,496 (GRCm39)	Q793K	probably benign	Het
Or5p66	T	G	7: 107,885,599 (GRCm39)	T245P	probably damaging	Het
Or5w11	T	C	2: 87,459,475 (GRCm39)		probably null	Het
Osbpl9	T	A	4: 108,919,763 (GRCm39)	R689*	probably null	Het
Ppargc1b	T	A	18: 61,440,639 (GRCm39)	M744L	probably benign	Het
Prss40	A	T	1: 34,591,598 (GRCm39)		probably benign	Het
Ptprd	T	A	4: 75,972,839 (GRCm39)		probably null	Het
Rft1	T	C	14: 30,385,183 (GRCm39)		probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rnaset2a	T	C	17: 8,350,879 (GRCm39)	Y167C	probably damaging	Het
Schip1	T	C	3: 68,315,560 (GRCm39)		probably benign	Het
Scn5a	A	C	9: 119,359,118 (GRCm39)	L643R	possibly damaging	Het
Shroom3	T	A	5: 93,090,877 (GRCm39)	M1128K	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,252,257 (GRCm39)	L18P	probably benign	Het
Slc22a3	C	T	17: 12,642,691 (GRCm39)	V509M	probably damaging	Het
Slc7a5	A	C	8: 122,610,381 (GRCm39)	F478V	probably benign	Het
Smc1b	T	A	15: 84,980,859 (GRCm39)	N803I	probably benign	Het
Snf8	T	A	11: 95,932,551 (GRCm39)	N115K	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Tmem248	T	A	5: 130,258,429 (GRCm39)	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,506,793 (GRCm39)	S90G	probably damaging	Het
Top3b	T	C	16: 16,703,700 (GRCm39)	V285A	probably damaging	Het
Tsen15	T	C	1: 152,247,534 (GRCm39)	T153A	probably damaging	Het
Usp34	T	G	11: 23,304,846 (GRCm39)	S360A	probably benign	Het
Wdr24	T	C	17: 26,047,314 (GRCm39)		probably null	Het
Zbtb2	G	A	10: 4,319,456 (GRCm39)	T190I	probably benign	Het
Zranb3	T	C	1: 127,891,613 (GRCm39)	S788G	probably benign	Het

Other mutations in Or8b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Or8b4	APN	9	37,830,346 (GRCm39)	missense	probably damaging	1.00
IGL01354:Or8b4	APN	9	37,830,840 (GRCm39)	missense	possibly damaging	0.74
R0399:Or8b4	UTSW	9	37,830,849 (GRCm39)	missense	possibly damaging	0.85
R1537:Or8b4	UTSW	9	37,830,570 (GRCm39)	missense	probably benign	0.24
R3737:Or8b4	UTSW	9	37,829,937 (GRCm39)	splice site	probably benign
R4035:Or8b4	UTSW	9	37,829,937 (GRCm39)	splice site	probably benign
R4675:Or8b4	UTSW	9	37,830,882 (GRCm39)	makesense	probably null
R4700:Or8b4	UTSW	9	37,830,217 (GRCm39)	missense	possibly damaging	0.77
R5824:Or8b4	UTSW	9	37,830,861 (GRCm39)	missense	probably benign	0.00
R5940:Or8b4	UTSW	9	37,830,733 (GRCm39)	missense	probably damaging	1.00
R6116:Or8b4	UTSW	9	37,829,955 (GRCm39)	start codon destroyed	probably null	0.94
R6705:Or8b4	UTSW	9	37,830,080 (GRCm39)	missense	probably damaging	1.00
R7075:Or8b4	UTSW	9	37,830,370 (GRCm39)	missense	probably benign	0.09
R7470:Or8b4	UTSW	9	37,830,592 (GRCm39)	missense	probably damaging	1.00
R8057:Or8b4	UTSW	9	37,830,460 (GRCm39)	missense	probably benign	0.00
R9102:Or8b4	UTSW	9	37,829,992 (GRCm39)	missense	probably damaging	1.00
R9204:Or8b4	UTSW	9	37,830,670 (GRCm39)	missense	probably damaging	1.00
R9254:Or8b4	UTSW	9	37,830,447 (GRCm39)	missense	probably damaging	1.00
R9379:Or8b4	UTSW	9	37,830,447 (GRCm39)	missense	probably damaging	1.00
R9504:Or8b4	UTSW	9	37,830,163 (GRCm39)	missense	probably damaging	1.00
R9711:Or8b4	UTSW	9	37,830,066 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATACTGGAAGCATGCTGAC -3'
(R):5'- ACTATAGATCAGTGGGTTAAGCATG -3'

Sequencing Primer
(F):5'- TGGAAGCATGCTGACACTTAC -3'
(R):5'- TCAGTGGGTTAAGCATGGGAAC -3'

Posted On

2017-01-03