Mutagenetix > Incidental Mutation

Incidental Mutation 'R4763:Or4b13'

357009

Institutional Source

Beutler Lab

Gene Symbol

Or4b13

Ensembl Gene

ENSMUSG00000075063

Gene Name

olfactory receptor family 4 subfamily B member 13

Synonyms

K20, Olfr142, GA_x6K02T2Q125-51607674-51606757, MOR227-2

MMRRC Submission

042404-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90082413-90083330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90082807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 175 (Y175F)

Ref Sequence

ENSEMBL: ENSMUSP00000150216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099752] [ENSMUST00000213968]

AlphaFold

Q60881

Predicted Effect

probably damaging
Transcript: ENSMUST00000099752
AA Change: Y175F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097341
Gene: ENSMUSG00000075063
AA Change: Y175F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.3e-53	PFAM
Pfam:7TM_GPCR_Srsx	33	300	3e-6	PFAM
Pfam:7tm_1	39	285	5.8e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213968
AA Change: Y175F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

97% (73/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	G	9: 98,069,176 (GRCm39)		noncoding transcript	Het
Abhd2	A	G	7: 79,009,879 (GRCm39)	E418G	probably benign	Het
Acox2	G	T	14: 8,241,334 (GRCm38)	H593N	possibly damaging	Het
Adam17	A	G	12: 21,384,016 (GRCm39)	Y495H	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arhgap44	A	G	11: 64,929,991 (GRCm39)	I240T	probably damaging	Het
Atp2c1	T	C	9: 105,295,766 (GRCm39)	T653A	probably damaging	Het
Atxn7l1	G	A	12: 33,408,877 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,463,508 (GRCm39)	V220A	probably damaging	Het
Card14	A	T	11: 119,234,001 (GRCm39)	S864C	probably damaging	Het
Cfap58	C	T	19: 47,971,945 (GRCm39)	A625V	probably damaging	Het
Cfap61	T	C	2: 145,859,287 (GRCm39)	V425A	probably benign	Het
Cfap73	A	G	5: 120,768,294 (GRCm39)	F155L	probably damaging	Het
Cntrl	G	T	2: 35,065,563 (GRCm39)	R2235L	probably damaging	Het
Cxxc1	A	G	18: 74,352,484 (GRCm39)	K355E	probably damaging	Het
Disc1	G	A	8: 125,851,277 (GRCm39)	G387D	probably damaging	Het
Dpf2	T	C	19: 5,952,480 (GRCm39)	Y286C	probably damaging	Het
E2f7	A	T	10: 110,616,710 (GRCm39)	K650M	probably damaging	Het
Fbln2	C	T	6: 91,246,982 (GRCm39)	S1027F	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm6811	A	G	17: 21,314,109 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,284,818 (GRCm39)	K409E	probably damaging	Het
Hamp	T	A	7: 30,641,989 (GRCm39)	R55S	probably damaging	Het
Heatr1	C	T	13: 12,445,811 (GRCm39)	T1596I	possibly damaging	Het
Hells	T	C	19: 38,945,643 (GRCm39)	V601A	probably damaging	Het
Ighv5-8	A	G	12: 113,617,161 (GRCm39)	S34P	probably damaging	Het
Lig4	T	C	8: 10,022,955 (GRCm39)	D275G	probably damaging	Het
Meak7	A	G	8: 120,495,122 (GRCm39)	V212A	probably benign	Het
Med6	T	C	12: 81,629,435 (GRCm39)	D59G	probably damaging	Het
Men1	T	C	19: 6,385,102 (GRCm39)		probably null	Het
Mlec	G	A	5: 115,295,972 (GRCm39)	A41V	unknown	Het
Ncoa1	G	A	12: 4,325,297 (GRCm39)	T927I	probably damaging	Het
Neb	T	A	2: 52,127,052 (GRCm39)	K378*	probably null	Het
Neb	T	A	2: 52,216,732 (GRCm39)	K148*	probably null	Het
Or4k41	T	A	2: 111,280,023 (GRCm39)	C179*	probably null	Het
Or5p73	G	A	7: 108,065,393 (GRCm39)	M287I	probably benign	Het
Or8g26	A	G	9: 39,096,256 (GRCm39)	T261A	probably benign	Het
Parp10	C	T	15: 76,117,627 (GRCm39)	V920M	probably damaging	Het
Parp6	C	A	9: 59,538,648 (GRCm39)	P241H	probably damaging	Het
Pcyox1l	A	G	18: 61,830,850 (GRCm39)	Y341H	probably benign	Het
Pfas	A	T	11: 68,881,020 (GRCm39)	D1080E	possibly damaging	Het
Pi4kb	G	T	3: 94,911,720 (GRCm39)		probably benign	Het
Piwil2	C	T	14: 70,614,227 (GRCm39)	V846M	probably damaging	Het
Pkd1l2	A	G	8: 117,746,168 (GRCm39)	F1941L	probably damaging	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Ppp4r1	T	C	17: 66,142,105 (GRCm39)	I720T	possibly damaging	Het
Prr12	A	G	7: 44,697,119 (GRCm39)	L932S	unknown	Het
Rnaseh2a	T	A	8: 85,692,021 (GRCm39)	E84V	probably benign	Het
Rpl18a	G	A	8: 71,348,330 (GRCm39)	R118C	probably benign	Het
Rprm	C	A	2: 53,975,228 (GRCm39)	C30F	possibly damaging	Het
Sbf2	G	T	7: 110,020,124 (GRCm39)	L579I	probably damaging	Het
Sfn	C	A	4: 133,328,656 (GRCm39)	R142L	probably benign	Het
St8sia6	T	C	2: 13,677,341 (GRCm39)	K159E	probably damaging	Het
Sugct	A	T	13: 17,837,372 (GRCm39)	F86L	probably damaging	Het
Tmcc3	T	C	10: 94,415,173 (GRCm39)	S292P	probably damaging	Het
Tmem33	A	T	5: 67,443,479 (GRCm39)	I219F	probably benign	Het
Trav8-1	C	A	14: 53,707,492 (GRCm39)	T44K	possibly damaging	Het
U2surp	A	G	9: 95,393,844 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,819,952 (GRCm39)	L25P	probably damaging	Het
Vmn1r221	G	T	13: 23,401,958 (GRCm39)		noncoding transcript	Het
Vmn1r50	C	T	6: 90,085,062 (GRCm39)	T269I	probably benign	Het
Washc3	A	G	10: 88,055,185 (GRCm39)	D125G	probably damaging	Het
Zfp142	G	A	1: 74,615,671 (GRCm39)	H278Y	probably damaging	Het
Zfp418	A	G	7: 7,184,444 (GRCm39)	N136D	possibly damaging	Het

Other mutations in Or4b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Or4b13	APN	2	90,082,953 (GRCm39)	missense	probably damaging	1.00
IGL01623:Or4b13	APN	2	90,082,953 (GRCm39)	missense	probably damaging	1.00
IGL01810:Or4b13	APN	2	90,082,476 (GRCm39)	nonsense	probably null
IGL01918:Or4b13	APN	2	90,082,675 (GRCm39)	missense	probably damaging	1.00
IGL02619:Or4b13	APN	2	90,082,849 (GRCm39)	missense	probably damaging	0.97
IGL02732:Or4b13	APN	2	90,082,652 (GRCm39)	missense	probably damaging	1.00
IGL02738:Or4b13	APN	2	90,082,699 (GRCm39)	missense	possibly damaging	0.82
IGL02795:Or4b13	APN	2	90,082,906 (GRCm39)	missense	probably damaging	1.00
IGL02830:Or4b13	APN	2	90,083,125 (GRCm39)	missense	probably damaging	1.00
R0601:Or4b13	UTSW	2	90,083,278 (GRCm39)	missense	probably benign	0.05
R2004:Or4b13	UTSW	2	90,083,036 (GRCm39)	missense	probably benign	0.04
R2136:Or4b13	UTSW	2	90,082,597 (GRCm39)	missense	probably damaging	0.98
R2377:Or4b13	UTSW	2	90,083,255 (GRCm39)	missense	probably damaging	1.00
R3615:Or4b13	UTSW	2	90,082,753 (GRCm39)	missense	possibly damaging	0.94
R3616:Or4b13	UTSW	2	90,082,753 (GRCm39)	missense	possibly damaging	0.94
R3777:Or4b13	UTSW	2	90,082,969 (GRCm39)	missense	probably damaging	1.00
R4765:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R5421:Or4b13	UTSW	2	90,083,089 (GRCm39)	missense	probably benign	0.01
R5426:Or4b13	UTSW	2	90,082,955 (GRCm39)	nonsense	probably null
R6063:Or4b13	UTSW	2	90,082,771 (GRCm39)	missense	probably benign	0.40
R6717:Or4b13	UTSW	2	90,082,868 (GRCm39)	missense	probably benign	0.00
R6931:Or4b13	UTSW	2	90,083,121 (GRCm39)	nonsense	probably null
R6936:Or4b13	UTSW	2	90,082,678 (GRCm39)	missense	probably benign	0.17
R7013:Or4b13	UTSW	2	90,082,441 (GRCm39)	missense	possibly damaging	0.87
R7091:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R7247:Or4b13	UTSW	2	90,083,165 (GRCm39)	missense	probably damaging	1.00
R8169:Or4b13	UTSW	2	90,082,442 (GRCm39)	nonsense	probably null
R8345:Or4b13	UTSW	2	90,082,561 (GRCm39)	missense	possibly damaging	0.50
R9222:Or4b13	UTSW	2	90,082,820 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAACAGGATGACCACTGTGATG -3'
(R):5'- GATGGCCTATGACCGCTATG -3'

Sequencing Primer
(F):5'- CCACTGTGATGTGAGAGGC -3'
(R):5'- GCTATGTGGCCATCTGCAAAC -3'

Posted On

2015-11-11