Mutagenetix > Incidental Mutation

Incidental Mutation 'R3889:Tpsb2'

310212

Institutional Source

Beutler Lab

Gene Symbol

Tpsb2

Ensembl Gene

ENSMUSG00000033825

Gene Name

tryptase beta 2

Synonyms

MMCP-6, Mcp6, Mcp-6, Mcpt6

MMRRC Submission

040801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25585282-25587070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25586457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 181 (V181I)

Ref Sequence

ENSEMBL: ENSMUSP00000063499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024999] [ENSMUST00000069616] [ENSMUST00000160377] [ENSMUST00000160485] [ENSMUST00000162021]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024999

SMART Domains

Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	29	257	1.06e-87	SMART
transmembrane domain	274	296	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000069616
AA Change: V181I

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

SMART Domains

Protein: ENSMUSP00000063499
Gene: ENSMUSG00000033825
AA Change: V181I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Tryp_SPc	31	268	7.49e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160377

SMART Domains

Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	4	154	1.79e-30	SMART
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160485

SMART Domains

Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	4	154	1.79e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162021

SMART Domains

Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	5	111	2.35e-4	SMART
transmembrane domain	128	150	N/A	INTRINSIC

Meta Mutation Damage Score

0.5076

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show reduced recruitment of eosinophils to sites of T. spiralis larvae and decreased elimination of larvae in chronically infected skeletal muscle. Mice homozygous for a knock-in allele show a reduced ability to clear K. pneumoniae from their peritoneal cavity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
7530416G11Rik	A	G	15: 85,378,292 (GRCm39)	F117S	unknown	Het
Adamts5	A	G	16: 85,665,009 (GRCm39)	W652R	probably damaging	Het
Adamtsl4	G	T	3: 95,588,167 (GRCm39)	Q607K	probably damaging	Het
Atm	T	C	9: 53,417,936 (GRCm39)		probably benign	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Baiap2l1	T	C	5: 144,215,345 (GRCm39)	T387A	possibly damaging	Het
Cct3	A	T	3: 88,228,334 (GRCm39)	Q472L	probably benign	Het
Chd3	C	T	11: 69,250,011 (GRCm39)	E623K	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
Dclre1a	A	T	19: 56,533,752 (GRCm39)	C263S	probably benign	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Eif2ak1	A	T	5: 143,821,479 (GRCm39)	Q265L	probably benign	Het
Elp1	G	A	4: 56,759,852 (GRCm39)	R1138C	probably damaging	Het
Epha3	A	G	16: 63,431,327 (GRCm39)	F526L	probably damaging	Het
Etl4	C	T	2: 20,534,772 (GRCm39)	Q76*	probably null	Het
Fat2	C	A	11: 55,172,589 (GRCm39)	G2708V	probably damaging	Het
Fgd6	G	A	10: 93,925,499 (GRCm39)	E853K	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Fsd1	A	G	17: 56,300,893 (GRCm39)	K251E	probably benign	Het
Gjc3	T	A	5: 137,956,105 (GRCm39)	N60I	possibly damaging	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
H6pd	T	A	4: 150,080,230 (GRCm39)	Y197F	possibly damaging	Het
Hip1r	C	T	5: 124,139,854 (GRCm39)	R986*	probably null	Het
Igkv9-120	A	G	6: 68,027,362 (GRCm39)	D92G	probably damaging	Het
Il6	A	G	5: 30,223,066 (GRCm39)	K128E	possibly damaging	Het
Irf4	T	C	13: 30,945,473 (GRCm39)		probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Ltbp2	A	G	12: 84,831,681 (GRCm39)		probably benign	Het
Pcmt1	C	T	10: 7,524,814 (GRCm39)		probably null	Het
Plekhm2	C	T	4: 141,369,301 (GRCm39)		probably benign	Het
Prkca	C	T	11: 107,870,066 (GRCm39)	G450R	probably damaging	Het
Psme3	C	A	11: 101,210,282 (GRCm39)	P82T	probably damaging	Het
Rgs11	T	C	17: 26,426,561 (GRCm39)	I262T	probably damaging	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpina1e	A	T	12: 103,917,132 (GRCm39)	V179E	probably damaging	Het
Sgo2b	T	C	8: 64,380,777 (GRCm39)	Q685R	possibly damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slc25a45	C	T	19: 5,930,661 (GRCm39)		probably benign	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Spen	A	G	4: 141,205,192 (GRCm39)	V1145A	unknown	Het
Stub1	T	C	17: 26,050,276 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,952,923 (GRCm39)	I176V	probably benign	Het
Tacr2	G	A	10: 62,100,865 (GRCm39)	C325Y	probably damaging	Het
Tbc1d17	T	A	7: 44,495,362 (GRCm39)	H154L	probably damaging	Het
Tll1	A	T	8: 64,658,258 (GRCm39)	C54S	possibly damaging	Het
Trak1	A	G	9: 121,274,939 (GRCm39)	N146S	probably null	Het
Vmn1r177	T	C	7: 23,565,289 (GRCm39)	I196V	possibly damaging	Het
Zfp820	T	C	17: 22,037,877 (GRCm39)	I484V	probably benign	Het

Other mutations in Tpsb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1831:Tpsb2	UTSW	17	25,585,494 (GRCm39)	splice site	probably null
R2044:Tpsb2	UTSW	17	25,586,698 (GRCm39)	missense	probably damaging	1.00
R2051:Tpsb2	UTSW	17	25,585,539 (GRCm39)	unclassified	probably benign
R4853:Tpsb2	UTSW	17	25,585,536 (GRCm39)	unclassified	probably benign
R4854:Tpsb2	UTSW	17	25,585,536 (GRCm39)	unclassified	probably benign
R5986:Tpsb2	UTSW	17	25,586,108 (GRCm39)	missense	probably benign	0.25
R6211:Tpsb2	UTSW	17	25,586,737 (GRCm39)	missense	possibly damaging	0.56
R6848:Tpsb2	UTSW	17	25,586,802 (GRCm39)	nonsense	probably null
R9599:Tpsb2	UTSW	17	25,586,077 (GRCm39)	nonsense	probably null
R9704:Tpsb2	UTSW	17	25,585,834 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGGCGACATTGATAATGAC -3'
(R):5'- TGAATCGCCCTGAAGAAGAC -3'

Sequencing Primer
(F):5'- ACATTGATAATGACGGTATGTGGC -3'
(R):5'- GTCAGCACACAGTATGGAGACC -3'

Posted On

2015-04-17