Mutagenetix > Incidental Mutation

Incidental Mutation 'R8363:Mcpt4'

646069

Institutional Source

Beutler Lab

Gene Symbol

Mcpt4

Ensembl Gene

ENSMUSG00000061068

Gene Name

mast cell protease 4

Synonyms

Mcp4, myonase, MMCP-4B, Mcp-4, MMCP-4, MMCP-4A

MMRRC Submission

067654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8363 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56297201-56299767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56299692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000038103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043249]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043249
AA Change: S14P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038103
Gene: ENSMUSG00000061068
AA Change: S14P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	239	6.1e-88	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this locus affects thrombin regulation and fibronectin turnover. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,800 (GRCm39)	I375L		Het
Adamts18	C	T	8: 114,493,795 (GRCm39)	G448D	probably damaging	Het
Bzw2	A	G	12: 36,180,122 (GRCm39)	V35A	probably benign	Het
C2cd4d	C	T	3: 94,271,157 (GRCm39)	T141M	probably benign	Het
Chchd4	T	A	6: 91,444,737 (GRCm39)	K17*	probably null	Het
Cmas	C	T	6: 142,702,554 (GRCm39)	P19L	probably benign	Het
Colec10	A	G	15: 54,274,238 (GRCm39)	H22R	probably benign	Het
D630045J12Rik	T	C	6: 38,125,376 (GRCm39)	D1546G	probably damaging	Het
Dgki	A	T	6: 36,993,613 (GRCm39)	C583S	probably damaging	Het
Dhrs13	G	T	11: 77,925,343 (GRCm39)	V205L	probably damaging	Het
Eif4a3l1	T	G	6: 136,306,453 (GRCm39)	S305A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Erc1	T	C	6: 119,730,260 (GRCm39)	D612G	probably benign	Het
Fam163b	G	A	2: 27,002,650 (GRCm39)	R116C	probably benign	Het
Gm5160	T	C	18: 14,557,929 (GRCm39)	V2A	possibly damaging	Het
Gm8247	A	T	14: 44,823,919 (GRCm39)	I202F		Het
Gnpat	T	C	8: 125,590,038 (GRCm39)	V21A	probably benign	Het
Igfn1	A	T	1: 135,891,625 (GRCm39)	S2297T	probably benign	Het
Igkv13-85	A	G	6: 68,907,269 (GRCm39)	Y111H	probably damaging	Het
Il17rd	A	G	14: 26,813,906 (GRCm39)	N206D	probably damaging	Het
Il1r2	G	A	1: 40,160,095 (GRCm39)	V272M	probably damaging	Het
Ivl	T	A	3: 92,479,525 (GRCm39)	H180L	possibly damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kirrel2	A	G	7: 30,152,968 (GRCm39)	V350A	probably damaging	Het
Mdm2	A	G	10: 117,526,239 (GRCm39)	V449A	probably damaging	Het
Mga	T	C	2: 119,794,407 (GRCm39)	V2697A	probably benign	Het
Mlxipl	T	C	5: 135,135,930 (GRCm39)	F52L	probably benign	Het
Mtarc2	A	G	1: 184,566,055 (GRCm39)		probably null	Het
Ndst3	T	C	3: 123,350,517 (GRCm39)	S623G	possibly damaging	Het
Oas1a	C	T	5: 121,043,902 (GRCm39)	A77T	probably damaging	Het
Or4d1	A	T	11: 87,805,069 (GRCm39)	I221N	probably damaging	Het
Or9a2	T	C	6: 41,748,684 (GRCm39)	Q183R	probably benign	Het
P3h2	A	G	16: 25,811,468 (GRCm39)	F252L	probably damaging	Het
Psme4	A	G	11: 30,762,139 (GRCm39)	D493G	probably damaging	Het
Rab3ip	A	C	10: 116,754,869 (GRCm39)	I229S	probably damaging	Het
Ralgapb	T	C	2: 158,268,119 (GRCm39)	L74P	probably damaging	Het
Scn1a	G	T	2: 66,152,601 (GRCm39)	N804K	probably damaging	Het
Slc22a6	A	T	19: 8,596,386 (GRCm39)	H124L	probably benign	Het
Slc6a6	A	G	6: 91,727,277 (GRCm39)	I492V	probably benign	Het
Snx2	G	T	18: 53,330,936 (GRCm39)	E134*	probably null	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tcp11	A	G	17: 28,288,221 (GRCm39)	S415P	possibly damaging	Het
Vmn2r67	A	T	7: 84,804,969 (GRCm39)	S48T	probably benign	Het
Vps16	T	A	2: 130,284,161 (GRCm39)	F665L	probably benign	Het
Wdhd1	A	T	14: 47,513,989 (GRCm39)	D22E	probably damaging	Het
Zng1	A	T	19: 24,920,091 (GRCm39)	H175Q	probably benign	Het

Other mutations in Mcpt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Mcpt4	APN	14	56,298,487 (GRCm39)	missense	probably benign
IGL02733:Mcpt4	APN	14	56,298,124 (GRCm39)	missense	probably benign	0.03
R0622:Mcpt4	UTSW	14	56,298,119 (GRCm39)	missense	probably benign	0.06
R1699:Mcpt4	UTSW	14	56,297,416 (GRCm39)	makesense	probably null
R4298:Mcpt4	UTSW	14	56,298,444 (GRCm39)	missense	possibly damaging	0.70
R4413:Mcpt4	UTSW	14	56,297,993 (GRCm39)	missense	probably damaging	0.98
R5191:Mcpt4	UTSW	14	56,298,466 (GRCm39)	missense	probably benign	0.00
R5378:Mcpt4	UTSW	14	56,299,750 (GRCm39)	splice site	probably null
R6650:Mcpt4	UTSW	14	56,298,090 (GRCm39)	missense	possibly damaging	0.82
R7062:Mcpt4	UTSW	14	56,298,125 (GRCm39)	missense	probably benign	0.09
R7730:Mcpt4	UTSW	14	56,297,428 (GRCm39)	missense	probably benign
R7809:Mcpt4	UTSW	14	56,298,141 (GRCm39)	missense	possibly damaging	0.77
R9368:Mcpt4	UTSW	14	56,299,134 (GRCm39)	missense	probably damaging	0.97
R9751:Mcpt4	UTSW	14	56,297,511 (GRCm39)	missense	probably damaging	1.00
X0019:Mcpt4	UTSW	14	56,299,729 (GRCm39)	start codon destroyed	probably null	0.94
Z1088:Mcpt4	UTSW	14	56,297,967 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCAACACTAAGGGAAGGC -3'
(R):5'- CACCAGAGAGCAGTCATGAG -3'

Sequencing Primer
(F):5'- TTTGGTGAAACATTCTAAAGGGG -3'
(R):5'- CCAGAGAGCAGTCATGAGAATTTCTG -3'

Posted On

2020-09-02