Mutagenetix > Incidental Mutations

Incidental Mutation 'R2907:Mcpt1'

261707

Institutional Source

Beutler Lab

Gene Symbol

Mcpt1

Ensembl Gene

ENSMUSG00000022227

Gene Name

mast cell protease 1

Synonyms

Mcp-1

MMRRC Submission

040494-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56017971-56020384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56020123 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 242 (V242A)

Ref Sequence

ENSEMBL: ENSMUSP00000022836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022836]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022836
AA Change: V242A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022836
Gene: ENSMUSG00000022227
AA Change: V242A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	239	1.01e-84	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (37/38)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an increased succeptibility to parasitic infections which cause increased numbers of intestinal mucosal mast cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,567,297	E385G	probably damaging	Het
Adam32	A	T	8: 24,863,504	W690R	probably damaging	Het
Ap1b1	T	A	11: 5,031,641	N516K	probably damaging	Het
Arap3	G	A	18: 37,990,527	P452L	possibly damaging	Het
Armcx6	A	T	X: 134,749,450	C211S	probably damaging	Het
Asns	A	G	6: 7,675,506	S499P	probably benign	Het
Aspn	G	T	13: 49,551,898	V79F	probably damaging	Het
Astn2	A	G	4: 65,644,856	I844T	possibly damaging	Het
Asxl3	A	T	18: 22,517,273	H773L	possibly damaging	Het
Atp7b	G	A	8: 22,011,554	T781I	probably damaging	Het
Bcl6	G	A	16: 23,968,119	R641W	probably damaging	Het
Csmd3	T	A	15: 48,011,053	I612F	probably damaging	Het
Dnm1l	A	T	16: 16,314,311	S666T	probably damaging	Het
Gucy2c	A	T	6: 136,708,387	V852E	probably damaging	Het
H2-T3	G	A	17: 36,187,455	R233C	possibly damaging	Het
Igfbp4	A	G	11: 99,041,551		probably benign	Het
Igkv16-104	T	C	6: 68,425,927	I68T	probably damaging	Het
Kansl1	T	A	11: 104,424,460	S251C	possibly damaging	Het
Kcnk1	G	T	8: 125,995,799	V114L	probably benign	Het
Klra3	G	T	6: 130,333,339	Q73K	probably damaging	Het
Nek10	C	A	14: 14,980,613	Q990K	possibly damaging	Het
Nlrp4d	A	T	7: 10,378,427	V605E	probably benign	Het
Olfr1176	T	C	2: 88,340,483	I306T	probably benign	Het
Olfr1437	T	C	19: 12,322,668	D53G	probably damaging	Het
Olfr1490	C	T	19: 13,655,247	P268S	possibly damaging	Het
Osbpl1a	A	G	18: 12,871,072		probably benign	Het
Otud4	T	A	8: 79,673,068	S803T	probably benign	Het
Pax9	C	T	12: 56,709,744	T289I	probably benign	Het
Pcdha5	A	C	18: 36,960,815	I126L	possibly damaging	Het
Psmd4	G	T	3: 95,033,962	A55E	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,142,834	T516S	probably benign	Het
Sdr42e1	G	A	8: 117,662,772	L377F	probably damaging	Het
Setdb1	T	C	3: 95,327,201		probably benign	Het
Uba3	T	C	6: 97,203,553	E21G	probably benign	Het
Uggt2	C	T	14: 119,019,507	S1105N	probably benign	Het
Zfp113	T	C	5: 138,144,957	N344D	probably benign	Het
Zfp738	T	C	13: 67,670,112	I587V	probably benign	Het

Other mutations in Mcpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0104:Mcpt1	UTSW	14	56019431	missense	possibly damaging	0.65
R1458:Mcpt1	UTSW	14	56019164	splice site	probably benign
R1473:Mcpt1	UTSW	14	56019533	missense	probably benign	0.01
R1939:Mcpt1	UTSW	14	56019089	missense	possibly damaging	0.95
R3966:Mcpt1	UTSW	14	56019046	missense	probably benign	0.14
R4235:Mcpt1	UTSW	14	56018560	critical splice acceptor site	probably null
R4594:Mcpt1	UTSW	14	56018652	missense	probably benign	0.00
R4754:Mcpt1	UTSW	14	56018680	missense	probably damaging	1.00
R4836:Mcpt1	UTSW	14	56019560	missense	probably damaging	1.00
R5743:Mcpt1	UTSW	14	56018615	missense	probably benign	0.41
R5888:Mcpt1	UTSW	14	56019512	missense	probably benign	0.14
R6925:Mcpt1	UTSW	14	56019065	missense	probably damaging	1.00
R7780:Mcpt1	UTSW	14	56019152	critical splice donor site	probably null
R8712:Mcpt1	UTSW	14	56018713	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTCTAGACAGACAGGACCTC -3'
(R):5'- ATCCTCAAAGGGACAGCTGG -3'

Sequencing Primer
(F):5'- GGACCTCATACACCATTCCATGTTAG -3'
(R):5'- TGGGGACAGAATGGGGGC -3'

Posted On

2015-01-23