Mutagenetix > Incidental Mutation

Incidental Mutation 'R1489:Mcpt9'

163623

Institutional Source

Beutler Lab

Gene Symbol

Mcpt9

Ensembl Gene

ENSMUSG00000071361

Gene Name

mast cell protease 9

Synonyms

MMRRC Submission

039541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56264321-56267952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56264976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 175 (K175R)

Ref Sequence

ENSEMBL: ENSMUSP00000093476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095798]

AlphaFold

O35164

Predicted Effect

probably benign
Transcript: ENSMUST00000095798
AA Change: K175R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000093476
Gene: ENSMUSG00000071361
AA Change: K175R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	20	239	1.18e-80	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,106,295 (GRCm39)	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,362,654 (GRCm39)	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,736,300 (GRCm39)		probably null	Het
Adam39	A	G	8: 41,278,031 (GRCm39)	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,455,071 (GRCm39)	S629R	probably benign	Het
Ap3b2	C	A	7: 81,113,438 (GRCm39)	E924*	probably null	Het
Armc3	A	T	2: 19,314,858 (GRCm39)	Y856F	probably benign	Het
Asap1	A	G	15: 64,044,579 (GRCm39)	L142P	probably damaging	Het
Atg9a	T	A	1: 75,162,734 (GRCm39)	D427V	probably damaging	Het
Atl2	G	A	17: 80,160,135 (GRCm39)	A17V	probably benign	Het
Atxn2l	A	T	7: 126,095,639 (GRCm39)	S379T	probably damaging	Het
C1ql3	G	T	2: 13,015,453 (GRCm39)	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,763,111 (GRCm39)	I114F	probably damaging	Het
Ccdc168	A	G	1: 44,096,950 (GRCm39)	F1383L	probably benign	Het
Ccdc168	T	C	1: 44,100,667 (GRCm39)	I144V	probably benign	Het
Cox16	T	C	12: 81,521,389 (GRCm39)	N135S	probably null	Het
Dnajc13	A	T	9: 104,108,234 (GRCm39)	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,424,835 (GRCm39)	Y73*	probably null	Het
Duox2	T	A	2: 122,123,877 (GRCm39)	M436L	probably benign	Het
Exoc6	T	A	19: 37,585,568 (GRCm39)	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,702,829 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,195,557 (GRCm39)	V419E	unknown	Het
Fndc4	T	C	5: 31,450,795 (GRCm39)	*232W	probably null	Het
Foxc1	C	T	13: 31,992,595 (GRCm39)	R469*	probably null	Het
Fsip2	A	G	2: 82,810,155 (GRCm39)	H2158R	probably benign	Het
Ghdc	C	T	11: 100,659,083 (GRCm39)	G373D	probably benign	Het
Gm10330	A	T	12: 23,830,032 (GRCm39)	S50T	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,690,108 (GRCm39)	V650A	probably damaging	Het
Map1a	T	C	2: 121,130,918 (GRCm39)	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,229,740 (GRCm39)	D190H	probably damaging	Het
Mia3	A	G	1: 183,120,121 (GRCm39)	S85P	probably benign	Het
Myrip	T	C	9: 120,261,595 (GRCm39)	F403L	probably damaging	Het
Nox4	A	G	7: 86,954,097 (GRCm39)	Y134C	probably damaging	Het
Numb	A	G	12: 83,842,217 (GRCm39)	L642P	probably damaging	Het
Pappa	A	T	4: 65,099,185 (GRCm39)	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,575,593 (GRCm39)	L333P	probably benign	Het
Prl	A	T	13: 27,241,619 (GRCm39)	S3C	probably damaging	Het
Ptprc	T	C	1: 138,047,824 (GRCm39)	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc7a7	C	T	14: 54,646,103 (GRCm39)	R120H	probably damaging	Het
Smpd1	T	C	7: 105,205,761 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,058,891 (GRCm39)	E1942G	probably damaging	Het
Tmem38a	A	G	8: 73,333,479 (GRCm39)	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,510,524 (GRCm39)	Y232*	probably null	Het
Tpte	T	C	8: 22,839,405 (GRCm39)		probably null	Het
Virma	T	C	4: 11,521,164 (GRCm39)	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,453,981 (GRCm39)	Q216*	probably null	Het
Zswim3	T	C	2: 164,661,901 (GRCm39)	V127A	probably benign	Het

Other mutations in Mcpt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Mcpt9	APN	14	56,264,373 (GRCm39)	nonsense	probably null
IGL03200:Mcpt9	APN	14	56,264,390 (GRCm39)	missense	probably benign	0.01
IGL03218:Mcpt9	APN	14	56,264,908 (GRCm39)	missense	probably damaging	1.00
IGL03412:Mcpt9	APN	14	56,265,484 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Mcpt9	UTSW	14	56,266,686 (GRCm39)	missense	probably benign	0.03
R0196:Mcpt9	UTSW	14	56,265,453 (GRCm39)	missense	probably benign	0.43
R1218:Mcpt9	UTSW	14	56,266,125 (GRCm39)	nonsense	probably null
R1962:Mcpt9	UTSW	14	56,265,024 (GRCm39)	missense	probably benign	0.01
R2232:Mcpt9	UTSW	14	56,265,445 (GRCm39)	missense	probably benign	0.00
R3911:Mcpt9	UTSW	14	56,265,136 (GRCm39)	missense	probably benign	0.29
R4441:Mcpt9	UTSW	14	56,265,009 (GRCm39)	missense	probably damaging	1.00
R4600:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4603:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4610:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4611:Mcpt9	UTSW	14	56,266,049 (GRCm39)	missense	probably damaging	1.00
R4738:Mcpt9	UTSW	14	56,264,456 (GRCm39)	missense	probably damaging	0.98
R7146:Mcpt9	UTSW	14	56,264,445 (GRCm39)	missense	probably damaging	1.00
R7475:Mcpt9	UTSW	14	56,264,400 (GRCm39)	missense	probably damaging	1.00
R8885:Mcpt9	UTSW	14	56,265,153 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCACAGAGAGATACTTGGCACAC -3'
(R):5'- TGCTGCCCCAATGGGAAAGAAC -3'

Sequencing Primer
(F):5'- GAGAGATACTTGGCACACTTCCTC -3'
(R):5'- CTTCCTTCATCAGCTTAAAAAGCAAG -3'

Posted On

2014-03-28