Mutagenetix > Incidental Mutations

Incidental Mutation 'R0100:Cpxm2'

16984

Institutional Source

Beutler Lab

Gene Symbol

Cpxm2

Ensembl Gene

ENSMUSG00000030862

Gene Name

carboxypeptidase X 2 (M14 family)

Synonyms

4632435C11Rik

MMRRC Submission

038386-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

132032687-132154739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132054871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 554 (H554L)

Ref Sequence

ENSEMBL: ENSMUSP00000033149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033149] [ENSMUST00000124096]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033149
AA Change: H554L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: H554L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	52	59	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
low complexity region	87	98	N/A	INTRINSIC
FA58C	143	301	2.18e-46	SMART
Zn_pept	448	736	9.21e-58	SMART
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122681

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150405

Meta Mutation Damage Score

0.1607

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 82.7%
20x: 75.2%

Validation Efficiency

89% (68/76)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,254,011	I442T	possibly damaging	Het
Agrn	A	G	4: 156,174,958	C814R	probably damaging	Het
Aoc1	T	C	6: 48,908,604	I681T	possibly damaging	Het
Atp13a4	T	C	16: 29,421,724	H793R	probably damaging	Het
Atp6v0a4	T	C	6: 38,076,815	I351V	probably benign	Het
Bbof1	T	A	12: 84,411,055	D31E	probably benign	Het
Ddx55	C	T	5: 124,556,782	T91I	probably damaging	Het
Dhx57	T	C	17: 80,275,156	D340G	possibly damaging	Het
Dnah1	C	T	14: 31,262,152		probably null	Het
Dpp9	C	T	17: 56,205,854	G118D	possibly damaging	Het
Etl4	T	C	2: 20,339,905	S4P	probably benign	Het
Fat4	A	C	3: 38,980,248	N2683T	probably damaging	Het
Gabrb2	A	G	11: 42,487,314	D119G	probably damaging	Het
Greb1	T	A	12: 16,680,224	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,217,015	L705P	probably damaging	Het
H13	T	A	2: 152,689,863		probably null	Het
Hgs	T	G	11: 120,482,852	Y708D	possibly damaging	Het
Hip1	T	C	5: 135,436,453	D367G	probably benign	Het
Ift140	C	T	17: 25,090,954	Q1112*	probably null	Het
Il17b	A	G	18: 61,690,271	M59V	probably benign	Het
Lpin3	T	C	2: 160,905,340	Y829H	probably damaging	Het
Lrrk2	A	T	15: 91,745,796	N1230I	probably damaging	Het
Mindy2	C	A	9: 70,607,449		probably benign	Het
Nup210	T	G	6: 91,069,193	E586A	probably benign	Het
Olfr1105	T	C	2: 87,033,595	T209A	probably benign	Het
Olfr1344	C	T	7: 6,440,400	R167C	probably damaging	Het
Olfr346	A	T	2: 36,688,911	N303I	probably benign	Het
Osgepl1	A	G	1: 53,323,213	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,102,666	S360P	probably benign	Het
Plekha6	T	C	1: 133,270,177	S271P	probably damaging	Het
Plekhs1	A	G	19: 56,478,502	E255G	probably damaging	Het
Pram1	T	A	17: 33,641,399	N313K	possibly damaging	Het
Rapgef5	C	T	12: 117,721,299	S261L	probably benign	Het
Spint5	T	A	2: 164,717,000	C49S	probably damaging	Het
Tex22	T	A	12: 113,088,772	I150N	probably benign	Het
Thoc6	A	T	17: 23,669,850	W195R	probably damaging	Het
Tmem106a	T	C	11: 101,586,258	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,028,366	T170A	probably benign	Het
Tor1aip1	A	T	1: 156,007,075	D342E	probably damaging	Het
Trav7-6	T	C	14: 53,717,072	S20P	probably damaging	Het
Trpc6	C	T	9: 8,653,034	P614S	probably damaging	Het
Washc5	A	G	15: 59,344,098	F811L	possibly damaging	Het

Other mutations in Cpxm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Cpxm2	APN	7	132059811	missense	probably benign	0.01
IGL02039:Cpxm2	APN	7	132047753	missense	probably damaging	1.00
IGL03011:Cpxm2	APN	7	132049078	missense	possibly damaging	0.46
R0033:Cpxm2	UTSW	7	132062157	missense	possibly damaging	0.55
R0100:Cpxm2	UTSW	7	132054871	missense	possibly damaging	0.90
R0453:Cpxm2	UTSW	7	132128405	missense	probably damaging	1.00
R0555:Cpxm2	UTSW	7	132044043	nonsense	probably null
R0655:Cpxm2	UTSW	7	132054820	missense	possibly damaging	0.87
R0834:Cpxm2	UTSW	7	132154613	intron	probably benign
R1145:Cpxm2	UTSW	7	132057648	missense	probably damaging	0.99
R1145:Cpxm2	UTSW	7	132057648	missense	probably damaging	0.99
R1249:Cpxm2	UTSW	7	132128350	critical splice donor site	probably null
R1563:Cpxm2	UTSW	7	132143682	missense	probably benign	0.00
R1565:Cpxm2	UTSW	7	132062145	missense	probably damaging	1.00
R1709:Cpxm2	UTSW	7	132059834	missense	probably damaging	1.00
R1863:Cpxm2	UTSW	7	132143663	splice site	probably null
R1874:Cpxm2	UTSW	7	132059834	missense	probably damaging	1.00
R1958:Cpxm2	UTSW	7	132062147	missense	probably damaging	1.00
R2273:Cpxm2	UTSW	7	132059852	intron	probably benign
R3806:Cpxm2	UTSW	7	132080091	missense	probably benign	0.12
R3861:Cpxm2	UTSW	7	132054919	missense	probably benign	0.00
R4570:Cpxm2	UTSW	7	132143706	missense	probably benign	0.11
R4642:Cpxm2	UTSW	7	132070881	missense	probably benign	0.11
R4684:Cpxm2	UTSW	7	132049038	missense	possibly damaging	0.92
R4717:Cpxm2	UTSW	7	132054845	missense	possibly damaging	0.61
R4863:Cpxm2	UTSW	7	132059747	missense	probably benign	0.13
R5079:Cpxm2	UTSW	7	132154285	critical splice donor site	probably null
R5341:Cpxm2	UTSW	7	132154613	intron	probably benign
R5626:Cpxm2	UTSW	7	132059852	intron	probably benign
R5666:Cpxm2	UTSW	7	132054896	missense	probably benign	0.44
R5815:Cpxm2	UTSW	7	132044110	missense	probably damaging	1.00
R6114:Cpxm2	UTSW	7	132154306	missense	probably benign
R6133:Cpxm2	UTSW	7	132128453	missense	probably damaging	1.00
R6224:Cpxm2	UTSW	7	132143731	missense	probably benign
R6468:Cpxm2	UTSW	7	132070860	missense	probably damaging	1.00
R6657:Cpxm2	UTSW	7	132049077	missense	probably damaging	1.00
R7058:Cpxm2	UTSW	7	132143679	missense	probably benign	0.32
R7100:Cpxm2	UTSW	7	132054815	missense	probably benign	0.06
R7198:Cpxm2	UTSW	7	132080084	missense	probably damaging	1.00
R7712:Cpxm2	UTSW	7	132154378	missense	possibly damaging	0.69
R7855:Cpxm2	UTSW	7	132057695	missense	possibly damaging	0.56
R7867:Cpxm2	UTSW	7	132049071	missense	probably damaging	1.00
R8513:Cpxm2	UTSW	7	132143702	missense	probably benign	0.01
R8694:Cpxm2	UTSW	7	132080054	missense	probably benign	0.03
R8874:Cpxm2	UTSW	7	132106281	critical splice donor site	probably null
R8967:Cpxm2	UTSW	7	132059835	missense	probably damaging	1.00
RF014:Cpxm2	UTSW	7	132070863	missense	possibly damaging	0.85
Z1177:Cpxm2	UTSW	7	132055001	missense	probably benign	0.01

Posted On

2013-01-20