Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Cpxm2'

204117

Institutional Source

Beutler Lab

Gene Symbol

Cpxm2

Ensembl Gene

ENSMUSG00000030862

Gene Name

carboxypeptidase X 2 (M14 family)

Synonyms

4632435C11Rik

MMRRC Submission

039886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1863 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

132032687-132154739 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 132143663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033149 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000033149

SMART Domains

Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862

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

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: ENSMUST00000136188

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,228,593 (GRCm38)	I2108V	probably benign	Het
A2ml1	A	T	6: 128,550,783 (GRCm38)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,551,432 (GRCm38)		probably null	Het
Adgrv1	G	A	13: 81,563,566 (GRCm38)	T1097I	probably damaging	Het
Apeh	T	C	9: 108,092,103 (GRCm38)	Y274C	possibly damaging	Het
Apobec3	A	G	15: 79,897,867 (GRCm38)	D26G	possibly damaging	Het
Arg2	C	T	12: 79,150,020 (GRCm38)	Q172*	probably null	Het
Asb18	C	T	1: 90,014,382 (GRCm38)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,358,931 (GRCm38)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,152,100 (GRCm38)	W185R	probably damaging	Het
Car5b	T	C	X: 163,991,373 (GRCm38)	D146G	probably damaging	Het
Card10	G	A	15: 78,780,514 (GRCm38)	R747W	probably damaging	Het
Cd300lg	T	G	11: 102,041,604 (GRCm38)	V5G	probably damaging	Het
Cd46	C	A	1: 195,083,623 (GRCm38)	G145C	probably damaging	Het
Chit1	T	C	1: 134,151,250 (GRCm38)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,118,119 (GRCm38)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,940,201 (GRCm38)	M304L	unknown	Het
Dbf4	G	A	5: 8,397,375 (GRCm38)	Q612*	probably null	Het
Dnah11	G	C	12: 118,063,852 (GRCm38)	Q1835E	possibly damaging	Het
Ehbp1l1	A	T	19: 5,717,854 (GRCm38)	N1140K	probably benign	Het
Eps8l1	C	A	7: 4,465,360 (GRCm38)		probably benign	Het
Fbxl21	A	T	13: 56,527,063 (GRCm38)	I76L	probably benign	Het
Gcnt2	A	T	13: 40,861,101 (GRCm38)	K249N	possibly damaging	Het
Gm11487	A	T	4: 73,401,800 (GRCm38)	Y247*	probably null	Het
Gm5819	A	G	18: 8,694,179 (GRCm38)	T35A	probably benign	Het
Gm8180	T	C	14: 43,783,682 (GRCm38)	E23G	probably benign	Het
Gorab	A	G	1: 163,403,562 (GRCm38)	F8L	probably damaging	Het
Hlf	A	G	11: 90,340,826 (GRCm38)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,723,436 (GRCm38)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,946,569 (GRCm38)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,481,384 (GRCm38)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,646,811 (GRCm38)	S119G	unknown	Het
Lipo1	A	G	19: 33,784,692 (GRCm38)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,498,363 (GRCm38)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 70,617,946 (GRCm38)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,444,921 (GRCm38)	S181P	possibly damaging	Het
Mss51	C	T	14: 20,484,868 (GRCm38)	R278H	probably damaging	Het
Myom3	G	A	4: 135,778,037 (GRCm38)	M412I	probably benign	Het
Naa25	T	C	5: 121,435,548 (GRCm38)	V780A	probably benign	Het
Naip6	A	T	13: 100,300,559 (GRCm38)	F485L	probably benign	Het
Notch1	T	C	2: 26,469,950 (GRCm38)	Y1251C	probably damaging	Het
Npas3	A	G	12: 54,068,826 (GRCm38)	N826D	probably damaging	Het
Nup155	A	T	15: 8,157,760 (GRCm38)	H1391L	probably damaging	Het
Olfr1247	A	T	2: 89,609,709 (GRCm38)	L131*	probably null	Het
Olfr1260	A	T	2: 89,978,410 (GRCm38)	I211F	probably benign	Het
Olfr143	T	G	9: 38,253,720 (GRCm38)	M101R	probably damaging	Het
Olfr285	G	T	15: 98,313,491 (GRCm38)	Q20K	probably benign	Het
Olfr328	T	C	11: 58,552,023 (GRCm38)	Y72C	probably benign	Het
Olfr480	A	C	7: 108,066,725 (GRCm38)	Y24*	probably null	Het
Olfr798	T	C	10: 129,625,348 (GRCm38)	T238A	probably damaging	Het
Osbpl6	G	A	2: 76,585,058 (GRCm38)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,486,111 (GRCm38)	D318V	probably benign	Het
Pcnx2	T	A	8: 125,818,786 (GRCm38)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,511,154 (GRCm38)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020 (GRCm38)	R805S	probably benign	Het
Ppl	T	C	16: 5,087,980 (GRCm38)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,491,331 (GRCm38)	E120G	probably benign	Het
Prg4	T	A	1: 150,460,669 (GRCm38)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,608,174 (GRCm38)	D42E	possibly damaging	Het
Rbm5	C	T	9: 107,750,519 (GRCm38)	V408I	possibly damaging	Het
Rsrp1	G	T	4: 134,924,077 (GRCm38)	D51Y	unknown	Het
Sec22a	A	G	16: 35,347,718 (GRCm38)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,117,659 (GRCm38)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,732,685 (GRCm38)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,608,994 (GRCm38)	T157I	probably damaging	Het
Syne4	T	C	7: 30,316,883 (GRCm38)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,711,102 (GRCm38)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,507,693 (GRCm38)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,276,346 (GRCm38)	I1526F	probably benign	Het
Tgm2	C	T	2: 158,124,219 (GRCm38)	C505Y	probably damaging	Het
Thop1	T	C	10: 81,073,317 (GRCm38)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,271,436 (GRCm38)	H220Y	probably damaging	Het
Tle6	T	C	10: 81,591,921 (GRCm38)	D500G	possibly damaging	Het
Tm6sf2	T	A	8: 70,079,725 (GRCm38)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,670,874 (GRCm38)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm38)	C378*	probably null	Het
Ttc6	G	A	12: 57,714,095 (GRCm38)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,406,989 (GRCm38)	N190K	probably benign	Het
Wdr70	C	A	15: 7,920,573 (GRCm38)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm38)		probably benign	Het
Xrcc1	T	C	7: 24,570,575 (GRCm38)	S474P	possibly damaging	Het
Zfp658	T	G	7: 43,573,899 (GRCm38)	F533V	possibly damaging	Het
Zfp799	G	A	17: 32,819,400 (GRCm38)	H631Y	probably damaging	Het

Other mutations in Cpxm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Cpxm2	APN	7	132,059,811 (GRCm38)	missense	probably benign	0.01
IGL02039:Cpxm2	APN	7	132,047,753 (GRCm38)	missense	probably damaging	1.00
IGL03011:Cpxm2	APN	7	132,049,078 (GRCm38)	missense	possibly damaging	0.46
R0033:Cpxm2	UTSW	7	132,062,157 (GRCm38)	missense	possibly damaging	0.55
R0100:Cpxm2	UTSW	7	132,054,871 (GRCm38)	missense	possibly damaging	0.90
R0100:Cpxm2	UTSW	7	132,054,871 (GRCm38)	missense	possibly damaging	0.90
R0453:Cpxm2	UTSW	7	132,128,405 (GRCm38)	missense	probably damaging	1.00
R0555:Cpxm2	UTSW	7	132,044,043 (GRCm38)	nonsense	probably null
R0655:Cpxm2	UTSW	7	132,054,820 (GRCm38)	missense	possibly damaging	0.87
R0834:Cpxm2	UTSW	7	132,154,613 (GRCm38)	intron	probably benign
R1145:Cpxm2	UTSW	7	132,057,648 (GRCm38)	missense	probably damaging	0.99
R1145:Cpxm2	UTSW	7	132,057,648 (GRCm38)	missense	probably damaging	0.99
R1249:Cpxm2	UTSW	7	132,128,350 (GRCm38)	critical splice donor site	probably null
R1563:Cpxm2	UTSW	7	132,143,682 (GRCm38)	missense	probably benign	0.00
R1565:Cpxm2	UTSW	7	132,062,145 (GRCm38)	missense	probably damaging	1.00
R1709:Cpxm2	UTSW	7	132,059,834 (GRCm38)	missense	probably damaging	1.00
R1874:Cpxm2	UTSW	7	132,059,834 (GRCm38)	missense	probably damaging	1.00
R1958:Cpxm2	UTSW	7	132,062,147 (GRCm38)	missense	probably damaging	1.00
R2273:Cpxm2	UTSW	7	132,059,852 (GRCm38)	intron	probably benign
R3806:Cpxm2	UTSW	7	132,080,091 (GRCm38)	missense	probably benign	0.12
R3861:Cpxm2	UTSW	7	132,054,919 (GRCm38)	missense	probably benign	0.00
R4570:Cpxm2	UTSW	7	132,143,706 (GRCm38)	missense	probably benign	0.11
R4642:Cpxm2	UTSW	7	132,070,881 (GRCm38)	missense	probably benign	0.11
R4684:Cpxm2	UTSW	7	132,049,038 (GRCm38)	missense	possibly damaging	0.92
R4717:Cpxm2	UTSW	7	132,054,845 (GRCm38)	missense	possibly damaging	0.61
R4863:Cpxm2	UTSW	7	132,059,747 (GRCm38)	missense	probably benign	0.13
R5079:Cpxm2	UTSW	7	132,154,285 (GRCm38)	critical splice donor site	probably null
R5341:Cpxm2	UTSW	7	132,154,613 (GRCm38)	intron	probably benign
R5626:Cpxm2	UTSW	7	132,059,852 (GRCm38)	intron	probably benign
R5666:Cpxm2	UTSW	7	132,054,896 (GRCm38)	missense	probably benign	0.44
R5815:Cpxm2	UTSW	7	132,044,110 (GRCm38)	missense	probably damaging	1.00
R6114:Cpxm2	UTSW	7	132,154,306 (GRCm38)	missense	probably benign
R6133:Cpxm2	UTSW	7	132,128,453 (GRCm38)	missense	probably damaging	1.00
R6224:Cpxm2	UTSW	7	132,143,731 (GRCm38)	missense	probably benign
R6468:Cpxm2	UTSW	7	132,070,860 (GRCm38)	missense	probably damaging	1.00
R6657:Cpxm2	UTSW	7	132,049,077 (GRCm38)	missense	probably damaging	1.00
R7058:Cpxm2	UTSW	7	132,143,679 (GRCm38)	missense	probably benign	0.32
R7100:Cpxm2	UTSW	7	132,054,815 (GRCm38)	missense	probably benign	0.06
R7198:Cpxm2	UTSW	7	132,080,084 (GRCm38)	missense	probably damaging	1.00
R7712:Cpxm2	UTSW	7	132,154,378 (GRCm38)	missense	possibly damaging	0.69
R7855:Cpxm2	UTSW	7	132,057,695 (GRCm38)	missense	possibly damaging	0.56
R7867:Cpxm2	UTSW	7	132,049,071 (GRCm38)	missense	probably damaging	1.00
R8513:Cpxm2	UTSW	7	132,143,702 (GRCm38)	missense	probably benign	0.01
R8694:Cpxm2	UTSW	7	132,080,054 (GRCm38)	missense	probably benign	0.03
R8874:Cpxm2	UTSW	7	132,106,281 (GRCm38)	critical splice donor site	probably null
R8967:Cpxm2	UTSW	7	132,059,835 (GRCm38)	missense	probably damaging	1.00
R9680:Cpxm2	UTSW	7	132,059,922 (GRCm38)	missense	probably damaging	1.00
R9759:Cpxm2	UTSW	7	132,154,513 (GRCm38)	missense	probably benign	0.03
RF014:Cpxm2	UTSW	7	132,070,863 (GRCm38)	missense	possibly damaging	0.85
Z1177:Cpxm2	UTSW	7	132,055,001 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAAGTGACTTGAGCAATTCAATC -3'
(R):5'- TCCTCATATCCAGAGGCTCC -3'

Sequencing Primer
(F):5'- GAGCAATTCAATCAGCAAAATCATG -3'
(R):5'- AAAGCTGCCAGTGATGAC -3'

Posted On

2014-06-23