Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Cpxm2'

190324

Institutional Source

Beutler Lab

Gene Symbol

Cpxm2

Ensembl Gene

ENSMUSG00000030862

Gene Name

carboxypeptidase X 2 (M14 family)

Synonyms

4632435C11Rik

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

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

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132032687-132154739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132059834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 408 (Y408C)

Ref Sequence

ENSEMBL: ENSMUSP00000033149 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033149
AA Change: Y408C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: Y408C

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

0.9620

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	C	T	5: 9,440,726 (GRCm38)	R579*	probably null	Het
Aacs	A	G	5: 125,489,878 (GRCm38)	K152E	probably benign	Het
Adgrd1	T	C	5: 129,179,228 (GRCm38)	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,593,060 (GRCm38)	V95E	probably damaging	Het
Agbl5	G	A	5: 30,906,241 (GRCm38)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,715,952 (GRCm38)	T201K	probably damaging	Het
Aox1	C	T	1: 58,077,474 (GRCm38)	A788V	probably benign	Het
Apob	T	C	12: 8,009,306 (GRCm38)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,213,231 (GRCm38)	T179I	probably damaging	Het
Atf5	A	T	7: 44,813,283 (GRCm38)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,315,841 (GRCm38)	T1205A	probably benign	Het
Atr	C	T	9: 95,871,076 (GRCm38)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,507,528 (GRCm38)	E25G	possibly damaging	Het
Brap	T	C	5: 121,665,290 (GRCm38)		probably null	Het
C6	G	T	15: 4,790,970 (GRCm38)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm38)	F180S	probably damaging	Het
Cd207	T	C	6: 83,672,836 (GRCm38)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 180,067,224 (GRCm38)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,571,704 (GRCm38)	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,221,949 (GRCm38)	Q297L	probably benign	Het
Coro7	A	T	16: 4,634,441 (GRCm38)		probably null	Het
Cpsf2	T	A	12: 101,999,542 (GRCm38)	Y589N	probably damaging	Het
Crocc	A	G	4: 141,026,099 (GRCm38)		probably null	Het
Cryzl1	A	C	16: 91,712,236 (GRCm38)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,496,195 (GRCm38)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,801,416 (GRCm38)	H147N	unknown	Het
Dennd4a	A	G	9: 64,889,605 (GRCm38)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,760,091 (GRCm38)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,194,431 (GRCm38)	M594L	probably benign	Het
Dspp	C	A	5: 104,175,724 (GRCm38)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,814,370 (GRCm38)		probably null	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,431,657 (GRCm38)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,976,352 (GRCm38)	I530N	probably damaging	Het
Gm13023	T	C	4: 143,793,546 (GRCm38)	V120A	possibly damaging	Het
Gp2	C	A	7: 119,451,585 (GRCm38)	D308Y	probably null	Het
Gpd2	G	A	2: 57,357,655 (GRCm38)	V537M	probably damaging	Het
Gpr18	T	A	14: 121,911,992 (GRCm38)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,897,715 (GRCm38)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,206,940 (GRCm38)	F59V	probably damaging	Het
Hist1h3a	T	A	13: 23,761,981 (GRCm38)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,955,573 (GRCm38)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,782,728 (GRCm38)	D855E	probably benign	Het
Klrk1	A	T	6: 129,614,719 (GRCm38)		probably null	Het
Megf11	A	G	9: 64,695,412 (GRCm38)	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,982,151 (GRCm38)	Q12K	probably benign	Het
Mrgprf	T	C	7: 145,308,217 (GRCm38)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,224,416 (GRCm38)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,348,061 (GRCm38)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,201,273 (GRCm38)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,037,187 (GRCm38)	I433V	probably damaging	Het
Nup153	A	G	13: 46,693,974 (GRCm38)	C660R	probably damaging	Het
Olfr108	T	A	17: 37,446,200 (GRCm38)	Y226*	probably null	Het
Olfr1427	G	T	19: 12,098,881 (GRCm38)	P253T	probably damaging	Het
Olfr196	T	A	16: 59,167,901 (GRCm38)	M81L	probably benign	Het
Olfr447	T	C	6: 42,912,144 (GRCm38)	V207A	possibly damaging	Het
P2rx7	T	A	5: 122,670,465 (GRCm38)	N303K	possibly damaging	Het
Pank4	T	C	4: 154,970,047 (GRCm38)	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,518,500 (GRCm38)	H7L	probably benign	Het
Pdzd8	A	T	19: 59,301,339 (GRCm38)	I543N	probably benign	Het
Prrc2b	C	A	2: 32,194,461 (GRCm38)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm38)	C600R	probably benign	Het
Rem1	G	A	2: 152,634,535 (GRCm38)	V238M	probably damaging	Het
Rfx6	T	A	10: 51,678,402 (GRCm38)	M113K	possibly damaging	Het
Rlf	A	T	4: 121,149,823 (GRCm38)	D653E	probably benign	Het
Rnf130	A	G	11: 50,087,386 (GRCm38)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,956,523 (GRCm38)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,800,336 (GRCm38)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,483,506 (GRCm38)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,549,857 (GRCm38)	D913E	probably benign	Het
Sfr1	G	T	19: 47,735,003 (GRCm38)	E315D	possibly damaging	Het
Smarca5	G	A	8: 80,709,220 (GRCm38)	R763*	probably null	Het
Sugct	A	C	13: 17,672,566 (GRCm38)	I44S	probably damaging	Het
Syce1l	A	G	8: 113,654,030 (GRCm38)		probably null	Het
Tbc1d8b	A	G	X: 139,734,080 (GRCm38)	I654V	probably benign	Het
Tcf23	T	A	5: 30,973,508 (GRCm38)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,011,606 (GRCm38)		probably null	Het
Tmem158	T	C	9: 123,259,885 (GRCm38)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 123,169,982 (GRCm38)	T332A	probably benign	Het
Trappc4	T	C	9: 44,407,211 (GRCm38)	T31A	probably benign	Het
Trim27	T	C	13: 21,188,065 (GRCm38)		probably null	Het
Ttyh2	T	A	11: 114,708,475 (GRCm38)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,639,532 (GRCm38)	L578*	probably null	Het
Txndc11	C	A	16: 11,128,701 (GRCm38)	E83*	probably null	Het
Utp20	T	C	10: 88,749,297 (GRCm38)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,203,322 (GRCm38)	T169I	probably damaging	Het
Vcl	G	A	14: 21,019,373 (GRCm38)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,279,111 (GRCm38)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,194,389 (GRCm38)	M683T	probably benign	Het
Xirp2	A	G	2: 67,509,871 (GRCm38)	I819V	probably benign	Het
Zfp735	T	C	11: 73,711,763 (GRCm38)	F511S	probably benign	Het
Zfp831	T	C	2: 174,645,890 (GRCm38)	V786A	probably benign	Het
Zfp992	T	A	4: 146,466,492 (GRCm38)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,210,819 (GRCm38)	Q72P	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
R1863:Cpxm2	UTSW	7	132,143,663 (GRCm38)	splice site	probably null
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'- AGCACACCCTTAGAGTTGGGATACC -3'
(R):5'- AGGCACCGAGCTATTTGGTCTTTC -3'

Sequencing Primer
(F):5'- CCTTAGAGTTGGGATACCATGCC -3'
(R):5'- CCGTGGCTCTAGTCATTCAGG -3'

Posted On

2014-05-14