Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01520:Cndp2'

90480

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cndp2

Ensembl Gene

ENSMUSG00000024644

Gene Name

CNDP dipeptidase 2 (metallopeptidase M20 family)

Synonyms

Pep1, Dip-2, 0610010E05Rik, Cn2, Pep-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84668607 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 430 (K430R)

Ref Sequence

ENSEMBL: ENSMUSP00000128696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025546] [ENSMUST00000168419]

Predicted Effect

probably benign
Transcript: ENSMUST00000025546
AA Change: K430R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: K430R

Domain	Start	End	E-Value	Type
low complexity region	75	82	N/A	INTRINSIC
Pfam:Peptidase_M20	95	469	6.8e-35	PFAM
Pfam:M20_dimer	208	369	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168419
AA Change: K430R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: K430R

Domain	Start	End	E-Value	Type
low complexity region	75	82	N/A	INTRINSIC
Pfam:Peptidase_M20	95	469	6.2e-33	PFAM
Pfam:M20_dimer	208	369	2.1e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,221,911	T1889K	probably damaging	Het
4430402I18Rik	A	T	19: 28,896,132		probably null	Het
4932438A13Rik	T	A	3: 36,973,260	Y2265*	probably null	Het
Acan	T	A	7: 79,084,570	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,297,753	L149Q	probably damaging	Het
Cd40lg	A	G	X: 57,219,788	N132D	probably benign	Het
Cemip	G	T	7: 83,948,622	T1060K	probably benign	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ces5a	A	T	8: 93,519,578	S328T	probably benign	Het
Cfap70	A	G	14: 20,420,687	C497R	probably benign	Het
Crlf3	T	C	11: 80,060,146	D126G	probably benign	Het
Cxcr1	A	T	1: 74,192,275	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,161,897		noncoding transcript	Het
Erbb2	C	T	11: 98,434,009	H810Y	probably benign	Het
Fam57a	T	C	11: 76,207,225		probably null	Het
Fmn1	C	A	2: 113,444,368		probably benign	Het
Fpr3	A	G	17: 17,971,063	T199A	possibly damaging	Het
Gcsh	A	G	8: 116,983,949		probably benign	Het
Gm10073	T	A	8: 106,573,269	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561	Q456K	probably damaging	Het
Hgs	C	A	11: 120,478,348	P317T	probably damaging	Het
Inmt	C	A	6: 55,171,228	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,501,143	M460I	possibly damaging	Het
Map9	A	T	3: 82,378,965	N359I	probably damaging	Het
Mavs	T	C	2: 131,245,343	S254P	probably benign	Het
Mcts1	T	A	X: 38,611,759		probably benign	Het
Mecp2	C	A	X: 74,035,841	R344L	possibly damaging	Het
Olfr1006	T	C	2: 85,674,357	T265A	probably benign	Het
Olfr1427	A	G	19: 12,099,636	M1T	probably null	Het
Olfr1469	G	T	19: 13,410,750	M60I	probably damaging	Het
Olfr392	T	G	11: 73,814,786	T99P	probably damaging	Het
Olfr957	T	C	9: 39,511,046	I225V	possibly damaging	Het
Olfr969	T	G	9: 39,795,378	M1R	probably null	Het
Rasgrp1	T	C	2: 117,288,663	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,985,675	S185T	possibly damaging	Het
Rd3	A	T	1: 191,985,322	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,250,356	D148V	probably damaging	Het
Rnf43	C	A	11: 87,664,716	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,102,108	V21A	probably benign	Het
Sept9	T	C	11: 117,352,643	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,219,656	H103R	probably benign	Het
Ssh2	A	G	11: 77,449,906	D628G	probably damaging	Het
Tmem119	A	G	5: 113,795,485	F85S	probably damaging	Het
Tpp1	A	T	7: 105,747,729	I398N	probably benign	Het
Ttc3	T	C	16: 94,390,207	Y203H	probably benign	Het
Vars	G	T	17: 35,013,873	V898L	probably benign	Het
Vmn1r85	A	C	7: 13,085,154	V21G	probably damaging	Het
Zfp521	T	C	18: 13,938,988	H65R	possibly damaging	Het

Other mutations in Cndp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Cndp2	APN	18	84677376	missense	probably damaging	1.00
IGL01143:Cndp2	APN	18	84677317	critical splice donor site	probably null
IGL01310:Cndp2	APN	18	84670877	missense	possibly damaging	0.95
IGL01408:Cndp2	APN	18	84670911	missense	probably benign
IGL02095:Cndp2	APN	18	84681032	missense	possibly damaging	0.67
R1108:Cndp2	UTSW	18	84675060	missense	probably damaging	1.00
R1264:Cndp2	UTSW	18	84678791	missense	possibly damaging	0.88
R1466:Cndp2	UTSW	18	84677315	splice site	probably benign
R1584:Cndp2	UTSW	18	84677315	splice site	probably benign
R2363:Cndp2	UTSW	18	84668569	missense	probably damaging	0.96
R2383:Cndp2	UTSW	18	84675090	missense	possibly damaging	0.82
R3153:Cndp2	UTSW	18	84668597	missense	probably benign	0.02
R4590:Cndp2	UTSW	18	84669808	missense	probably damaging	1.00
R4788:Cndp2	UTSW	18	84675164	missense	probably damaging	1.00
R5033:Cndp2	UTSW	18	84670829	missense	possibly damaging	0.94
R5154:Cndp2	UTSW	18	84668602	missense	probably benign	0.00
R5178:Cndp2	UTSW	18	84675028	missense	probably benign	0.00
R5326:Cndp2	UTSW	18	84672076	missense	probably damaging	1.00
R5542:Cndp2	UTSW	18	84672076	missense	probably damaging	1.00
R5556:Cndp2	UTSW	18	84672124	missense	probably benign	0.38
R5722:Cndp2	UTSW	18	84668078	nonsense	probably null
R6431:Cndp2	UTSW	18	84675078	nonsense	probably null
R6682:Cndp2	UTSW	18	84677330	missense	probably benign	0.00
R7036:Cndp2	UTSW	18	84669945	missense	possibly damaging	0.94
R7728:Cndp2	UTSW	18	84672077	missense	probably benign	0.00
R7806:Cndp2	UTSW	18	84670820	missense	probably benign
R8018:Cndp2	UTSW	18	84668602	missense	probably benign	0.00

Posted On

2013-12-09