Mutagenetix > Incidental Mutation

Incidental Mutation 'R7728:Cndp2'

595667

Institutional Source

Beutler Lab

Gene Symbol

Cndp2

Ensembl Gene

ENSMUSG00000024644

Gene Name

CNDP dipeptidase 2 (metallopeptidase M20 family)

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84672077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 247 (M247L)

Ref Sequence

ENSEMBL: ENSMUSP00000025546 (fasta)

Gene Model

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

AlphaFold

Q9D1A2

PDB Structure

Crystal structure of mouse carnosinase CN2 complexed with MN and bestatin [X-RAY DIFFRACTION]
Crystal structure of mouse carnosinase CN2 complexed with ZN and bestatin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000025546
AA Change: M247L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: M247L

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: M247L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: M247L

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

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,256,539	P851S	probably damaging	Het
2210408I21Rik	T	A	13: 77,316,477	L931Q	possibly damaging	Het
Abcg3	T	G	5: 104,936,078	I609L	probably benign	Het
Acly	A	T	11: 100,516,797	F242L	probably damaging	Het
Acly	C	T	11: 100,519,687	G155D	probably benign	Het
Acsl5	T	A	19: 55,287,853	L370*	probably null	Het
Arhgef17	G	A	7: 100,930,068	P558S	probably benign	Het
Bhlha9	T	A	11: 76,673,089	S181T	possibly damaging	Het
Birc6	A	G	17: 74,622,105	T2331A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C530008M17Rik	T	C	5: 76,857,469	V559A	unknown	Het
Ccdc7b	A	T	8: 129,072,690	R83W	unknown	Het
Churc1	T	A	12: 76,773,278	N20K	probably benign	Het
Clec9a	T	C	6: 129,415,235	S63P	possibly damaging	Het
Cpvl	C	T	6: 53,925,290	S329N	probably benign	Het
Csmd1	A	T	8: 16,231,271	W747R	probably damaging	Het
Dhx40	A	T	11: 86,771,933	D644E	probably damaging	Het
Disp2	A	T	2: 118,791,480	N898Y	probably benign	Het
Dnah3	G	A	7: 119,938,828	H666Y	probably damaging	Het
Dnajc2	C	T	5: 21,770,540	D222N	possibly damaging	Het
Epha5	A	T	5: 84,067,408	M826K	possibly damaging	Het
Fam13a	T	C	6: 58,954,299	D432G	possibly damaging	Het
Fkbp6	A	G	5: 135,339,544	L276P	probably damaging	Het
Gars	G	T	6: 55,050,386	W155L	probably damaging	Het
Gm12258	C	A	11: 58,859,692	H564Q	unknown	Het
Gm3127	A	G	14: 4,166,059	D79G	possibly damaging	Het
Gm6614	C	A	6: 141,987,710	E470*	probably null	Het
H2-Q10	T	A	17: 35,470,838	I119N	probably damaging	Het
Harbi1	A	G	2: 91,712,281	D29G	possibly damaging	Het
Hp1bp3	T	A	4: 138,225,996	M155K	probably damaging	Het
Itpr3	T	G	17: 27,098,114	M781R	probably damaging	Het
Kat7	T	C	11: 95,300,081	K101E	probably benign	Het
Kif7	A	G	7: 79,710,730	I299T	possibly damaging	Het
Krt34	A	G	11: 100,039,985		probably null	Het
Krt81	A	G	15: 101,460,206	Y389H	probably damaging	Het
Lrrc36	A	T	8: 105,449,498	E168V	probably benign	Het
Lrrk1	A	G	7: 66,262,715	V1699A	probably benign	Het
Mdh1b	T	A	1: 63,715,270	S380C	probably benign	Het
Mlkl	A	G	8: 111,333,619	L45P	probably damaging	Het
Mmp13	T	A	9: 7,274,004	D159E	probably benign	Het
Nanp	A	G	2: 151,030,915	V31A	possibly damaging	Het
Nbeal1	T	C	1: 60,244,824	S846P	probably damaging	Het
Neb	G	A	2: 52,183,299	R5982C	probably damaging	Het
Nebl	G	T	2: 17,370,514	F93L		Het
Olfr745	G	A	14: 50,642,392	G31E	probably benign	Het
Pcdhb11	A	T	18: 37,423,477	N620I	probably damaging	Het
Pcdhgb2	A	G	18: 37,691,207	Y417C	probably damaging	Het
Pwp2	T	C	10: 78,178,561	T402A	probably benign	Het
Ralgapb	T	C	2: 158,482,503		probably null	Het
Rexo4	G	A	2: 26,964,230	A30V	probably benign	Het
Rrs1	T	A	1: 9,546,398	M292K	possibly damaging	Het
Shroom3	C	A	5: 92,683,707	P14Q	possibly damaging	Het
Slc16a10	T	A	10: 40,040,758	I383F	probably damaging	Het
Slk	C	A	19: 47,620,816	P736Q	probably damaging	Het
St6galnac2	T	A	11: 116,679,985	H259L	probably benign	Het
Stambpl1	T	G	19: 34,236,321	S317A	possibly damaging	Het
Syvn1	A	G	19: 6,051,205	T429A	unknown	Het
Tbc1d9	A	T	8: 83,259,350	E828V	probably damaging	Het
Tmtc2	A	C	10: 105,271,497		probably null	Het
Trmt11	A	G	10: 30,587,501	I206T	possibly damaging	Het
Trp53bp1	A	C	2: 121,207,899	L1436R	probably damaging	Het
Ttll5	C	T	12: 85,956,632	R1095W	probably benign	Het
Utp20	A	G	10: 88,798,341	F831S	probably damaging	Het
Vmn2r109	T	A	17: 20,552,855	Q501H	probably damaging	Het
Zcchc17	A	G	4: 130,337,019		probably null	Het
Zfhx3	A	G	8: 108,951,569	M3084V	probably benign	Het
Zfp81	T	C	17: 33,336,817	N12S	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
IGL01520:Cndp2	APN	18	84668607	missense	probably benign	0.03
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
R7806:Cndp2	UTSW	18	84670820	missense	probably benign
R8018:Cndp2	UTSW	18	84668602	missense	probably benign	0.00
R8929:Cndp2	UTSW	18	84675173	missense	probably benign	0.20
R8949:Cndp2	UTSW	18	84675005	missense	probably damaging	1.00
R9127:Cndp2	UTSW	18	84680996	missense	probably benign	0.01
R9455:Cndp2	UTSW	18	84672121	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGGCAGCTCTAGACATGATG -3'
(R):5'- GCTTCAATGCTTGAGGGAGC -3'

Sequencing Primer
(F):5'- GGATCCTTTAAATAGAAAATGCCCAG -3'
(R):5'- GACTGGAGAACTGTCAGTCTTAC -3'

Posted On

2019-11-12