Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Cndp2'

679774

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84675173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 154 (I154T)

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: I154T

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: I154T

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: I154T

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: I154T

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 180,172,937	K99E	unknown	Het
Agxt2	C	A	15: 10,393,744	L375I	probably benign	Het
Akap13	T	C	7: 75,609,004	S459P	probably benign	Het
Arfgef3	T	A	10: 18,603,455	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,493,756		probably benign	Het
Azi2	C	A	9: 118,049,976	T141K	probably damaging	Het
B4galt6	A	G	18: 20,688,365	S369P	possibly damaging	Het
BC051019	C	T	7: 109,716,026	E341K	probably damaging	Het
Bdh1	G	A	16: 31,456,894	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 106,666,238		probably benign	Het
Cdipt	T	G	7: 126,979,653	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,069,769		probably null	Het
Clip4	T	C	17: 71,831,208	L467S	probably damaging	Het
Cyp2j5	T	C	4: 96,658,740	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,309,749	I100F	probably benign	Het
Dppa5a	A	G	9: 78,367,883	S46P	probably benign	Het
Epyc	A	G	10: 97,675,745	D200G	probably benign	Het
Ern2	C	T	7: 122,170,140	A888T	probably benign	Het
Fndc3b	C	T	3: 27,542,104	S112N	probably damaging	Het
Fras1	T	C	5: 96,769,507	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,707,831	I733T	probably damaging	Het
Gdf3	C	T	6: 122,609,797	R57Q		Het
Grwd1	A	T	7: 45,830,632	D50E	probably damaging	Het
Hgf	G	T	5: 16,593,990	D339Y	probably benign	Het
Kat7	T	C	11: 95,306,156	D19G	probably damaging	Het
Lefty1	A	G	1: 180,937,725	E286G	probably damaging	Het
Lrriq3	T	C	3: 155,188,182	F507L	probably damaging	Het
Mcm4	T	A	16: 15,630,425	T423S	probably benign	Het
Metap1	T	C	3: 138,468,882	K247E	probably benign	Het
Muc4	T	G	16: 32,753,994	I1290S	probably benign	Het
Muc4	A	T	16: 32,754,017	T1298S	possibly damaging	Het
Nars	G	T	18: 64,511,824	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,452,363	E1121V	probably damaging	Het
Nebl	C	A	2: 17,393,180	E481*	probably null	Het
Pdap1	T	C	5: 145,132,862	E111G	probably damaging	Het
Pds5b	T	C	5: 150,719,914	F67S	probably damaging	Het
Pole	T	C	5: 110,297,788	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,689,137	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,667,548	M887K	probably damaging	Het
Sec24b	T	C	3: 130,009,858	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,647,367		probably benign	Het
Slain1	A	T	14: 103,685,728	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,137,311	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,030,990	H90R	unknown	Het
Slc44a4	A	T	17: 34,917,532	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,170,783	T340A	probably benign	Het
Sod2	C	A	17: 13,015,087	N195K	probably damaging	Het
Spg20	T	C	3: 55,128,558	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,375,602	A266V	probably benign	Het
Tbx15	T	A	3: 99,314,903	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,728,832	V26A	probably benign	Het
Trank1	T	A	9: 111,378,935	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,410		probably benign	Het
Ttn	A	T	2: 76,876,580	I9089N	unknown	Het
Unc13a	T	C	8: 71,651,191	T866A	probably benign	Het
Vmn1r212	T	A	13: 22,883,324	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,396,707	T847A	probably benign	Het
Zcchc6	A	G	13: 59,800,128	V793A	probably benign	Het
Zer1	A	G	2: 30,110,869	L180P	probably damaging	Het
Zfp445	T	G	9: 122,853,667	Y403S	probably benign	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
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
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'- TGAGGCCGTACGTGATACAC -3'
(R):5'- CAGGCTAAGATTCATTGCCCTTTTC -3'

Sequencing Primer
(F):5'- GATACACGGCTTATTCTTCCCCAG -3'
(R):5'- ATTGGCTCACTCTGTAAGCGAC -3'

Posted On

2021-08-02