Mutagenetix > Incidental Mutation

Incidental Mutation 'R9455:Cndp2'

714562

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 #

R9455 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84672121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 232 (Y232F)

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: Y232F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: Y232F

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: Y232F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: Y232F

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,403,897	Y3740H	probably damaging	Het
Acsl6	G	T	11: 54,319,926		probably benign	Het
Adamts5	C	T	16: 85,870,129	D492N	probably damaging	Het
Als2	T	C	1: 59,180,137	E1218G	probably damaging	Het
BC055324	G	T	1: 163,954,152	T902K	probably benign	Het
Bcl2l15	C	T	3: 103,836,053	T90I	unknown	Het
Bsn	A	G	9: 108,111,332	V2407A	unknown	Het
Casp8ap2	T	C	4: 32,643,924	M999T	possibly damaging	Het
Ccdc66	G	A	14: 27,486,915	P461S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cep295	A	T	9: 15,333,750	S1137T	possibly damaging	Het
Chd7	A	G	4: 8,752,061	Y186C	unknown	Het
Clca3b	T	A	3: 144,823,262	T884S	unknown	Het
Cx3cr1	A	T	9: 120,051,593	Y248N	probably damaging	Het
Dnm3	A	T	1: 162,320,955	N282K	possibly damaging	Het
Emilin2	T	C	17: 71,274,490	I414V	probably benign	Het
F3	A	T	3: 121,734,217	N288I	probably damaging	Het
Fat4	T	C	3: 38,891,263	L1435P		Het
Fbxw14	A	T	9: 109,274,499	N371K	probably benign	Het
Fn1	T	A	1: 71,607,953	E1559D	probably benign	Het
Frrs1	T	A	3: 116,902,323	M497K	possibly damaging	Het
Gm45861	C	T	8: 27,551,366	Q1000*	probably null	Het
Gm5415	A	T	1: 32,546,826	M1K	probably null	Het
Gpr152	T	C	19: 4,143,845	S462P	probably benign	Het
Irgq	A	G	7: 24,531,792	N136S	probably benign	Het
Kdm2b	T	C	5: 122,961,474	Y134C	probably damaging	Het
Klf12	A	T	14: 100,109,790	L35H	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Ksr1	A	T	11: 79,020,776	C727S	possibly damaging	Het
Lpin3	G	T	2: 160,895,339	R102L	probably benign	Het
Ltv1	T	C	10: 13,182,373	E229G	probably damaging	Het
Ly6f	T	A	15: 75,269,799	Y30*	probably null	Het
Map2k7	C	G	8: 4,243,957	R168G	probably damaging	Het
Mep1a	T	C	17: 43,494,976	E100G	probably benign	Het
Mrgpra6	T	A	7: 47,189,219	Y46F	probably damaging	Het
Mroh6	C	A	15: 75,888,056	R143L	probably benign	Het
Myom2	T	A	8: 15,106,293	H713Q	probably benign	Het
Ndn	C	T	7: 62,348,589	P61L	possibly damaging	Het
Olfr65	G	T	7: 103,906,993	V182F		Het
Pear1	T	A	3: 87,759,181	T72S	possibly damaging	Het
Sel1l3	T	A	5: 53,131,815	N888I	probably damaging	Het
Sell	A	T	1: 164,066,649	T171S	probably benign	Het
Sin3b	G	T	8: 72,724,053	A37S	possibly damaging	Het
Sipa1l1	T	C	12: 82,387,625	F723S	probably damaging	Het
Slc26a8	T	C	17: 28,644,614	T724A	probably damaging	Het
Slc51a	T	G	16: 32,486,195	N25H	probably damaging	Het
Slc9a4	T	C	1: 40,629,452	F752L	probably benign	Het
Slco4a1	A	C	2: 180,473,577	D649A	probably benign	Het
Tax1bp1	T	A	6: 52,766,044	H805Q	probably damaging	Het
Tgfb1i1	T	C	7: 128,252,837	F303L	probably damaging	Het
Tsg101	A	T	7: 46,913,403	D34E	probably damaging	Het
Tspoap1	T	C	11: 87,770,533	S604P	probably damaging	Het
Ttll2	C	A	17: 7,352,293	W78C	probably damaging	Het
Ttn	A	G	2: 76,918,990	F3905S	possibly damaging	Het
Txnrd2	G	T	16: 18,429,865	C57F	probably damaging	Het
Vcan	A	T	13: 89,689,333	D2697E	probably damaging	Het
Vwa8	G	A	14: 79,062,675	V983I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTAAGCCCATGAAGGATGCTG -3'
(R):5'- GTGCATGTGGTCTGCACATC -3'

Sequencing Primer
(F):5'- CTGGAACATACTAGGCACGTGC -3'
(R):5'- GGTCTGCACATCAGGAGTCTATC -3'

Posted On

2022-06-15