Mutagenetix > Incidental Mutation

Incidental Mutation 'R5556:Cndp2'

435417

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

043113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84672124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 231 (V231A)

Ref Sequence

ENSEMBL: ENSMUSP00000128696 (fasta)

Gene Model

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

AlphaFold

Q9D1A2

Predicted Effect

probably benign
Transcript: ENSMUST00000025546
AA Change: V231A

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: V231A

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: V231A

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: V231A

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	A	1: 105,693,167	Q456K	probably benign	Het
4933427D14Rik	T	A	11: 72,175,200		probably null	Het
Abca13	A	T	11: 9,258,546	I240F	possibly damaging	Het
Accs	A	G	2: 93,836,083	Y420H	probably damaging	Het
Aco2	T	C	15: 81,889,319	Y20H	probably damaging	Het
Adck2	T	C	6: 39,583,935	V419A	probably benign	Het
Bahd1	T	A	2: 118,916,270	N123K	probably damaging	Het
BC027072	T	C	17: 71,752,425	K86E	possibly damaging	Het
Cast	A	G	13: 74,695,889		probably null	Het
Cd164l2	T	A	4: 133,223,705	V157E	probably damaging	Het
Cdk11b	C	T	4: 155,634,147	Q185*	probably null	Het
Ces2g	T	C	8: 104,967,442	F470S	probably benign	Het
Cherp	C	G	8: 72,467,980	Q313H	probably damaging	Het
Chrna4	A	G	2: 181,033,980	V110A	possibly damaging	Het
Cst7	A	T	2: 150,570,568	H17L	probably benign	Het
Decr1	C	T	4: 15,919,244	D300N	probably damaging	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dgkb	T	G	12: 38,127,364	V230G	probably damaging	Het
Dis3l2	T	C	1: 86,973,404	V439A	possibly damaging	Het
Disp3	C	T	4: 148,258,157	G612D	probably benign	Het
Dock7	T	C	4: 98,944,735	T1962A	probably damaging	Het
Fam189a1	A	G	7: 64,856,209	F96S	probably damaging	Het
Fibp	T	A	19: 5,464,199	V304E	possibly damaging	Het
Flt3	T	A	5: 147,332,997		probably null	Het
Kifc3	G	A	8: 95,108,459	Q233*	probably null	Het
Klhl42	C	A	6: 147,108,112	S483Y	probably benign	Het
Map3k19	G	A	1: 127,834,547	R276*	probably null	Het
Mecom	A	G	3: 30,238,100	S87P	probably damaging	Het
Med13	A	G	11: 86,327,838	V416A	probably benign	Het
Mepe	G	A	5: 104,338,212	G406D	probably damaging	Het
Met	T	G	6: 17,534,176	L673V	probably benign	Het
Mlh3	A	T	12: 85,268,493	Y306*	probably null	Het
Nrxn2	C	A	19: 6,490,091	A814E	probably damaging	Het
Nsmaf	C	T	4: 6,398,621	V828I	probably benign	Het
Olfr137	T	A	17: 38,305,073	K129N	possibly damaging	Het
Olfr824	A	T	10: 130,126,859	L66H	probably damaging	Het
Panx1	A	G	9: 15,007,633	I310T	possibly damaging	Het
Pcdhb6	T	A	18: 37,334,389	L121Q	probably damaging	Het
Plekha7	G	A	7: 116,164,149	T406I	probably benign	Het
Prtg	T	C	9: 72,851,704	S447P	probably damaging	Het
Ptprr	A	G	10: 116,251,149	Y267C	probably damaging	Het
Rbpjl	A	G	2: 164,408,062	T134A	probably benign	Het
Rpe	C	A	1: 66,706,466	T55N	probably damaging	Het
Scn1a	T	C	2: 66,324,797	D606G	probably benign	Het
Setd5	T	A	6: 113,147,502	N1105K	probably benign	Het
Sh3d21	T	C	4: 126,162,236	N126D	possibly damaging	Het
Shank1	A	G	7: 44,344,315		probably benign	Het
Srgap3	T	A	6: 112,739,078	D627V	probably damaging	Het
Tacc2	T	A	7: 130,674,606	S1796T	probably damaging	Het
Tcrg-C4	A	T	13: 19,352,307	R178S	unknown	Het
Tmco3	G	A	8: 13,294,870	V217I	probably damaging	Het
Tspan10	A	T	11: 120,444,715	Y217F	possibly damaging	Het
Usp3	G	A	9: 66,544,021	T153M	possibly damaging	Het
Xdh	G	T	17: 73,897,764	T1067K	probably benign	Het
Zfp334	T	C	2: 165,380,584	D513G	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
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
R9455:Cndp2	UTSW	18	84672121	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCCCATGAAGGATGCTG -3'
(R):5'- TGTGCATGTGGTCTGCACATC -3'

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

Posted On

2016-10-24