Mutagenetix > Incidental Mutation

Incidental Mutation 'R2363:Cndp2'

247254

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

040344-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84668569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 443 (G443S)

Ref Sequence

ENSEMBL: ENSMUSP00000128696 (fasta)

Gene Model

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

AlphaFold

Q9D1A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025546
AA Change: G443S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: G443S

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 damaging
Transcript: ENSMUST00000168419
AA Change: G443S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: G443S

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (51/52)

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
Abtb2	T	C	2: 103,567,183	C153R	probably damaging	Het
Adam23	A	G	1: 63,557,491		probably null	Het
Adpgk	G	T	9: 59,314,853	M354I	probably benign	Het
Atmin	G	T	8: 116,954,914		probably null	Het
C1rl	G	A	6: 124,509,110	G480D	probably benign	Het
C4b	G	A	17: 34,736,058		probably benign	Het
Cacnb1	G	A	11: 98,012,846	T127I	possibly damaging	Het
Cmya5	A	T	13: 93,093,702	V1626E	probably benign	Het
Crb1	A	G	1: 139,337,278	I134T	possibly damaging	Het
Dnaaf3	T	C	7: 4,532,277		probably null	Het
Enam	C	T	5: 88,503,149	P764L	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbln1	G	A	15: 85,227,140		probably null	Het
Flnb	A	G	14: 7,945,950	I2452V	possibly damaging	Het
Fmo3	A	T	1: 162,954,315	W490R	probably damaging	Het
Gabrb1	C	T	5: 71,869,573	R106*	probably null	Het
Galnt4	C	T	10: 99,109,061	T216I	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Golph3	A	G	15: 12,349,563	D223G	probably benign	Het
Herc4	T	A	10: 63,315,694	F905I	possibly damaging	Het
Il23r	T	C	6: 67,452,417	T314A	probably benign	Het
Lrrtm4	T	C	6: 80,021,874	W90R	probably damaging	Het
Maml2	C	T	9: 13,621,245	T585I	probably damaging	Het
Mpp3	G	A	11: 102,020,486	A170V	probably damaging	Het
Naip6	T	A	13: 100,316,420	K44N	possibly damaging	Het
Olfr1301	C	T	2: 111,754,794	P182S	probably damaging	Het
Olfr1328	C	T	4: 118,934,033	E272K	probably benign	Het
Olfr23	A	G	11: 73,940,356	T37A	possibly damaging	Het
Olfr250	T	C	9: 38,368,098	I174T	probably damaging	Het
Olfr432	C	T	1: 174,051,248	R292C	probably damaging	Het
Olfr523	A	G	7: 140,176,965	T282A	probably damaging	Het
Olfr58	T	G	9: 19,783,596	I154M	probably benign	Het
Olfr65	T	A	7: 103,907,060	M207K	probably benign	Het
Pak1	T	A	7: 97,886,314	V204E	probably benign	Het
Pcdhb10	T	A	18: 37,414,137	C755*	probably null	Het
Pcdhb20	A	G	18: 37,505,672	Y417C	probably damaging	Het
Pkd1l3	G	T	8: 109,628,709	W723L	probably benign	Het
Plin1	C	T	7: 79,726,391		probably null	Het
Polr3a	A	T	14: 24,475,892		probably null	Het
Ranbp2	A	T	10: 58,478,936	K1826I	possibly damaging	Het
Rapgef1	A	G	2: 29,736,596	I970V	possibly damaging	Het
Rdx	C	A	9: 52,068,873	F255L	probably damaging	Het
Rp1l1	A	T	14: 64,029,998	H1011L	possibly damaging	Het
Serpina6	T	C	12: 103,648,609	D326G	probably benign	Het
Sh3tc2	A	G	18: 61,990,895	E909G	probably benign	Het
Shprh	T	A	10: 11,171,953	V1015D	probably damaging	Het
Slfn8	A	T	11: 83,004,094	Y629N	probably damaging	Het
Triml1	A	G	8: 43,141,371	S8P	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
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
R9455:Cndp2	UTSW	18	84672121	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATCCTGGGAGCAAATGGCC -3'
(R):5'- GTCTGGACTCATTGTTGCTAAG -3'

Sequencing Primer
(F):5'- CCTGGGAGCAAATGGCCATTATTTC -3'
(R):5'- ACTCATTGTTGCTAAGTGGTGGC -3'

Posted On

2014-10-30