Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Cndp2'

73651

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cndp2

Ensembl Gene

ENSMUSG00000024644

Gene Name

CNDP dipeptidase 2

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

84685590-84703827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84689002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 260 (P260Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128696 (fasta)

Gene Model

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

AlphaFold

Q9D1A2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025546
AA Change: P260Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: P260Q

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

possibly damaging
Transcript: ENSMUST00000168419
AA Change: P260Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: P260Q

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930431F12Rik	A	T	5: 45,125,156 (GRCm39)		noncoding transcript	Het
Abca12	A	T	1: 71,323,315 (GRCm39)	I1589N	probably benign	Het
Abca8a	T	G	11: 109,950,801 (GRCm39)	D888A	probably benign	Het
Adam5	C	T	8: 25,232,150 (GRCm39)		probably benign	Het
Amer1	A	T	X: 94,470,716 (GRCm39)	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,783,968 (GRCm39)	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,575,794 (GRCm39)	N751K	probably damaging	Het
Cfi	T	A	3: 129,652,080 (GRCm39)	N250K	probably damaging	Het
Cnnm3	A	G	1: 36,551,956 (GRCm39)	D322G	probably benign	Het
Crybg1	A	T	10: 43,851,054 (GRCm39)	S1606T	possibly damaging	Het
Crybg1	A	G	10: 43,879,596 (GRCm39)	S531P	probably damaging	Het
Espnl	A	T	1: 91,268,333 (GRCm39)	K320*	probably null	Het
Glt1d1	A	G	5: 127,709,384 (GRCm39)	T13A	possibly damaging	Het
Gpam	C	T	19: 55,066,764 (GRCm39)	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,846,705 (GRCm39)	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,800 (GRCm39)	I572V	probably damaging	Het
Gtpbp4	A	T	13: 9,027,308 (GRCm39)	N502K	probably benign	Het
Herpud2	T	C	9: 25,062,247 (GRCm39)	M6V	probably benign	Het
Igdcc3	T	C	9: 65,085,724 (GRCm39)	V263A	probably damaging	Het
Il33	G	A	19: 29,930,156 (GRCm39)	A65T	probably benign	Het
Itga9	T	A	9: 118,598,227 (GRCm39)	M1K	probably null	Het
Izumo3	T	C	4: 92,035,217 (GRCm39)		probably benign	Het
Kdr	G	A	5: 76,110,261 (GRCm39)	P909S	probably damaging	Het
Kirrel1	C	T	3: 86,997,182 (GRCm39)	E262K	probably benign	Het
Krt25	T	A	11: 99,208,996 (GRCm39)	Q278L	probably benign	Het
Lgi2	G	T	5: 52,711,807 (GRCm39)	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,676,301 (GRCm39)	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,554,661 (GRCm39)	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,366,902 (GRCm39)		probably null	Het
Nuf2	A	T	1: 169,326,431 (GRCm39)	V440E	probably benign	Het
Or10ag60	T	A	2: 87,437,852 (GRCm39)	I40N	possibly damaging	Het
Or4f14	C	T	2: 111,742,652 (GRCm39)	V208M	probably benign	Het
Or51ah3	C	T	7: 103,210,008 (GRCm39)	S108F	probably benign	Het
Or6c205	T	C	10: 129,086,865 (GRCm39)	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,405,974 (GRCm39)	D75G	probably damaging	Het
Pgm5	A	G	19: 24,812,130 (GRCm39)	V134A	possibly damaging	Het
Prkch	A	G	12: 73,805,787 (GRCm39)	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,515,822 (GRCm39)	E968V	probably benign	Het
Slc25a30	T	C	14: 76,007,037 (GRCm39)	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,292,171 (GRCm39)		probably null	Het
Spmip4	C	A	6: 50,551,175 (GRCm39)	V425L	probably benign	Het
Tbc1d14	T	A	5: 36,700,544 (GRCm39)	K275*	probably null	Het
Tnc	T	C	4: 63,931,314 (GRCm39)	T799A	probably benign	Het
Trdn	A	T	10: 33,181,094 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,706,879 (GRCm39)		probably benign	Het
Uaca	T	C	9: 60,779,507 (GRCm39)	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,434,116 (GRCm39)	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,317,200 (GRCm39)		probably null	Het
Xpc	T	C	6: 91,467,089 (GRCm39)	K915E	probably benign	Het
Zfp318	T	C	17: 46,724,153 (GRCm39)	I2052T	possibly damaging	Het

Other mutations in Cndp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Cndp2	APN	18	84,695,501 (GRCm39)	missense	probably damaging	1.00
IGL01143:Cndp2	APN	18	84,695,442 (GRCm39)	critical splice donor site	probably null
IGL01408:Cndp2	APN	18	84,689,036 (GRCm39)	missense	probably benign
IGL01520:Cndp2	APN	18	84,686,732 (GRCm39)	missense	probably benign	0.03
IGL02095:Cndp2	APN	18	84,699,157 (GRCm39)	missense	possibly damaging	0.67
R1108:Cndp2	UTSW	18	84,693,185 (GRCm39)	missense	probably damaging	1.00
R1264:Cndp2	UTSW	18	84,696,916 (GRCm39)	missense	possibly damaging	0.88
R1466:Cndp2	UTSW	18	84,695,440 (GRCm39)	splice site	probably benign
R1584:Cndp2	UTSW	18	84,695,440 (GRCm39)	splice site	probably benign
R2363:Cndp2	UTSW	18	84,686,694 (GRCm39)	missense	probably damaging	0.96
R2383:Cndp2	UTSW	18	84,693,215 (GRCm39)	missense	possibly damaging	0.82
R3153:Cndp2	UTSW	18	84,686,722 (GRCm39)	missense	probably benign	0.02
R4590:Cndp2	UTSW	18	84,687,933 (GRCm39)	missense	probably damaging	1.00
R4788:Cndp2	UTSW	18	84,693,289 (GRCm39)	missense	probably damaging	1.00
R5033:Cndp2	UTSW	18	84,688,954 (GRCm39)	missense	possibly damaging	0.94
R5154:Cndp2	UTSW	18	84,686,727 (GRCm39)	missense	probably benign	0.00
R5178:Cndp2	UTSW	18	84,693,153 (GRCm39)	missense	probably benign	0.00
R5326:Cndp2	UTSW	18	84,690,201 (GRCm39)	missense	probably damaging	1.00
R5542:Cndp2	UTSW	18	84,690,201 (GRCm39)	missense	probably damaging	1.00
R5556:Cndp2	UTSW	18	84,690,249 (GRCm39)	missense	probably benign	0.38
R5722:Cndp2	UTSW	18	84,686,203 (GRCm39)	nonsense	probably null
R6431:Cndp2	UTSW	18	84,693,203 (GRCm39)	nonsense	probably null
R6682:Cndp2	UTSW	18	84,695,455 (GRCm39)	missense	probably benign	0.00
R7036:Cndp2	UTSW	18	84,688,070 (GRCm39)	missense	possibly damaging	0.94
R7728:Cndp2	UTSW	18	84,690,202 (GRCm39)	missense	probably benign	0.00
R7806:Cndp2	UTSW	18	84,688,945 (GRCm39)	missense	probably benign
R8018:Cndp2	UTSW	18	84,686,727 (GRCm39)	missense	probably benign	0.00
R8929:Cndp2	UTSW	18	84,693,298 (GRCm39)	missense	probably benign	0.20
R8949:Cndp2	UTSW	18	84,693,130 (GRCm39)	missense	probably damaging	1.00
R9127:Cndp2	UTSW	18	84,699,121 (GRCm39)	missense	probably benign	0.01
R9455:Cndp2	UTSW	18	84,690,246 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07