Mutagenetix > Incidental Mutation

Incidental Mutation 'R4564:Cndp1'

343273

Institutional Source

Beutler Lab

Gene Symbol

Cndp1

Ensembl Gene

ENSMUSG00000056162

Gene Name

carnosine dipeptidase 1

Synonyms

Cn1

MMRRC Submission

041789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84628634-84668220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84640411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 265 (I265F)

Ref Sequence

ENSEMBL: ENSMUSP00000069699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070139]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070139
AA Change: I265F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: I265F

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M20	103	477	4.3e-33	PFAM
Pfam:M20_dimer	216	377	3.4e-17	PFAM

Meta Mutation Damage Score

0.5716

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad3a	C	T	4: 155,831,766 (GRCm39)		probably null	Het
Bach2	T	G	4: 32,563,338 (GRCm39)	S602A	probably damaging	Het
Ccl19	G	T	4: 42,756,295 (GRCm39)	S12R	probably damaging	Het
Cfap54	T	C	10: 92,675,402 (GRCm39)		probably benign	Het
Cnot3	G	A	7: 3,656,257 (GRCm39)	R181H	probably damaging	Het
Dicer1	T	A	12: 104,671,010 (GRCm39)	K1011*	probably null	Het
Dip2b	G	A	15: 100,055,139 (GRCm39)	W99*	probably null	Het
Fpr-rs6	A	T	17: 20,403,168 (GRCm39)	Y64*	probably null	Het
Fubp1	C	A	3: 151,928,573 (GRCm39)	Y480*	probably null	Het
Gfra1	T	C	19: 58,227,682 (GRCm39)		probably null	Het
Gm10770	T	C	2: 150,020,831 (GRCm39)	T229A	probably benign	Het
Gm826	A	C	2: 160,153,913 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,197,095 (GRCm39)	V217I	possibly damaging	Het
Hectd4	T	C	5: 121,488,494 (GRCm39)	I3595T	probably benign	Het
Lmln	A	G	16: 32,930,226 (GRCm39)	E561G	probably benign	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Man2a2	T	A	7: 80,018,586 (GRCm39)	Y91F	probably benign	Het
Map4k4	A	G	1: 40,028,135 (GRCm39)	T319A	probably damaging	Het
Mcm6	G	T	1: 128,271,196 (GRCm39)	H474Q	probably damaging	Het
Mn1	C	G	5: 111,568,533 (GRCm39)	N834K	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Niban3	T	C	8: 72,057,704 (GRCm39)		probably benign	Het
Npas2	A	G	1: 39,326,647 (GRCm39)	D44G	probably damaging	Het
Npc1	C	T	18: 12,324,789 (GRCm39)	G1235R	probably damaging	Het
Olfml2a	C	T	2: 38,850,306 (GRCm39)	T674I	probably benign	Het
Or4f58	A	G	2: 111,852,112 (GRCm39)	L29P	possibly damaging	Het
Pgap6	A	G	17: 26,336,837 (GRCm39)	R252G	possibly damaging	Het
Plxnb1	C	T	9: 108,942,488 (GRCm39)	A1779V	probably benign	Het
Ppil3	T	A	1: 58,470,481 (GRCm39)	D123V	probably damaging	Het
Prr23a3	A	G	9: 98,747,190 (GRCm39)	E48G	probably damaging	Het
Prr5l	T	C	2: 101,577,094 (GRCm39)	E110G	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
R3hdm1	C	T	1: 128,149,396 (GRCm39)	T839M	probably benign	Het
Rasgrf2	G	A	13: 92,033,773 (GRCm39)	Q544*	probably null	Het
Riok3	C	A	18: 12,281,936 (GRCm39)	R302S	probably damaging	Het
Rnf145	A	G	11: 44,439,635 (GRCm39)	K144E	probably benign	Het
Sin3b	A	C	8: 73,480,209 (GRCm39)	T904P	probably damaging	Het
Skint4	C	T	4: 111,977,066 (GRCm39)	T152M	probably damaging	Het
Slc22a2	A	G	17: 12,828,943 (GRCm39)	I350V	probably benign	Het
Slc6a11	G	T	6: 114,108,323 (GRCm39)	G29V	probably benign	Het
Speg	A	C	1: 75,368,478 (GRCm39)	H676P	probably damaging	Het
St6gal2	T	A	17: 55,789,648 (GRCm39)	H227Q	probably damaging	Het
Strn3	A	G	12: 51,680,404 (GRCm39)	S399P	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Tecpr2	T	A	12: 110,921,219 (GRCm39)	M1264K	probably benign	Het
Trpm6	T	C	19: 18,809,961 (GRCm39)	L1119P	possibly damaging	Het
Upf2	A	C	2: 6,032,123 (GRCm39)	T890P	unknown	Het
Upk1b	T	A	16: 38,600,469 (GRCm39)	K170N	probably benign	Het
Vmn1r78	A	T	7: 11,886,485 (GRCm39)	Y32F	probably damaging	Het
Vps11	A	G	9: 44,272,894 (GRCm39)	F12S	probably damaging	Het
Zfp318	T	A	17: 46,723,741 (GRCm39)	C1915S	possibly damaging	Het
Zfp346	A	C	13: 55,261,520 (GRCm39)	R103S	probably damaging	Het

Other mutations in Cndp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Cndp1	APN	18	84,629,790 (GRCm39)	missense	probably benign	0.05
IGL01326:Cndp1	APN	18	84,640,357 (GRCm39)	missense	probably benign	0.01
IGL01762:Cndp1	APN	18	84,640,411 (GRCm39)	missense	probably damaging	1.00
IGL02061:Cndp1	APN	18	84,652,751 (GRCm39)	missense	probably damaging	1.00
IGL02731:Cndp1	APN	18	84,650,083 (GRCm39)	missense	probably damaging	0.99
R0098:Cndp1	UTSW	18	84,646,949 (GRCm39)	missense	probably damaging	0.99
R0098:Cndp1	UTSW	18	84,646,949 (GRCm39)	missense	probably damaging	0.99
R0285:Cndp1	UTSW	18	84,636,363 (GRCm39)	missense	possibly damaging	0.72
R0494:Cndp1	UTSW	18	84,637,658 (GRCm39)	missense	probably benign	0.01
R0967:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R0968:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R0969:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R1069:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R1170:Cndp1	UTSW	18	84,629,750 (GRCm39)	missense	probably benign	0.00
R1340:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R1414:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R1432:Cndp1	UTSW	18	84,652,777 (GRCm39)	splice site	probably benign
R1891:Cndp1	UTSW	18	84,637,758 (GRCm39)	missense	probably null	1.00
R3912:Cndp1	UTSW	18	84,650,124 (GRCm39)	missense	probably benign	0.00
R4024:Cndp1	UTSW	18	84,646,938 (GRCm39)	missense	probably damaging	1.00
R4238:Cndp1	UTSW	18	84,636,342 (GRCm39)	missense	probably benign
R4989:Cndp1	UTSW	18	84,650,025 (GRCm39)	missense	probably damaging	0.99
R5015:Cndp1	UTSW	18	84,650,036 (GRCm39)	missense	probably damaging	1.00
R5108:Cndp1	UTSW	18	84,650,186 (GRCm39)	missense	probably damaging	1.00
R5502:Cndp1	UTSW	18	84,650,138 (GRCm39)	missense	possibly damaging	0.56
R5835:Cndp1	UTSW	18	84,630,958 (GRCm39)	missense	probably benign	0.00
R6396:Cndp1	UTSW	18	84,650,135 (GRCm39)	missense	probably benign
R6549:Cndp1	UTSW	18	84,654,309 (GRCm39)	missense	probably benign	0.04
R7251:Cndp1	UTSW	18	84,640,322 (GRCm39)	missense	probably benign
R7465:Cndp1	UTSW	18	84,637,666 (GRCm39)	missense	probably damaging	1.00
R7638:Cndp1	UTSW	18	84,654,174 (GRCm39)	missense	probably benign	0.36
R7812:Cndp1	UTSW	18	84,655,994 (GRCm39)	missense	probably benign
R7921:Cndp1	UTSW	18	84,640,383 (GRCm39)	missense	probably benign	0.11
R8408:Cndp1	UTSW	18	84,650,049 (GRCm39)	missense	possibly damaging	0.71
R8693:Cndp1	UTSW	18	84,646,938 (GRCm39)	missense	probably damaging	1.00
R9688:Cndp1	UTSW	18	84,655,982 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGGAGCAGCATCCTC -3'
(R):5'- AGTCCGCCTTGTAACCAGTTC -3'

Sequencing Primer
(F):5'- GAGCAGCATCCTCATTTGGATCATG -3'
(R):5'- ACCTCTTGGTTAAATGGAATTGTTGC -3'

Posted On

2015-09-24