Mutagenetix > Incidental Mutation

Incidental Mutation 'R8693:Cndp1'

668534

Institutional Source

Beutler Lab

Gene Symbol

Cndp1

Ensembl Gene

ENSMUSG00000056162

Gene Name

carnosine dipeptidase 1

Synonyms

Cn1

MMRRC Submission

068547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84628634-84668220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84646938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 250 (D250G)

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: D250G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: D250G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145981

Meta Mutation Damage Score

0.5997

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,474 (GRCm39)	S924P	probably benign	Het
Acacb	A	G	5: 114,364,844 (GRCm39)	H1508R	probably damaging	Het
Adam34	T	C	8: 44,104,641 (GRCm39)	M335V	probably benign	Het
Akap8	A	T	17: 32,529,625 (GRCm39)	N438K	probably damaging	Het
Alpi	C	A	1: 87,026,405 (GRCm39)	G529C	unknown	Het
Arhgap30	T	C	1: 171,225,094 (GRCm39)	V50A	probably damaging	Het
Armh1	T	C	4: 117,088,960 (GRCm39)	E145G	probably damaging	Het
Ccdc177	A	G	12: 80,804,582 (GRCm39)	L564P	unknown	Het
Cdk12	C	T	11: 98,141,133 (GRCm39)	P1458L	unknown	Het
Chek1	A	G	9: 36,625,140 (GRCm39)	F314L	probably benign	Het
Cnot3	T	C	7: 3,656,522 (GRCm39)	V239A	probably benign	Het
Cplane1	T	C	15: 8,258,492 (GRCm39)	M2246T	probably benign	Het
Crhr2	A	G	6: 55,079,779 (GRCm39)	F187S	possibly damaging	Het
Dchs2	T	A	3: 83,192,631 (GRCm39)	V1692D	probably damaging	Het
Dctd	T	A	8: 48,565,046 (GRCm39)	I57N	probably damaging	Het
Dennd5b	A	T	6: 148,911,272 (GRCm39)	L977*	probably null	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dysf	T	C	6: 84,088,952 (GRCm39)	S865P	probably damaging	Het
Eif2ak3	A	T	6: 70,858,535 (GRCm39)	I275F	possibly damaging	Het
Eif2ak4	T	A	2: 118,262,718 (GRCm39)	I757N	probably damaging	Het
Exog	A	G	9: 119,276,108 (GRCm39)	Q110R	possibly damaging	Het
Fbxl4	T	C	4: 22,403,704 (GRCm39)	C426R	probably benign	Het
Fndc11	A	C	2: 180,863,864 (GRCm39)	H223P	probably damaging	Het
Frmd3	T	A	4: 74,080,286 (GRCm39)	S334R	probably damaging	Het
Galnt14	A	T	17: 73,833,257 (GRCm39)	I239N	probably damaging	Het
Gm5930	C	T	14: 44,576,015 (GRCm39)	M1I	probably null	Het
Igkv4-63	A	G	6: 69,355,051 (GRCm39)	S77P	probably benign	Het
Igkv5-48	G	A	6: 69,703,779 (GRCm39)	S42F	probably damaging	Het
Kalrn	T	A	16: 33,854,884 (GRCm39)	Y1992F	probably damaging	Het
Kmt2a	T	C	9: 44,721,981 (GRCm39)	Y3788C	unknown	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lpo	T	C	11: 87,700,066 (GRCm39)	N525S	probably benign	Het
Med1	T	C	11: 98,046,599 (GRCm39)	H1399R	unknown	Het
Mga	T	A	2: 119,794,407 (GRCm39)	V2697E	possibly damaging	Het
Msto1	T	C	3: 88,819,184 (GRCm39)	T188A	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Or10d1	G	T	9: 39,483,800 (GRCm39)	P252T	probably damaging	Het
Pbld1	A	T	10: 62,910,890 (GRCm39)	K248*	probably null	Het
Pcdhb12	G	A	18: 37,570,474 (GRCm39)	R540H	probably benign	Het
Pcx	G	T	19: 4,652,039 (GRCm39)	A96S	probably damaging	Het
Plcb1	A	G	2: 135,094,696 (GRCm39)	I174V	probably benign	Het
Psme3	T	C	11: 101,211,422 (GRCm39)	I193T	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rph3a	A	T	5: 121,100,501 (GRCm39)	H132Q	probably damaging	Het
Scrib	C	A	15: 75,936,354 (GRCm39)	D501Y	probably damaging	Het
Sdad1	C	A	5: 92,452,857 (GRCm39)	R127L	probably benign	Het
Setdb1	T	C	3: 95,249,041 (GRCm39)	T356A	probably damaging	Het
Sh3bgrl3	T	C	4: 133,855,116 (GRCm39)	D73G	probably benign	Het
Sipa1l1	G	T	12: 82,216,517 (GRCm39)		probably benign	Het
Slc17a8	G	A	10: 89,428,758 (GRCm39)	A261V	probably benign	Het
Sox6	T	A	7: 115,261,632 (GRCm39)	I195F	probably damaging	Het
Syne1	T	C	10: 5,090,928 (GRCm39)	K809E	possibly damaging	Het
Tmem30c	G	A	16: 57,086,855 (GRCm39)	T316M	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,451 (GRCm39)	T357A	probably benign	Het
Top2a	T	A	11: 98,900,868 (GRCm39)	T574S	probably damaging	Het
Trappc3l	G	A	10: 33,974,917 (GRCm39)	C133Y	probably damaging	Het
Unk	C	T	11: 115,938,640 (GRCm39)	T81I	probably damaging	Het
Vamp1	G	A	6: 125,217,388 (GRCm39)	R144K	unknown	Het
Wnt9b	T	C	11: 103,624,487 (GRCm39)	N101S	probably damaging	Het
Wwtr1	T	A	3: 57,369,945 (GRCm39)	D390V	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
R4564:Cndp1	UTSW	18	84,640,411 (GRCm39)	missense	probably damaging	1.00
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
R9688:Cndp1	UTSW	18	84,655,982 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAGCAGACTTATCAGTTCATG -3'
(R):5'- AGAGCCCCAAGTCATGTGAC -3'

Sequencing Primer
(F):5'- TAACACACAGCGCGGGC -3'
(R):5'- CATAGGATGTGAGGTCAGGTC -3'

Posted On

2021-04-30