Mutagenetix > Incidental Mutation

Incidental Mutation 'R5326:Cndp2'

500942

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

042909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84667470-84685633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84672076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 247 (M247K)

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: M247K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: M247K

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: M247K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: M247K

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,354	T127A	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,489	I1847F	probably damaging	Het
Aadacl2	C	T	3: 60,025,063	T333I	probably damaging	Het
Actl6b	T	C	5: 137,567,051	S366P	probably damaging	Het
Actr10	T	C	12: 70,954,656		probably benign	Het
Adgrf5	T	A	17: 43,440,074	I510N	probably damaging	Het
Adra2a	A	G	19: 54,046,681	Y156C	probably damaging	Het
Angpt4	T	C	2: 151,925,544		probably null	Het
Ankdd1a	T	A	9: 65,504,190		probably null	Het
AW146154	C	A	7: 41,481,377	G105V	probably benign	Het
Brd3	A	G	2: 27,450,544	L551P	probably benign	Het
Calb2	C	T	8: 110,156,978	G38D	possibly damaging	Het
Cand1	G	A	10: 119,212,028	A519V	probably benign	Het
Cnbd1	T	C	4: 18,860,517	T410A	possibly damaging	Het
Cog6	T	A	3: 53,013,816	Q123L	probably null	Het
Crx	G	A	7: 15,868,337	R139C	probably damaging	Het
Ctrc	A	G	4: 141,843,726	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,621,245	D326G	probably damaging	Het
Depdc1a	T	C	3: 159,526,649	V679A	probably damaging	Het
Dyrk1a	A	G	16: 94,686,581	D512G	probably damaging	Het
Edem1	C	T	6: 108,854,329	R584C	possibly damaging	Het
Emcn	A	G	3: 137,379,877	T79A	probably benign	Het
Fbrsl1	C	T	5: 110,378,441	G437R	probably damaging	Het
Fbxo9	T	C	9: 78,101,656	M12V	possibly damaging	Het
Flii	A	G	11: 60,718,862	S640P	probably benign	Het
Frs2	T	C	10: 117,077,563	S121G	probably benign	Het
Fsip2	A	T	2: 82,981,863	N2842I	possibly damaging	Het
Fst	G	T	13: 114,455,705	Q159K	probably damaging	Het
Ggt1	T	C	10: 75,585,706		probably null	Het
Gigyf2	T	C	1: 87,425,138		probably benign	Het
Gm10439	T	G	X: 149,636,163	*434E	probably null	Het
Gm9476	T	A	10: 100,307,134		noncoding transcript	Het
Gm9992	A	T	17: 7,369,788	C334S	probably benign	Het
Gmcl1	A	T	6: 86,726,145	N102K	possibly damaging	Het
Gml	T	C	15: 74,816,450	N56S	probably damaging	Het
Gpam	A	C	19: 55,091,165	S128R	probably benign	Het
Gucy1b2	C	T	14: 62,453,330		probably null	Het
Hhipl2	A	G	1: 183,433,146	D377G	probably damaging	Het
Hmx3	C	T	7: 131,544,417	Q285*	probably null	Het
Hspa14	A	G	2: 3,502,523	V116A	possibly damaging	Het
Ighv5-17	T	C	12: 113,859,258	D81G	possibly damaging	Het
Ipo5	T	C	14: 120,926,271	V247A	probably benign	Het
Iqcd	A	G	5: 120,602,375	Q257R	probably damaging	Het
Itpk1	T	C	12: 102,573,966	N286S	possibly damaging	Het
Knl1	T	A	2: 119,068,348	C177S	possibly damaging	Het
Knop1	T	C	7: 118,853,272	K23E	possibly damaging	Het
Ksr2	T	A	5: 117,708,240	V724E	probably damaging	Het
Lrrc17	G	A	5: 21,575,158	G377S	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,350,991		probably null	Het
Morc2b	T	A	17: 33,136,933	T622S	probably benign	Het
Msantd2	G	A	9: 37,517,259	G185R	probably damaging	Het
Mtmr2	A	G	9: 13,788,647	Y38C	probably damaging	Het
Mycbpap	A	T	11: 94,507,746		probably null	Het
Nadsyn1	T	A	7: 143,808,830	R279W	probably benign	Het
Olfr1354	G	A	10: 78,917,586	V249I	possibly damaging	Het
Olfr330	A	C	11: 58,529,884	V34G	probably benign	Het
Olfr384	T	A	11: 73,603,204	V208E	possibly damaging	Het
Olfr689	T	A	7: 105,314,439	F145Y	probably damaging	Het
Pcdhga4	A	T	18: 37,686,598	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,486,649		silent	Het
Prkar1b	T	C	5: 139,127,789		probably null	Het
Ric8b	T	C	10: 84,992,212	Y467H	probably damaging	Het
Rin1	A	G	19: 5,052,624	E387G	probably damaging	Het
Robo2	G	A	16: 73,898,965	T1430I	probably benign	Het
Seh1l	C	T	18: 67,774,999		probably benign	Het
Slc37a1	A	T	17: 31,340,262	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,735,189	F233S	probably damaging	Het
Smyd3	A	T	1: 179,410,459	D114E	probably benign	Het
Snrnp70	GCGGTCCCGGTCCCGGTC	GCGGTCCCGGTC	7: 45,377,233		probably benign	Het
Speer4a	T	A	5: 26,036,738	N130I	probably damaging	Het
Spin1	A	G	13: 51,139,527	Y91C	probably damaging	Het
Tdrd7	T	C	4: 46,029,757	V1030A	probably benign	Het
Trim30c	T	A	7: 104,388,304	M152L	possibly damaging	Het
Tsga10	T	A	1: 37,761,517	D542V	probably damaging	Het
Vmn1r175	A	T	7: 23,809,106	I32N	possibly damaging	Het
Vmn1r81	A	T	7: 12,260,107	D191E	probably damaging	Het
Wdr11	T	C	7: 129,625,249	S812P	probably damaging	Het
Zbtb5	C	A	4: 44,995,052	V111F	probably damaging	Het
Zdbf2	T	G	1: 63,304,411	C650G	possibly damaging	Het
Zfp282	T	A	6: 47,905,327	N649K	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
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'- GCTCTAGACATGATGAGGAGGC -3'
(R):5'- TGGACTGGAGAACTGTCAGTC -3'

Sequencing Primer
(F):5'- CAGGATCCTTTAAATAGAAAATGCCC -3'
(R):5'- GGAGAACTGTCAGTCTTACAAGTGTC -3'

Posted On

2017-12-01