Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Cpn2'

294506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpn2

Ensembl Gene

ENSMUSG00000023176

Gene Name

carboxypeptidase N, polypeptide 2

Synonyms

1300018K11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

30075196-30086317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30079653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 16 (A16V)

Ref Sequence

ENSEMBL: ENSMUSP00000069318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064856]

AlphaFold

Q9DBB9

Predicted Effect

probably benign
Transcript: ENSMUST00000064856
AA Change: A16V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: A16V

Domain	Start	End	E-Value	Type
LRRNT	21	53	3.21e-8	SMART
LRR	96	119	1.22e2	SMART
LRR	120	143	5.11e0	SMART
LRR_TYP	144	167	2.71e-2	SMART
LRR_TYP	168	191	3.21e-4	SMART
LRR_TYP	192	215	5.9e-3	SMART
LRR_TYP	216	239	6.88e-4	SMART
LRR	240	263	6.57e-1	SMART
LRR_TYP	264	287	2.12e-4	SMART
LRR	289	311	3.07e-1	SMART
LRR_TYP	312	335	2.61e-4	SMART
LRR_TYP	336	359	5.9e-3	SMART
LRR_TYP	360	383	2.79e-4	SMART
LRRCT	395	446	7.34e-9	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Avil	A	G	10: 126,852,222 (GRCm39)	K669R	probably benign	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Donson	A	T	16: 91,478,064 (GRCm39)	W461R	probably damaging	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,467,443 (GRCm39)	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Rsbn1l	T	C	5: 21,156,734 (GRCm39)	E17G	probably damaging	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,356,667 (GRCm39)		probably benign	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tmx2	A	T	2: 84,503,588 (GRCm39)		probably benign	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	probably damaging	Het

Other mutations in Cpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Cpn2	APN	16	30,079,338 (GRCm39)	missense	probably benign	0.42
IGL01954:Cpn2	APN	16	30,079,138 (GRCm39)	missense	probably benign	0.01
IGL03036:Cpn2	APN	16	30,079,647 (GRCm39)	missense	probably benign	0.00
BB002:Cpn2	UTSW	16	30,079,619 (GRCm39)	missense	probably damaging	1.00
BB012:Cpn2	UTSW	16	30,079,619 (GRCm39)	missense	probably damaging	1.00
R0118:Cpn2	UTSW	16	30,079,186 (GRCm39)	missense	probably benign	0.04
R0541:Cpn2	UTSW	16	30,078,169 (GRCm39)	missense	possibly damaging	0.73
R1300:Cpn2	UTSW	16	30,078,481 (GRCm39)	missense	probably benign	0.01
R1470:Cpn2	UTSW	16	30,079,003 (GRCm39)	missense	probably benign	0.00
R1470:Cpn2	UTSW	16	30,079,003 (GRCm39)	missense	probably benign	0.00
R1751:Cpn2	UTSW	16	30,078,485 (GRCm39)	nonsense	probably null
R1753:Cpn2	UTSW	16	30,078,918 (GRCm39)	missense	probably damaging	1.00
R1761:Cpn2	UTSW	16	30,079,014 (GRCm39)	missense	probably damaging	1.00
R1767:Cpn2	UTSW	16	30,078,485 (GRCm39)	nonsense	probably null
R1793:Cpn2	UTSW	16	30,078,142 (GRCm39)	missense	probably damaging	1.00
R2360:Cpn2	UTSW	16	30,078,321 (GRCm39)	missense	probably benign	0.01
R2414:Cpn2	UTSW	16	30,079,392 (GRCm39)	missense	probably benign	0.41
R3842:Cpn2	UTSW	16	30,079,336 (GRCm39)	missense	probably damaging	1.00
R4934:Cpn2	UTSW	16	30,079,344 (GRCm39)	missense	probably damaging	1.00
R4956:Cpn2	UTSW	16	30,079,233 (GRCm39)	missense	possibly damaging	0.56
R5593:Cpn2	UTSW	16	30,078,898 (GRCm39)	missense	probably benign	0.02
R5864:Cpn2	UTSW	16	30,078,501 (GRCm39)	missense	probably damaging	1.00
R6755:Cpn2	UTSW	16	30,079,149 (GRCm39)	missense	probably damaging	1.00
R7833:Cpn2	UTSW	16	30,079,163 (GRCm39)	missense	probably damaging	1.00
R7925:Cpn2	UTSW	16	30,079,619 (GRCm39)	missense	probably damaging	1.00
R8441:Cpn2	UTSW	16	30,078,849 (GRCm39)	missense	probably damaging	1.00
R8679:Cpn2	UTSW	16	30,078,085 (GRCm39)	missense	possibly damaging	0.90
R8844:Cpn2	UTSW	16	30,078,115 (GRCm39)	missense	probably damaging	1.00
R9406:Cpn2	UTSW	16	30,078,360 (GRCm39)	missense	probably benign	0.02
R9523:Cpn2	UTSW	16	30,078,759 (GRCm39)	missense	possibly damaging	0.89
RF021:Cpn2	UTSW	16	30,078,156 (GRCm39)	missense	probably benign

Posted On

2015-04-16