Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02675:Cpn1'

303102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpn1

Ensembl Gene

ENSMUSG00000025196

Gene Name

carboxypeptidase N, polypeptide 1

Synonyms

CPN, 0610011F20Rik, 50 kDa

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02675

Quality Score

Status

Chromosome

Chromosomal Location

43944746-43974990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43969369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 98 (Q98R)

Ref Sequence

ENSEMBL: ENSMUSP00000026210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026210]

AlphaFold

Q9JJN5

Predicted Effect

probably benign
Transcript: ENSMUST00000026210
AA Change: Q98R

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026210
Gene: ENSMUSG00000025196
AA Change: Q98R

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Zn_pept	25	428	5.39e-41	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly susceptible to lethal anaphylactic shock caused by acute complement activation when administered cobra venom factor or C5a complement. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano8	A	G	8: 71,936,184 (GRCm39)	I204T	probably damaging	Het
Anxa8	A	G	14: 33,815,371 (GRCm39)	D150G	probably damaging	Het
Arel1	T	C	12: 84,977,002 (GRCm39)	T438A	probably damaging	Het
Asphd1	T	C	7: 126,546,006 (GRCm39)		probably benign	Het
Bcl2l12	A	T	7: 44,640,824 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,055,602 (GRCm39)	I87T	probably damaging	Het
Ccdc80	A	C	16: 44,936,695 (GRCm39)	T707P	probably damaging	Het
Ccn6	A	G	10: 39,027,236 (GRCm39)	V332A	possibly damaging	Het
Cdh9	T	A	15: 16,849,162 (GRCm39)		probably null	Het
Chrd	T	C	16: 20,558,699 (GRCm39)		probably benign	Het
D630045J12Rik	A	G	6: 38,172,420 (GRCm39)	S583P	possibly damaging	Het
Dnah7a	A	G	1: 53,543,183 (GRCm39)	I2329T	possibly damaging	Het
Egln3	A	G	12: 54,249,996 (GRCm39)	S118P	probably benign	Het
Gfra1	G	A	19: 58,441,787 (GRCm39)	T48I	probably damaging	Het
Hapln3	C	T	7: 78,767,596 (GRCm39)		probably null	Het
Heatr3	T	C	8: 88,871,185 (GRCm39)	F180L	possibly damaging	Het
Herc2	T	A	7: 55,813,849 (GRCm39)	S2661T	probably damaging	Het
Hook3	A	T	8: 26,551,462 (GRCm39)	L126Q	possibly damaging	Het
Hoxd8	T	G	2: 74,536,930 (GRCm39)	L214R	probably damaging	Het
Ifna1	T	G	4: 88,768,670 (GRCm39)	L116R	probably damaging	Het
Il31ra	T	A	13: 112,660,886 (GRCm39)	T487S	probably benign	Het
Kifc2	C	T	15: 76,547,179 (GRCm39)	R252W	probably damaging	Het
Meox2	A	G	12: 37,228,333 (GRCm39)	D290G	probably damaging	Het
Micu2	A	G	14: 58,182,834 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,673,130 (GRCm39)	T406A	possibly damaging	Het
Naip1	T	A	13: 100,545,626 (GRCm39)	M1301L	probably benign	Het
Pbrm1	T	C	14: 30,828,244 (GRCm39)	L1341P	possibly damaging	Het
Pcna-ps2	C	A	19: 9,261,323 (GRCm39)	A194E	probably benign	Het
Pdcd10	G	A	3: 75,434,901 (GRCm39)	T130I	probably damaging	Het
Pprc1	G	A	19: 46,051,946 (GRCm39)	G491D	probably damaging	Het
Prss57	A	G	10: 79,623,309 (GRCm39)	V46A	probably benign	Het
Ptcd3	A	G	6: 71,860,426 (GRCm39)		probably null	Het
Riok1	C	T	13: 38,234,219 (GRCm39)	P262S	probably damaging	Het
Rnf13	A	G	3: 57,686,817 (GRCm39)	N70S	probably benign	Het
Skint7	T	A	4: 111,839,178 (GRCm39)	D157E	probably benign	Het
Sri	T	C	5: 8,117,534 (GRCm39)	F191S	probably damaging	Het
Stat5b	T	C	11: 100,678,200 (GRCm39)	R638G	probably benign	Het
Suds3	C	T	5: 117,232,970 (GRCm39)		probably null	Het
Tmem19	A	G	10: 115,178,478 (GRCm39)	L281P	probably damaging	Het
Tmf1	A	G	6: 97,141,003 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,768,125 (GRCm39)		probably benign	Het
Usp28	T	C	9: 48,950,391 (GRCm39)	I940T	possibly damaging	Het
Zfp280d	T	A	9: 72,219,504 (GRCm39)	I227K	probably benign	Het
Zfp335	A	G	2: 164,752,609 (GRCm39)	V45A	probably benign	Het

Other mutations in Cpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Cpn1	APN	19	43,952,268 (GRCm39)	missense	probably damaging	0.99
IGL01652:Cpn1	APN	19	43,974,533 (GRCm39)	missense	possibly damaging	0.80
IGL01781:Cpn1	APN	19	43,954,657 (GRCm39)	missense	possibly damaging	0.93
IGL02819:Cpn1	APN	19	43,956,907 (GRCm39)	missense	probably damaging	1.00
IGL03135:Cpn1	APN	19	43,974,693 (GRCm39)	missense	possibly damaging	0.96
Beloved	UTSW	19	43,952,208 (GRCm39)	missense	probably damaging	1.00
Granddaughter	UTSW	19	43,974,675 (GRCm39)	missense	possibly damaging	0.84
R1946:Cpn1	UTSW	19	43,944,957 (GRCm39)	missense	probably benign
R3845:Cpn1	UTSW	19	43,962,523 (GRCm39)	missense	possibly damaging	0.82
R4133:Cpn1	UTSW	19	43,974,723 (GRCm39)	missense	possibly damaging	0.93
R5114:Cpn1	UTSW	19	43,974,634 (GRCm39)	missense	probably damaging	0.98
R5874:Cpn1	UTSW	19	43,944,951 (GRCm39)	missense	probably benign
R5922:Cpn1	UTSW	19	43,974,532 (GRCm39)	missense	probably damaging	1.00
R6643:Cpn1	UTSW	19	43,948,472 (GRCm39)	missense	probably benign	0.16
R6781:Cpn1	UTSW	19	43,969,343 (GRCm39)	missense	possibly damaging	0.51
R7171:Cpn1	UTSW	19	43,962,470 (GRCm39)	missense	probably damaging	0.99
R7843:Cpn1	UTSW	19	43,974,597 (GRCm39)	missense	probably benign	0.01
R8770:Cpn1	UTSW	19	43,952,208 (GRCm39)	missense	probably damaging	1.00
R8798:Cpn1	UTSW	19	43,974,675 (GRCm39)	missense	possibly damaging	0.84
R8884:Cpn1	UTSW	19	43,954,615 (GRCm39)	missense	possibly damaging	0.80
R9265:Cpn1	UTSW	19	43,958,599 (GRCm39)	missense	probably damaging	0.97
Z1177:Cpn1	UTSW	19	43,962,415 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16