Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03150:Corin'

411079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Corin

Ensembl Gene

ENSMUSG00000005220

Gene Name

corin

Synonyms

Lrp4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

IGL03150

Quality Score

Status

Chromosome

Chromosomal Location

72300025-72504473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72302858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 886 (D886G)

Ref Sequence

ENSEMBL: ENSMUSP00000135889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005352] [ENSMUST00000094710] [ENSMUST00000126664] [ENSMUST00000167460] [ENSMUST00000175766] [ENSMUST00000176974] [ENSMUST00000177290]

AlphaFold

Q9Z319

Predicted Effect

probably damaging
Transcript: ENSMUST00000005352
AA Change: D1027G

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

SMART Domains

Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: D1027G

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
FRI	205	318	6.15e-11	SMART
LDLa	336	372	1.31e-8	SMART
LDLa	373	408	1.5e-8	SMART
LDLa	409	447	5.47e-11	SMART
LDLa	448	484	1.22e-8	SMART
low complexity region	508	521	N/A	INTRINSIC
FRI	522	643	2.75e-31	SMART
LDLa	647	684	2.19e-10	SMART
LDLa	685	722	1.76e-5	SMART
LDLa	723	759	4.18e-7	SMART
SR	758	853	3.99e-10	SMART
Tryp_SPc	868	1097	5.45e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094710

SMART Domains

Protein: ENSMUSP00000142749
Gene: ENSMUSG00000046808

Domain	Start	End	E-Value	Type
SCOP:d1eula_	5	180	9e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126664

SMART Domains

Protein: ENSMUSP00000143594
Gene: ENSMUSG00000046808

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:PhoLip_ATPase_N	111	176	1.2e-21	PFAM
Pfam:E1-E2_ATPase	181	450	3e-10	PFAM
low complexity region	523	534	N/A	INTRINSIC
low complexity region	684	696	N/A	INTRINSIC
Pfam:Cation_ATPase	739	859	3.4e-7	PFAM
Pfam:HAD	754	1114	1.3e-12	PFAM
Pfam:PhoLip_ATPase_C	1131	1376	4.3e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158570

Predicted Effect

probably damaging
Transcript: ENSMUST00000167460
AA Change: D961G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: D961G

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
FRI	139	252	6.15e-11	SMART
LDLa	270	306	1.31e-8	SMART
LDLa	307	342	1.5e-8	SMART
LDLa	343	381	5.47e-11	SMART
LDLa	382	418	1.22e-8	SMART
low complexity region	442	455	N/A	INTRINSIC
FRI	456	577	2.75e-31	SMART
LDLa	581	618	2.19e-10	SMART
LDLa	619	656	1.76e-5	SMART
LDLa	657	693	4.18e-7	SMART
SR	692	787	3.99e-10	SMART
Tryp_SPc	802	1031	5.45e-76	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000175766
AA Change: D886G

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

SMART Domains

Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: D886G

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
FRI	137	250	6.15e-11	SMART
LDLa	268	304	1.31e-8	SMART
LDLa	305	343	2.07e-11	SMART
low complexity region	367	380	N/A	INTRINSIC
FRI	381	502	2.75e-31	SMART
LDLa	506	543	2.19e-10	SMART
LDLa	544	581	1.76e-5	SMART
LDLa	582	618	4.18e-7	SMART
SR	617	712	3.99e-10	SMART
Tryp_SPc	727	956	5.45e-76	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176974
AA Change: D924G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: D924G

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
FRI	139	252	6.15e-11	SMART
LDLa	270	306	1.31e-8	SMART
LDLa	307	344	3.86e-11	SMART
LDLa	345	381	1.22e-8	SMART
low complexity region	405	418	N/A	INTRINSIC
FRI	419	540	2.75e-31	SMART
LDLa	544	581	2.19e-10	SMART
LDLa	582	619	1.76e-5	SMART
LDLa	620	656	4.18e-7	SMART
SR	655	750	3.99e-10	SMART
Tryp_SPc	765	994	5.45e-76	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177290
AA Change: D894G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: D894G

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
FRI	72	185	6.15e-11	SMART
LDLa	203	239	1.31e-8	SMART
LDLa	240	275	1.5e-8	SMART
LDLa	276	314	5.47e-11	SMART
LDLa	315	351	1.22e-8	SMART
low complexity region	375	388	N/A	INTRINSIC
FRI	389	510	2.75e-31	SMART
LDLa	514	551	2.19e-10	SMART
LDLa	552	589	1.76e-5	SMART
LDLa	590	626	4.18e-7	SMART
SR	625	720	3.99e-10	SMART
Tryp_SPc	735	964	5.45e-76	SMART

Coding Region Coverage

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 type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice display hypertension that is enhanced by high-salt diet and pregnancy, increased body weight, and cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,948,066 (GRCm38)	S1387P	probably damaging	Het
Aadat	C	T	8: 60,543,562 (GRCm38)	S399L	probably damaging	Het
C530008M17Rik	G	A	5: 76,867,250 (GRCm38)	E57K	probably damaging	Het
Ccdc36	G	T	9: 108,404,956 (GRCm38)	T511K	probably damaging	Het
Eif2ak3	A	T	6: 70,892,436 (GRCm38)	K702N	possibly damaging	Het
Ercc6	G	T	14: 32,558,574 (GRCm38)	M709I	probably damaging	Het
Foxa1	T	A	12: 57,542,296 (GRCm38)	E379D	probably benign	Het
Fscb	C	T	12: 64,472,430 (GRCm38)	G754D	unknown	Het
Gzmb	C	T	14: 56,260,382 (GRCm38)	V134I	probably benign	Het
Muc5b	A	G	7: 141,865,509 (GRCm38)	T4010A	possibly damaging	Het
Necab3	A	G	2: 154,554,742 (GRCm38)	Y55H	probably damaging	Het
Nova1	T	C	12: 46,700,672 (GRCm38)	N274S	possibly damaging	Het
Nup54	C	A	5: 92,428,164 (GRCm38)	G156V	probably damaging	Het
Obscn	A	T	11: 59,051,723 (GRCm38)	C4317S	probably damaging	Het
Papln	T	A	12: 83,782,984 (GRCm38)	W960R	probably damaging	Het
Pax4	C	A	6: 28,444,339 (GRCm38)	G239W	probably null	Het
Pcdhb15	C	A	18: 37,475,014 (GRCm38)	T433N	probably damaging	Het
Ptprj	A	G	2: 90,460,611 (GRCm38)	S502P	probably damaging	Het
Slit3	A	G	11: 35,508,257 (GRCm38)	R150G	possibly damaging	Het
Srgap2	A	T	1: 131,310,600 (GRCm38)	V658E	probably damaging	Het
Taar7e	A	T	10: 24,037,630 (GRCm38)	D6V	probably benign	Het
Trim25	T	C	11: 89,000,005 (GRCm38)	C173R	probably damaging	Het
Trmt1l	T	C	1: 151,453,892 (GRCm38)	S529P	probably benign	Het
Ubn2	C	T	6: 38,463,714 (GRCm38)	P174S	probably benign	Het
Ubox5	A	G	2: 130,600,140 (GRCm38)	V209A	probably benign	Het
Vmn2r72	A	G	7: 85,751,176 (GRCm38)	F222L	probably damaging	Het
Xpot	C	T	10: 121,609,186 (GRCm38)	A374T	probably benign	Het
Zfp451	A	G	1: 33,777,454 (GRCm38)	C472R	probably damaging	Het
Zfp777	A	G	6: 48,044,125 (GRCm38)	W232R	probably damaging	Het

Other mutations in Corin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Corin	APN	5	72,304,888 (GRCm38)	missense	probably damaging	1.00
IGL01114:Corin	APN	5	72,305,011 (GRCm38)	missense	probably damaging	1.00
IGL01351:Corin	APN	5	72,338,991 (GRCm38)	missense	probably damaging	1.00
IGL01516:Corin	APN	5	72,454,487 (GRCm38)	nonsense	probably null
IGL01785:Corin	APN	5	72,339,876 (GRCm38)	missense	probably damaging	1.00
IGL01786:Corin	APN	5	72,339,876 (GRCm38)	missense	probably damaging	1.00
IGL01845:Corin	APN	5	72,353,939 (GRCm38)	missense	probably damaging	1.00
IGL02097:Corin	APN	5	72,372,146 (GRCm38)	missense	probably damaging	1.00
IGL02629:Corin	APN	5	72,332,673 (GRCm38)	missense	probably damaging	1.00
IGL03085:Corin	APN	5	72,353,930 (GRCm38)	missense	probably damaging	1.00
IGL03120:Corin	APN	5	72,360,689 (GRCm38)	missense	probably damaging	1.00
IGL03183:Corin	APN	5	72,301,586 (GRCm38)	missense	probably damaging	0.99
IGL03185:Corin	APN	5	72,332,781 (GRCm38)	missense	probably damaging	1.00
IGL03408:Corin	APN	5	72,342,961 (GRCm38)	missense	probably benign	0.40
alpaca	UTSW	5	72,503,952 (GRCm38)	missense	possibly damaging	0.85
R0078:Corin	UTSW	5	72,454,473 (GRCm38)	missense	possibly damaging	0.77
R0724:Corin	UTSW	5	72,332,795 (GRCm38)	splice site	probably benign
R1065:Corin	UTSW	5	72,301,650 (GRCm38)	nonsense	probably null
R1301:Corin	UTSW	5	72,304,933 (GRCm38)	missense	possibly damaging	0.81
R1466:Corin	UTSW	5	72,302,790 (GRCm38)	critical splice donor site	probably null
R1466:Corin	UTSW	5	72,302,790 (GRCm38)	critical splice donor site	probably null
R1520:Corin	UTSW	5	72,330,895 (GRCm38)	missense	probably damaging	1.00
R1584:Corin	UTSW	5	72,302,790 (GRCm38)	critical splice donor site	probably null
R1617:Corin	UTSW	5	72,503,952 (GRCm38)	missense	possibly damaging	0.85
R1912:Corin	UTSW	5	72,358,403 (GRCm38)	missense	probably damaging	1.00
R2059:Corin	UTSW	5	72,316,051 (GRCm38)	missense	possibly damaging	0.76
R2173:Corin	UTSW	5	72,504,079 (GRCm38)	missense	probably benign	0.01
R2242:Corin	UTSW	5	72,332,711 (GRCm38)	missense	probably damaging	1.00
R2373:Corin	UTSW	5	72,339,038 (GRCm38)	missense	probably damaging	1.00
R2850:Corin	UTSW	5	72,304,955 (GRCm38)	missense	probably damaging	1.00
R3683:Corin	UTSW	5	72,330,855 (GRCm38)	missense	probably damaging	1.00
R3684:Corin	UTSW	5	72,330,855 (GRCm38)	missense	probably damaging	1.00
R3790:Corin	UTSW	5	72,435,298 (GRCm38)	missense	probably benign	0.38
R3847:Corin	UTSW	5	72,422,165 (GRCm38)	missense	probably benign	0.13
R3926:Corin	UTSW	5	72,372,130 (GRCm38)	missense	probably damaging	1.00
R3939:Corin	UTSW	5	72,339,879 (GRCm38)	missense	possibly damaging	0.80
R3945:Corin	UTSW	5	72,358,424 (GRCm38)	missense	probably damaging	1.00
R4079:Corin	UTSW	5	72,503,883 (GRCm38)	missense	probably benign	0.03
R4224:Corin	UTSW	5	72,343,108 (GRCm38)	missense	probably damaging	1.00
R4473:Corin	UTSW	5	72,339,057 (GRCm38)	missense	probably damaging	1.00
R4585:Corin	UTSW	5	72,329,699 (GRCm38)	missense	probably damaging	1.00
R4586:Corin	UTSW	5	72,329,699 (GRCm38)	missense	probably damaging	1.00
R4849:Corin	UTSW	5	72,302,835 (GRCm38)	missense	probably damaging	1.00
R4926:Corin	UTSW	5	72,372,182 (GRCm38)	missense	probably damaging	1.00
R5080:Corin	UTSW	5	72,353,851 (GRCm38)	intron	probably benign
R5138:Corin	UTSW	5	72,339,059 (GRCm38)	missense	probably damaging	1.00
R5262:Corin	UTSW	5	72,304,955 (GRCm38)	missense	probably damaging	1.00
R5268:Corin	UTSW	5	72,343,019 (GRCm38)	missense	probably damaging	1.00
R5302:Corin	UTSW	5	72,316,098 (GRCm38)	missense	probably benign	0.07
R5307:Corin	UTSW	5	72,356,978 (GRCm38)	missense	probably damaging	1.00
R5324:Corin	UTSW	5	72,435,257 (GRCm38)	missense	probably damaging	1.00
R5352:Corin	UTSW	5	72,305,033 (GRCm38)	missense	probably benign	0.04
R5373:Corin	UTSW	5	72,304,953 (GRCm38)	missense	probably damaging	1.00
R5374:Corin	UTSW	5	72,304,953 (GRCm38)	missense	probably damaging	1.00
R5484:Corin	UTSW	5	72,358,484 (GRCm38)	missense	probably benign	0.15
R5502:Corin	UTSW	5	72,316,106 (GRCm38)	nonsense	probably null
R5544:Corin	UTSW	5	72,305,014 (GRCm38)	nonsense	probably null
R5682:Corin	UTSW	5	72,422,154 (GRCm38)	missense	possibly damaging	0.85
R5818:Corin	UTSW	5	72,435,395 (GRCm38)	missense	probably benign	0.00
R5992:Corin	UTSW	5	72,316,389 (GRCm38)	missense	probably benign	0.01
R6115:Corin	UTSW	5	72,360,729 (GRCm38)	missense	probably damaging	1.00
R6181:Corin	UTSW	5	72,372,096 (GRCm38)	critical splice donor site	probably null
R6317:Corin	UTSW	5	72,339,045 (GRCm38)	missense	probably damaging	1.00
R7053:Corin	UTSW	5	72,301,527 (GRCm38)	missense	probably benign	0.28
R7242:Corin	UTSW	5	72,305,055 (GRCm38)	missense	probably benign	0.14
R7452:Corin	UTSW	5	72,435,247 (GRCm38)	missense	possibly damaging	0.94
R7783:Corin	UTSW	5	72,301,624 (GRCm38)	missense	probably benign	0.26
R7903:Corin	UTSW	5	72,301,500 (GRCm38)	missense	probably benign	0.00
R7956:Corin	UTSW	5	72,422,187 (GRCm38)	missense	probably damaging	0.99
R8007:Corin	UTSW	5	72,316,103 (GRCm38)	missense	probably damaging	0.96
R8125:Corin	UTSW	5	72,358,463 (GRCm38)	missense	probably damaging	0.96
R8215:Corin	UTSW	5	72,305,018 (GRCm38)	missense	probably damaging	1.00
R8251:Corin	UTSW	5	72,356,926 (GRCm38)	missense	probably damaging	1.00
R8364:Corin	UTSW	5	72,304,931 (GRCm38)	missense	probably benign
R8505:Corin	UTSW	5	72,435,407 (GRCm38)	missense	probably benign	0.21
R8746:Corin	UTSW	5	72,435,352 (GRCm38)	missense	probably benign	0.31
R8887:Corin	UTSW	5	72,329,610 (GRCm38)	critical splice donor site	probably null
R9484:Corin	UTSW	5	72,339,937 (GRCm38)	missense	probably damaging	1.00
R9640:Corin	UTSW	5	72,435,254 (GRCm38)	missense	probably benign
Z1177:Corin	UTSW	5	72,454,493 (GRCm38)	missense	probably benign	0.00

Posted On

2016-08-02