Mutagenetix > Incidental Mutation

Incidental Mutation 'R5324:Corin'

405011

Institutional Source

Beutler Lab

Gene Symbol

Corin

Ensembl Gene

ENSMUSG00000005220

Gene Name

corin, serine peptidase

Synonyms

Lrp4

MMRRC Submission

042907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72457368-72661816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72592600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 133 (C133R)

Ref Sequence

ENSEMBL: ENSMUSP00000135511 (fasta)

Gene Model

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

AlphaFold

Q9Z319

Predicted Effect

probably damaging
Transcript: ENSMUST00000005352
AA Change: C266R

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

SMART Domains

Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: C266R

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 damaging
Transcript: ENSMUST00000167460
AA Change: C200R

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

SMART Domains

Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: C200R

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

possibly damaging
Transcript: ENSMUST00000175766
AA Change: C198R

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: C198R

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: C200R

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

SMART Domains

Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: C200R

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: C133R

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

SMART Domains

Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: C133R

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

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.2%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,619,863 (GRCm39)	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,403,279 (GRCm39)	R277*	probably null	Het
Cbl	A	T	9: 44,065,551 (GRCm39)	S659T	probably damaging	Het
Col14a1	A	T	15: 55,201,841 (GRCm39)	H43L	unknown	Het
Cyp1a1	A	G	9: 57,609,652 (GRCm39)	N401S	probably benign	Het
Dip2a	T	C	10: 76,132,227 (GRCm39)	D508G	probably damaging	Het
Dnah2	T	A	11: 69,348,819 (GRCm39)	H2556L	probably benign	Het
Dock8	T	C	19: 25,140,458 (GRCm39)	F1333L	probably benign	Het
Epg5	A	G	18: 78,005,660 (GRCm39)	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,436,446 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hbp1	T	C	12: 31,978,617 (GRCm39)	N510S	probably damaging	Het
Lrguk	T	C	6: 34,050,732 (GRCm39)	S397P	possibly damaging	Het
Mmrn1	A	T	6: 60,953,570 (GRCm39)	D617V	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
N6amt1	A	G	16: 87,151,241 (GRCm39)	D34G	probably damaging	Het
Nktr	A	T	9: 121,556,412 (GRCm39)	D30V	probably damaging	Het
Or52ab7	T	A	7: 102,978,257 (GRCm39)	M188K	probably damaging	Het
Or5w8	A	T	2: 87,688,040 (GRCm39)	I174F	probably damaging	Het
Or6c212	T	A	10: 129,558,814 (GRCm39)	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,869 (GRCm39)	F314L	probably damaging	Het
Papln	G	A	12: 83,821,345 (GRCm39)	V226M	probably damaging	Het
Parp12	A	T	6: 39,079,546 (GRCm39)	D321E	probably damaging	Het
Plch2	T	A	4: 155,068,991 (GRCm39)	T1107S	probably benign	Het
Psma2	T	C	13: 14,799,802 (GRCm39)	L182P	probably damaging	Het
Rcl1	A	G	19: 29,105,401 (GRCm39)	Y196C	probably benign	Het
Rdh16	G	A	10: 127,637,136 (GRCm39)	V24M	probably damaging	Het
Rpe65	A	G	3: 159,310,041 (GRCm39)	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,547,601 (GRCm39)	I371T	probably damaging	Het
Tet2	T	C	3: 133,191,674 (GRCm39)	N920S	probably benign	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmprss11f	T	A	5: 86,704,837 (GRCm39)	D27V	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,079 (GRCm39)		probably benign	Het
Zxdc	T	A	6: 90,350,782 (GRCm39)	I411N	probably damaging	Het

Other mutations in Corin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Corin	APN	5	72,462,231 (GRCm39)	missense	probably damaging	1.00
IGL01114:Corin	APN	5	72,462,354 (GRCm39)	missense	probably damaging	1.00
IGL01351:Corin	APN	5	72,496,334 (GRCm39)	missense	probably damaging	1.00
IGL01516:Corin	APN	5	72,611,830 (GRCm39)	nonsense	probably null
IGL01785:Corin	APN	5	72,497,219 (GRCm39)	missense	probably damaging	1.00
IGL01786:Corin	APN	5	72,497,219 (GRCm39)	missense	probably damaging	1.00
IGL01845:Corin	APN	5	72,511,282 (GRCm39)	missense	probably damaging	1.00
IGL02097:Corin	APN	5	72,529,489 (GRCm39)	missense	probably damaging	1.00
IGL02629:Corin	APN	5	72,490,016 (GRCm39)	missense	probably damaging	1.00
IGL03085:Corin	APN	5	72,511,273 (GRCm39)	missense	probably damaging	1.00
IGL03120:Corin	APN	5	72,518,032 (GRCm39)	missense	probably damaging	1.00
IGL03150:Corin	APN	5	72,460,201 (GRCm39)	missense	probably damaging	1.00
IGL03183:Corin	APN	5	72,458,929 (GRCm39)	missense	probably damaging	0.99
IGL03185:Corin	APN	5	72,490,124 (GRCm39)	missense	probably damaging	1.00
IGL03408:Corin	APN	5	72,500,304 (GRCm39)	missense	probably benign	0.40
alpaca	UTSW	5	72,661,295 (GRCm39)	missense	possibly damaging	0.85
R0078:Corin	UTSW	5	72,611,816 (GRCm39)	missense	possibly damaging	0.77
R0724:Corin	UTSW	5	72,490,138 (GRCm39)	splice site	probably benign
R1065:Corin	UTSW	5	72,458,993 (GRCm39)	nonsense	probably null
R1301:Corin	UTSW	5	72,462,276 (GRCm39)	missense	possibly damaging	0.81
R1466:Corin	UTSW	5	72,460,133 (GRCm39)	critical splice donor site	probably null
R1466:Corin	UTSW	5	72,460,133 (GRCm39)	critical splice donor site	probably null
R1520:Corin	UTSW	5	72,488,238 (GRCm39)	missense	probably damaging	1.00
R1584:Corin	UTSW	5	72,460,133 (GRCm39)	critical splice donor site	probably null
R1617:Corin	UTSW	5	72,661,295 (GRCm39)	missense	possibly damaging	0.85
R1912:Corin	UTSW	5	72,515,746 (GRCm39)	missense	probably damaging	1.00
R2059:Corin	UTSW	5	72,473,394 (GRCm39)	missense	possibly damaging	0.76
R2173:Corin	UTSW	5	72,661,422 (GRCm39)	missense	probably benign	0.01
R2242:Corin	UTSW	5	72,490,054 (GRCm39)	missense	probably damaging	1.00
R2373:Corin	UTSW	5	72,496,381 (GRCm39)	missense	probably damaging	1.00
R2850:Corin	UTSW	5	72,462,298 (GRCm39)	missense	probably damaging	1.00
R3683:Corin	UTSW	5	72,488,198 (GRCm39)	missense	probably damaging	1.00
R3684:Corin	UTSW	5	72,488,198 (GRCm39)	missense	probably damaging	1.00
R3790:Corin	UTSW	5	72,592,641 (GRCm39)	missense	probably benign	0.38
R3847:Corin	UTSW	5	72,579,508 (GRCm39)	missense	probably benign	0.13
R3926:Corin	UTSW	5	72,529,473 (GRCm39)	missense	probably damaging	1.00
R3939:Corin	UTSW	5	72,497,222 (GRCm39)	missense	possibly damaging	0.80
R3945:Corin	UTSW	5	72,515,767 (GRCm39)	missense	probably damaging	1.00
R4079:Corin	UTSW	5	72,661,226 (GRCm39)	missense	probably benign	0.03
R4224:Corin	UTSW	5	72,500,451 (GRCm39)	missense	probably damaging	1.00
R4473:Corin	UTSW	5	72,496,400 (GRCm39)	missense	probably damaging	1.00
R4585:Corin	UTSW	5	72,487,042 (GRCm39)	missense	probably damaging	1.00
R4586:Corin	UTSW	5	72,487,042 (GRCm39)	missense	probably damaging	1.00
R4849:Corin	UTSW	5	72,460,178 (GRCm39)	missense	probably damaging	1.00
R4926:Corin	UTSW	5	72,529,525 (GRCm39)	missense	probably damaging	1.00
R5080:Corin	UTSW	5	72,511,194 (GRCm39)	intron	probably benign
R5138:Corin	UTSW	5	72,496,402 (GRCm39)	missense	probably damaging	1.00
R5262:Corin	UTSW	5	72,462,298 (GRCm39)	missense	probably damaging	1.00
R5268:Corin	UTSW	5	72,500,362 (GRCm39)	missense	probably damaging	1.00
R5302:Corin	UTSW	5	72,473,441 (GRCm39)	missense	probably benign	0.07
R5307:Corin	UTSW	5	72,514,321 (GRCm39)	missense	probably damaging	1.00
R5352:Corin	UTSW	5	72,462,376 (GRCm39)	missense	probably benign	0.04
R5373:Corin	UTSW	5	72,462,296 (GRCm39)	missense	probably damaging	1.00
R5374:Corin	UTSW	5	72,462,296 (GRCm39)	missense	probably damaging	1.00
R5484:Corin	UTSW	5	72,515,827 (GRCm39)	missense	probably benign	0.15
R5502:Corin	UTSW	5	72,473,449 (GRCm39)	nonsense	probably null
R5544:Corin	UTSW	5	72,462,357 (GRCm39)	nonsense	probably null
R5682:Corin	UTSW	5	72,579,497 (GRCm39)	missense	possibly damaging	0.85
R5818:Corin	UTSW	5	72,592,738 (GRCm39)	missense	probably benign	0.00
R5992:Corin	UTSW	5	72,473,732 (GRCm39)	missense	probably benign	0.01
R6115:Corin	UTSW	5	72,518,072 (GRCm39)	missense	probably damaging	1.00
R6181:Corin	UTSW	5	72,529,439 (GRCm39)	critical splice donor site	probably null
R6317:Corin	UTSW	5	72,496,388 (GRCm39)	missense	probably damaging	1.00
R7053:Corin	UTSW	5	72,458,870 (GRCm39)	missense	probably benign	0.28
R7242:Corin	UTSW	5	72,462,398 (GRCm39)	missense	probably benign	0.14
R7452:Corin	UTSW	5	72,592,590 (GRCm39)	missense	possibly damaging	0.94
R7783:Corin	UTSW	5	72,458,967 (GRCm39)	missense	probably benign	0.26
R7903:Corin	UTSW	5	72,458,843 (GRCm39)	missense	probably benign	0.00
R7956:Corin	UTSW	5	72,579,530 (GRCm39)	missense	probably damaging	0.99
R8007:Corin	UTSW	5	72,473,446 (GRCm39)	missense	probably damaging	0.96
R8125:Corin	UTSW	5	72,515,806 (GRCm39)	missense	probably damaging	0.96
R8215:Corin	UTSW	5	72,462,361 (GRCm39)	missense	probably damaging	1.00
R8251:Corin	UTSW	5	72,514,269 (GRCm39)	missense	probably damaging	1.00
R8364:Corin	UTSW	5	72,462,274 (GRCm39)	missense	probably benign
R8505:Corin	UTSW	5	72,592,750 (GRCm39)	missense	probably benign	0.21
R8746:Corin	UTSW	5	72,592,695 (GRCm39)	missense	probably benign	0.31
R8887:Corin	UTSW	5	72,486,953 (GRCm39)	critical splice donor site	probably null
R9484:Corin	UTSW	5	72,497,280 (GRCm39)	missense	probably damaging	1.00
R9640:Corin	UTSW	5	72,592,597 (GRCm39)	missense	probably benign
Z1177:Corin	UTSW	5	72,611,836 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGTGTCCCCTGAAAGCAAC -3'
(R):5'- AGGCACCTGCATGAACATC -3'

Sequencing Primer
(F):5'- CTTCCCGTAAAACATGAATCTGG -3'
(R):5'- TGCATGAACATCACTCACAGC -3'

Posted On

2016-07-22