Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03185:Corin'

412419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Corin

Ensembl Gene

ENSMUSG00000005220

Gene Name

corin, serine peptidase

Synonyms

Lrp4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL03185

Quality Score

Status

Chromosome

Chromosomal Location

72457368-72661816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72490124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 542 (G542D)

Ref Sequence

ENSEMBL: ENSMUSP00000135889 (fasta)

Gene Model

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

AlphaFold

Q9Z319

Predicted Effect

probably damaging
Transcript: ENSMUST00000005352
AA Change: G683D

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

SMART Domains

Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: G683D

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: G617D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: G617D

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: G542D

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

SMART Domains

Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: G542D

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

noncoding transcript
Transcript: ENSMUST00000176396

Predicted Effect

probably damaging
Transcript: ENSMUST00000176974
AA Change: G580D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: G580D

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: G550D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: G550D

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,255,212 (GRCm39)	D77G	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Babam2	T	C	5: 31,859,376 (GRCm39)	I27T	possibly damaging	Het
Ccdc150	A	G	1: 54,339,482 (GRCm39)	E442G	probably damaging	Het
Ccdc92	A	G	5: 124,913,014 (GRCm39)	Y172H	probably damaging	Het
Chl1	T	A	6: 103,642,824 (GRCm39)	D187E	probably damaging	Het
Col6a4	A	T	9: 105,896,653 (GRCm39)	F1721I	probably damaging	Het
Dennd1c	C	T	17: 57,373,803 (GRCm39)	D587N	probably benign	Het
Dnah10	A	G	5: 124,894,707 (GRCm39)	Y3424C	probably damaging	Het
Echdc1	T	A	10: 29,207,836 (GRCm39)	F127I	possibly damaging	Het
F13b	T	A	1: 139,444,124 (GRCm39)	V486E	probably benign	Het
Fkbp15	C	T	4: 62,250,423 (GRCm39)		probably null	Het
Glt8d2	T	A	10: 82,498,110 (GRCm39)	I100F	probably damaging	Het
Gmip	C	T	8: 70,262,433 (GRCm39)	P10L	probably benign	Het
Grm7	T	C	6: 110,623,183 (GRCm39)	S119P	possibly damaging	Het
Klf4	T	C	4: 55,530,911 (GRCm39)	T58A	possibly damaging	Het
Mink1	T	C	11: 70,494,686 (GRCm39)	I289T	probably damaging	Het
Mptx2	A	T	1: 173,102,356 (GRCm39)	V111D	possibly damaging	Het
Muc5b	A	T	7: 141,416,559 (GRCm39)	E3168D	possibly damaging	Het
Mylk3	C	A	8: 86,053,833 (GRCm39)	V695F	probably damaging	Het
Or11j4	C	A	14: 50,630,855 (GRCm39)	T214K	probably damaging	Het
Or7g21	T	A	9: 19,033,034 (GRCm39)	V258E	probably damaging	Het
Pcare	A	T	17: 72,056,332 (GRCm39)	I1115K	probably damaging	Het
Pira13	A	G	7: 3,826,229 (GRCm39)	Y255H	probably damaging	Het
Poglut2	G	A	1: 44,156,359 (GRCm39)	S76L	probably benign	Het
Pprc1	C	A	19: 46,058,186 (GRCm39)		probably benign	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prss50	A	G	9: 110,687,279 (GRCm39)	Y74C	probably benign	Het
Rnf145	T	C	11: 44,422,157 (GRCm39)	L80P	probably damaging	Het
Serpinb3b	T	C	1: 107,084,662 (GRCm39)	I120V	probably benign	Het
Sgca	T	C	11: 94,861,610 (GRCm39)	M212V	probably benign	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc30a9	A	G	5: 67,490,406 (GRCm39)	R226G	probably benign	Het
Slc5a11	A	G	7: 122,864,412 (GRCm39)	D336G	possibly damaging	Het
Slfn8	T	C	11: 82,908,333 (GRCm39)	H70R	probably benign	Het
Stoml2	T	C	4: 43,029,065 (GRCm39)	N269S	probably benign	Het
Synrg	A	G	11: 83,872,305 (GRCm39)	E142G	probably damaging	Het
Thbs2	G	A	17: 14,901,672 (GRCm39)	Q436*	probably null	Het
Tyk2	T	C	9: 21,020,680 (GRCm39)	N917S	probably damaging	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp446	G	T	7: 12,712,925 (GRCm39)	V88F	probably null	Het
Zp3	A	G	5: 136,011,575 (GRCm39)	N131S	possibly 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
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
R5324:Corin	UTSW	5	72,592,600 (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

Posted On

2016-08-02