Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Corin'

399906

Institutional Source

Beutler Lab

Gene Symbol

Corin

Ensembl Gene

ENSMUSG00000005220

Gene Name

corin

Synonyms

Lrp4

MMRRC Submission

042860-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72300025-72504473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72343019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 421 (S421A)

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: S554A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: S554A

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

possibly damaging
Transcript: ENSMUST00000167460
AA Change: S488A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: S488A

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: S413A

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

SMART Domains

Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: S413A

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

possibly damaging
Transcript: ENSMUST00000176974
AA Change: S451A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: S451A

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: S421A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: S421A

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810032O08Rik	G	T	11: 116,671,756	M18I	probably benign	Het
Adamtsl4	C	A	3: 95,680,163	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,450,999	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,881,862	T333A	possibly damaging	Het
Aspm	G	T	1: 139,464,295	G795C	probably damaging	Het
Car4	C	A	11: 84,965,800	Q305K	probably benign	Het
Catsperg1	T	C	7: 29,195,247	N612S	probably benign	Het
Cdc5l	G	A	17: 45,415,585	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,013	V623I	probably benign	Het
Cfap65	A	G	1: 74,924,902	V629A	probably benign	Het
Chd1	G	A	17: 15,735,743	V535I	probably damaging	Het
Col12a1	A	G	9: 79,678,047	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,785,243	D1721E	unknown	Het
Cop1	T	A	1: 159,327,164	F647L	probably damaging	Het
Crb2	T	C	2: 37,790,821	V587A	probably damaging	Het
Ctc1	T	A	11: 69,029,810	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 27,031,218	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,516,657	K336M	possibly damaging	Het
Ddx39	G	A	8: 83,722,321	R275H	probably benign	Het
Des	A	G	1: 75,362,928	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,459,838	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,579,060	E149G	probably benign	Het
Dpep1	A	T	8: 123,194,089	I3F	probably benign	Het
Eml6	T	A	11: 29,803,108	R934S	probably benign	Het
Ercc6l2	T	C	13: 63,869,111	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Frem2	T	A	3: 53,653,154	I1311F	probably damaging	Het
Gldc	T	A	19: 30,145,725	M257L	probably damaging	Het
Gm5538	A	G	3: 59,752,023	E299G	probably damaging	Het
Gm8674	T	G	13: 49,901,354		noncoding transcript	Het
Gnai3	C	T	3: 108,123,541		probably null	Het
Gtf3a	A	G	5: 146,955,155	D300G	probably damaging	Het
Haus3	A	T	5: 34,166,105	V387D	probably damaging	Het
Hpf1	T	A	8: 60,893,734	F28I	possibly damaging	Het
Iars	A	G	13: 49,690,491	D147G	probably damaging	Het
Ibtk	A	T	9: 85,743,690	D2E	probably benign	Het
Ift140	T	A	17: 25,020,627	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 22,079,491	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,322,632	A30E	probably benign	Het
Kcnq5	T	A	1: 21,505,725	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,461,363	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,564,690	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,272,094	I863F	possibly damaging	Het
Muc4	T	A	16: 32,751,666	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,708,881		probably null	Het
Neu4	G	A	1: 94,024,947	R346H	probably benign	Het
Nxpe5	T	A	5: 138,239,938	Y253*	probably null	Het
Olfml2b	A	T	1: 170,649,761	E155V	probably damaging	Het
Olfr160	T	A	9: 37,712,004	I92F	probably damaging	Het
Olfr2	T	A	7: 107,000,904	N319Y	probably benign	Het
Olfr304	A	G	7: 86,385,659	*334Q	probably null	Het
Pamr1	G	A	2: 102,586,684	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,177	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,726,964	L5F	probably damaging	Het
Plce1	T	A	19: 38,758,835	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,787,431	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rcn3	A	T	7: 45,086,779	D168E	probably damaging	Het
Rdh1	T	G	10: 127,759,963	V9G	possibly damaging	Het
Rin2	A	G	2: 145,844,760	T70A	probably benign	Het
Rnf207	T	C	4: 152,313,889	D276G	probably damaging	Het
Rtel1	C	T	2: 181,340,561	S368L	probably benign	Het
Slc15a5	C	A	6: 138,079,753	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,726,916	F213L	possibly damaging	Het
Spata25	C	T	2: 164,828,034	G19D	probably damaging	Het
St5	A	G	7: 109,557,312	L77P	probably benign	Het
Tas2r102	A	T	6: 132,762,397	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,324,567	K704E	probably damaging	Het
Tert	T	G	13: 73,627,354	S75A	probably damaging	Het
Tiparp	T	A	3: 65,547,565	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,926,084	Y57*	probably null	Het
Tomm22	A	G	15: 79,671,227	R5G	probably benign	Het
Trav10	A	T	14: 53,506,058	S39C	probably benign	Het
Trav6-2	T	A	14: 52,667,748	N75K	probably benign	Het
Trio	T	C	15: 27,748,286	S2427G	probably benign	Het
Ttc41	C	A	10: 86,744,478	H763N	possibly damaging	Het
Usp29	A	T	7: 6,961,584	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,556,742	W181L	probably damaging	Het
Vmn2r76	G	A	7: 86,226,059	T570M	probably damaging	Het
Wdr90	A	G	17: 25,850,845	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,328,570	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299	I1422L	probably benign	Het

Other mutations in Corin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Corin	APN	5	72304888	missense	probably damaging	1.00
IGL01114:Corin	APN	5	72305011	missense	probably damaging	1.00
IGL01351:Corin	APN	5	72338991	missense	probably damaging	1.00
IGL01516:Corin	APN	5	72454487	nonsense	probably null
IGL01785:Corin	APN	5	72339876	missense	probably damaging	1.00
IGL01786:Corin	APN	5	72339876	missense	probably damaging	1.00
IGL01845:Corin	APN	5	72353939	missense	probably damaging	1.00
IGL02097:Corin	APN	5	72372146	missense	probably damaging	1.00
IGL02629:Corin	APN	5	72332673	missense	probably damaging	1.00
IGL03085:Corin	APN	5	72353930	missense	probably damaging	1.00
IGL03120:Corin	APN	5	72360689	missense	probably damaging	1.00
IGL03150:Corin	APN	5	72302858	missense	probably damaging	1.00
IGL03183:Corin	APN	5	72301586	missense	probably damaging	0.99
IGL03185:Corin	APN	5	72332781	missense	probably damaging	1.00
IGL03408:Corin	APN	5	72342961	missense	probably benign	0.40
alpaca	UTSW	5	72503952	missense	possibly damaging	0.85
R0078:Corin	UTSW	5	72454473	missense	possibly damaging	0.77
R0724:Corin	UTSW	5	72332795	splice site	probably benign
R1065:Corin	UTSW	5	72301650	nonsense	probably null
R1301:Corin	UTSW	5	72304933	missense	possibly damaging	0.81
R1466:Corin	UTSW	5	72302790	critical splice donor site	probably null
R1466:Corin	UTSW	5	72302790	critical splice donor site	probably null
R1520:Corin	UTSW	5	72330895	missense	probably damaging	1.00
R1584:Corin	UTSW	5	72302790	critical splice donor site	probably null
R1617:Corin	UTSW	5	72503952	missense	possibly damaging	0.85
R1912:Corin	UTSW	5	72358403	missense	probably damaging	1.00
R2059:Corin	UTSW	5	72316051	missense	possibly damaging	0.76
R2173:Corin	UTSW	5	72504079	missense	probably benign	0.01
R2242:Corin	UTSW	5	72332711	missense	probably damaging	1.00
R2373:Corin	UTSW	5	72339038	missense	probably damaging	1.00
R2850:Corin	UTSW	5	72304955	missense	probably damaging	1.00
R3683:Corin	UTSW	5	72330855	missense	probably damaging	1.00
R3684:Corin	UTSW	5	72330855	missense	probably damaging	1.00
R3790:Corin	UTSW	5	72435298	missense	probably benign	0.38
R3847:Corin	UTSW	5	72422165	missense	probably benign	0.13
R3926:Corin	UTSW	5	72372130	missense	probably damaging	1.00
R3939:Corin	UTSW	5	72339879	missense	possibly damaging	0.80
R3945:Corin	UTSW	5	72358424	missense	probably damaging	1.00
R4079:Corin	UTSW	5	72503883	missense	probably benign	0.03
R4224:Corin	UTSW	5	72343108	missense	probably damaging	1.00
R4473:Corin	UTSW	5	72339057	missense	probably damaging	1.00
R4585:Corin	UTSW	5	72329699	missense	probably damaging	1.00
R4586:Corin	UTSW	5	72329699	missense	probably damaging	1.00
R4849:Corin	UTSW	5	72302835	missense	probably damaging	1.00
R4926:Corin	UTSW	5	72372182	missense	probably damaging	1.00
R5080:Corin	UTSW	5	72353851	intron	probably benign
R5138:Corin	UTSW	5	72339059	missense	probably damaging	1.00
R5262:Corin	UTSW	5	72304955	missense	probably damaging	1.00
R5302:Corin	UTSW	5	72316098	missense	probably benign	0.07
R5307:Corin	UTSW	5	72356978	missense	probably damaging	1.00
R5324:Corin	UTSW	5	72435257	missense	probably damaging	1.00
R5352:Corin	UTSW	5	72305033	missense	probably benign	0.04
R5373:Corin	UTSW	5	72304953	missense	probably damaging	1.00
R5374:Corin	UTSW	5	72304953	missense	probably damaging	1.00
R5484:Corin	UTSW	5	72358484	missense	probably benign	0.15
R5502:Corin	UTSW	5	72316106	nonsense	probably null
R5544:Corin	UTSW	5	72305014	nonsense	probably null
R5682:Corin	UTSW	5	72422154	missense	possibly damaging	0.85
R5818:Corin	UTSW	5	72435395	missense	probably benign	0.00
R5992:Corin	UTSW	5	72316389	missense	probably benign	0.01
R6115:Corin	UTSW	5	72360729	missense	probably damaging	1.00
R6181:Corin	UTSW	5	72372096	critical splice donor site	probably null
R6317:Corin	UTSW	5	72339045	missense	probably damaging	1.00
R7053:Corin	UTSW	5	72301527	missense	probably benign	0.28
R7242:Corin	UTSW	5	72305055	missense	probably benign	0.14
R7452:Corin	UTSW	5	72435247	missense	possibly damaging	0.94
R7783:Corin	UTSW	5	72301624	missense	probably benign	0.26
R7903:Corin	UTSW	5	72301500	missense	probably benign	0.00
R7956:Corin	UTSW	5	72422187	missense	probably damaging	0.99
R8007:Corin	UTSW	5	72316103	missense	probably damaging	0.96
R8125:Corin	UTSW	5	72358463	missense	probably damaging	0.96
R8215:Corin	UTSW	5	72305018	missense	probably damaging	1.00
R8251:Corin	UTSW	5	72356926	missense	probably damaging	1.00
R8364:Corin	UTSW	5	72304931	missense	probably benign
R8505:Corin	UTSW	5	72435407	missense	probably benign	0.21
R8746:Corin	UTSW	5	72435352	missense	probably benign	0.31
R8887:Corin	UTSW	5	72329610	critical splice donor site	probably null
R9484:Corin	UTSW	5	72339937	missense	probably damaging	1.00
Z1177:Corin	UTSW	5	72454493	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTCCTTAGCAGTCTTTATCTGTG -3'
(R):5'- GGAAGCTTAAAGAGGCTGTTTC -3'

Sequencing Primer
(F):5'- GTGTAAATTCAGCTCCGTGC -3'
(R):5'- TGAGCCCATCACTTTGGA -3'

Posted On

2016-07-06