Mutagenetix > Incidental Mutation

Incidental Mutation 'R4585:Corin'

344004

Institutional Source

Beutler Lab

Gene Symbol

Corin

Ensembl Gene

ENSMUSG00000005220

Gene Name

corin

Synonyms

Lrp4

MMRRC Submission

041806-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72300025-72504473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72329699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 706 (V706D)

Ref Sequence

ENSEMBL: ENSMUSP00000127389 (fasta)

Gene Model

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

AlphaFold

Q9Z319

Predicted Effect

probably damaging
Transcript: ENSMUST00000005352
AA Change: V772D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: V772D

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: V706D

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

SMART Domains

Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: V706D

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: V631D

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

SMART Domains

Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: V631D

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 benign
Transcript: ENSMUST00000176974
AA Change: V669D

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: V669D

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: V639D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: V639D

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

Meta Mutation Damage Score

0.2187

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 3,976,151	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,310,927	R58L	probably benign	Het
Art2a-ps	A	T	7: 101,554,749	L194*	probably null	Het
Aurkaip1	C	A	4: 155,832,634	A113D	possibly damaging	Het
Bsn	T	C	9: 108,110,463		probably benign	Het
Ccdc175	T	G	12: 72,175,179	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,110,920	T131A	probably benign	Het
Ccnt2	T	C	1: 127,803,029	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,337	Q224R	probably damaging	Het
Cic	A	T	7: 25,272,778	I645L	probably benign	Het
Cngb1	C	T	8: 95,297,128		probably null	Het
Col13a1	T	C	10: 61,887,245		probably null	Het
Crebrf	A	G	17: 26,762,255	K535R	probably damaging	Het
Cuzd1	G	A	7: 131,314,800	P310L	probably damaging	Het
Cxcr5	T	A	9: 44,514,145	I72F	probably benign	Het
Dapp1	T	C	3: 137,939,171	Q148R	probably benign	Het
Dcaf17	T	A	2: 71,088,580	S499R	probably benign	Het
Defb3	A	T	8: 19,295,156	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,727,999		probably null	Het
Dnah8	A	G	17: 30,751,567	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,347,778	F710V	probably damaging	Het
Ep400	G	A	5: 110,753,859	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157	Q14*	probably null	Het
Eral1	A	T	11: 78,078,304	N123K	probably damaging	Het
Ercc5	G	A	1: 44,158,857	V145I	probably benign	Het
Evc	A	G	5: 37,323,713	S263P	probably damaging	Het
Fancc	A	T	13: 63,347,564	M182K	probably benign	Het
Fbxl3	G	T	14: 103,083,090	A355E	probably damaging	Het
Glra3	C	A	8: 56,088,993	T257K	probably damaging	Het
Gm12789	A	G	4: 101,989,962	Y148C	possibly damaging	Het
Gm14393	C	A	2: 175,062,704		probably benign	Het
Gm19965	T	A	1: 116,821,778	N396K	probably benign	Het
Gm27013	A	T	6: 130,521,040		noncoding transcript	Het
Gmcl1	A	G	6: 86,722,623	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,865,751		probably null	Het
Gtf2a1	C	T	12: 91,562,926	V338I	possibly damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hist1h2ak	T	C	13: 21,753,712	N39S	possibly damaging	Het
Ints2	G	T	11: 86,249,275	R244S	probably damaging	Het
Itgb4	T	C	11: 115,993,325	V945A	probably damaging	Het
Itih2	C	T	2: 10,110,400	S387N	probably benign	Het
Klra2	T	A	6: 131,230,157	D163V	probably benign	Het
Lctl	T	C	9: 64,131,600	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,723,689	R43L	probably damaging	Het
Mogs	G	T	6: 83,118,638	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,789,271	T467S	probably benign	Het
Mtap	G	A	4: 89,172,274	V194I	probably benign	Het
Myoz1	A	G	14: 20,650,595	W185R	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Obox1	A	T	7: 15,556,227	N165I	possibly damaging	Het
Olfr1218	T	G	2: 89,055,154	I91L	possibly damaging	Het
Olfr3	C	T	2: 36,812,525	C189Y	probably damaging	Het
Olfr32	T	A	2: 90,138,214	E308D	probably benign	Het
Olfr781	A	G	10: 129,333,273	T131A	probably benign	Het
Pabpc6	A	G	17: 9,669,073	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,624,284	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,762,360	A161E	probably benign	Het
Pex1	A	G	5: 3,633,885	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,743,510	H563L	probably damaging	Het
Plekha2	C	A	8: 25,043,669	E291*	probably null	Het
Qser1	C	A	2: 104,786,793	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,315,024	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,842,596	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864	T598S	unknown	Het
Scn2a	T	A	2: 65,743,051		probably null	Het
Serpinb10	T	A	1: 107,547,049	C314S	probably benign	Het
Setbp1	A	C	18: 79,086,949	S23A	probably benign	Het
Sh3pxd2b	A	G	11: 32,396,479	D116G	possibly damaging	Het
Slc4a1	G	T	11: 102,361,419		probably benign	Het
Snx19	T	C	9: 30,440,195	L155P	probably damaging	Het
Sox2	A	G	3: 34,651,044	N210S	probably benign	Het
Spag6	T	C	2: 18,732,147		probably null	Het
Speer4b	A	T	5: 27,498,038	L154Q	probably null	Het
Strn3	T	A	12: 51,650,170	E259D	probably benign	Het
Tenm1	G	A	X: 42,537,979	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,207,951	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,982,530	Q492K	probably benign	Het
Ttn	T	C	2: 76,968,403	H509R	probably benign	Het
Utrn	T	A	10: 12,688,306	H1270L	probably benign	Het
Vopp1	G	A	6: 57,754,548	P153S	probably damaging	Het
Wdfy4	T	A	14: 33,087,955	I1770F	possibly damaging	Het
Zfp14	G	T	7: 30,038,916	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,732,952	Y651*	probably null	Het
Zfp735	G	T	11: 73,689,724	E16D	possibly damaging	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
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
R5268:Corin	UTSW	5	72343019	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
R9640:Corin	UTSW	5	72435254	missense	probably benign
Z1177:Corin	UTSW	5	72454493	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTCAAGGGCTTTGGAGAGC -3'
(R):5'- GATTTGCACAGAGAGGATCAAC -3'

Sequencing Primer
(F):5'- GAGAGCTCTGATTTTTCCAGTTC -3'
(R):5'- GAGAGGATCAACCCCAAATGGTTC -3'

Posted On

2015-09-24