Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Corin'

308590

Institutional Source

Beutler Lab

Gene Symbol

Corin

Ensembl Gene

ENSMUSG00000005220

Gene Name

corin, serine peptidase

Synonyms

Lrp4

MMRRC Submission

040826-MU

Accession Numbers

Essential gene?

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

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72457368-72661816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72497222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 531 (D531G)

Ref Sequence

ENSEMBL: ENSMUSP00000135722 (fasta)

Gene Model

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

AlphaFold

Q9Z319

Predicted Effect

probably benign
Transcript: ENSMUST00000005352
AA Change: D634G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: D634G

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: ENSMUST00000167460
AA Change: D568G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: D568G

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 benign
Transcript: ENSMUST00000175766
AA Change: D493G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: D493G

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: D531G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: D531G

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 benign
Transcript: ENSMUST00000177290
AA Change: D501G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: D501G

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

0.2426

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Atp13a2	T	C	4: 140,733,733 (GRCm39)	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Col13a1	T	C	10: 61,698,861 (GRCm39)	I491V	unknown	Het
Cx3cr1	C	T	9: 119,880,710 (GRCm39)	V231I	probably benign	Het
Dennd4c	T	G	4: 86,692,517 (GRCm39)	V9G	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Faf1	T	G	4: 109,719,076 (GRCm39)	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,304,307 (GRCm39)	D116N	probably null	Het
Flt3	A	G	5: 147,293,053 (GRCm39)	Y518H	possibly damaging	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gk2	T	A	5: 97,603,211 (GRCm39)	L542F	possibly damaging	Het
Gm4922	T	A	10: 18,660,362 (GRCm39)	E120V	probably damaging	Het
Hip1	A	T	5: 135,457,618 (GRCm39)	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,095 (GRCm39)	D266E	probably damaging	Het
Kdr	C	T	5: 76,133,089 (GRCm39)	W63*	probably null	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Megf8	G	A	7: 25,058,627 (GRCm39)	V2208I	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nktr	T	A	9: 121,578,135 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,515,849 (GRCm39)	I1207T	probably damaging	Het
Obox7	G	A	7: 14,397,972 (GRCm39)	G4D	probably benign	Het
Ogdh	G	A	11: 6,300,655 (GRCm39)	W827*	probably null	Het
Or13g1	T	C	7: 85,955,437 (GRCm39)	M295V	probably benign	Het
Or4c118	T	A	2: 88,974,474 (GRCm39)	K298*	probably null	Het
Or4k15c	A	G	14: 50,321,173 (GRCm39)	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sbpl	T	A	17: 24,172,617 (GRCm39)	I101L	probably benign	Het
Serpina9	T	A	12: 103,975,151 (GRCm39)	M1L	probably benign	Het
Stxbp6	A	G	12: 44,949,641 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,908,239 (GRCm39)	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Vil1	A	G	1: 74,471,574 (GRCm39)	D785G	probably benign	Het
Zfp345	G	A	2: 150,314,473 (GRCm39)	H355Y	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
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

Predicted Primers

PCR Primer
(F):5'- AGCATCGAACCAATACGTGC -3'
(R):5'- GCATTCTGAGCATACATTTCTCATG -3'

Sequencing Primer
(F):5'- GCACCTTCTAGAGCAATCAGGTAG -3'
(R):5'- TGGAGCTACATGACTTCTGACAC -3'

Posted On

2015-04-17