Incidental Mutation 'R4473:Corin'
| ID |
330452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Corin
|
| Ensembl Gene |
ENSMUSG00000005220 |
| Gene Name |
corin |
| Synonyms |
Lrp4 |
| MMRRC Submission |
041730-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R4473 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72300025-72504473 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72339057 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 510
(S510G)
|
| 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: S651G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: S651G
| 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: S585G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: S585G
| 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: S510G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: S510G
| 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: S548G
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: S548G
| 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: S518G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: S518G
| 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 |
0.3195 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,206,856 |
T93K |
probably damaging |
Het |
| Actg1 |
G |
A |
11: 120,348,259 |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,464,053 |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,680,018 |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,457,264 |
S1008T |
probably benign |
Het |
| D630003M21Rik |
G |
A |
2: 158,213,462 |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,116,779 |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,261,009 |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,848,456 |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,862,200 |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,731,674 |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,850,163 |
V128A |
possibly damaging |
Het |
| Gm3106 |
A |
G |
5: 94,218,170 |
N49S |
probably benign |
Het |
| Ifnar1 |
T |
C |
16: 91,495,170 |
V133A |
probably damaging |
Het |
| Ighv1-49 |
A |
T |
12: 115,055,339 |
Y79N |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,823,807 |
E7G |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,310,535 |
|
probably benign |
Het |
| Olfr1161 |
T |
A |
2: 88,025,120 |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,664,685 |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,131,985 |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,511,978 |
Q228K |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,695,263 |
T85M |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 164,071,692 |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,859,461 |
P293S |
unknown |
Het |
| Sox18 |
T |
C |
2: 181,670,876 |
K154R |
probably damaging |
Het |
| Tfpi |
A |
T |
2: 84,458,082 |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,481,995 |
I239N |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,492,609 |
K304N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,985,648 |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,894,891 |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,015,995 |
Y651C |
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 |
|
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 |
|
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'- GATGCCGCTTCCTAGAATAAGC -3'
(R):5'- GGTGCTAGGTACTGATCTGAAG -3'
Sequencing Primer
(F):5'- GCAAACAGTTTACTTATTCCAACAC -3'
(R):5'- GGTACTGATCTGAAGTGATAGTACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation