Incidental Mutation 'R0128:Gucy2c'
| ID |
21507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
038413-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0128 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
136697284-136781765 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136704249 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 946
(V946I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032338
AA Change: V946I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: V946I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
113 |
384 |
3.7e-8 |
PFAM |
|
transmembrane domain
|
432 |
454 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
498 |
744 |
3.4e-33 |
PFAM |
|
Pfam:Pkinase
|
499 |
744 |
1e-26 |
PFAM |
|
CYCc
|
787 |
982 |
2.68e-107 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078095
AA Change: V922I
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: V922I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
53 |
385 |
2.7e-41 |
PFAM |
|
transmembrane domain
|
432 |
454 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
475 |
720 |
6.5e-32 |
PFAM |
|
Pfam:Pkinase
|
480 |
720 |
7.2e-25 |
PFAM |
|
CYCc
|
763 |
958 |
2.68e-107 |
SMART |
|
| Meta Mutation Damage Score |
0.3810 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.6%
- 10x: 93.0%
- 20x: 79.3%
|
| Validation Efficiency |
99% (84/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,575,639 (GRCm38) |
|
probably benign |
Het |
| Abcd4 |
T |
G |
12: 84,612,352 (GRCm38) |
Q210P |
possibly damaging |
Het |
| Ablim2 |
G |
A |
5: 35,809,176 (GRCm38) |
|
probably benign |
Het |
| Actl6b |
A |
G |
5: 137,555,065 (GRCm38) |
N113S |
probably benign |
Het |
| Actn3 |
A |
T |
19: 4,871,615 (GRCm38) |
V179E |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,415,466 (GRCm38) |
T1145N |
probably damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,591,859 (GRCm38) |
Q431* |
probably null |
Het |
| Anxa9 |
A |
G |
3: 95,302,422 (GRCm38) |
S129P |
probably benign |
Het |
| Arfgef2 |
T |
G |
2: 166,835,719 (GRCm38) |
I88S |
probably damaging |
Het |
| Asap3 |
C |
A |
4: 136,234,604 (GRCm38) |
N285K |
probably damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,713,184 (GRCm38) |
N477S |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,028,172 (GRCm38) |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 (GRCm38) |
|
probably null |
Het |
| C87436 |
G |
A |
6: 86,469,827 (GRCm38) |
G533D |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,528,360 (GRCm38) |
I314N |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,825,626 (GRCm38) |
F237S |
probably damaging |
Het |
| Ccz1 |
T |
G |
5: 144,009,294 (GRCm38) |
|
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 107,106,707 (GRCm38) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,393,567 (GRCm38) |
N531S |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,635,007 (GRCm38) |
F476I |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm38) |
P568L |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,121,039 (GRCm38) |
Y373N |
probably benign |
Het |
| Cr2 |
A |
T |
1: 195,166,231 (GRCm38) |
V328D |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,149,771 (GRCm38) |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,187,672 (GRCm38) |
|
probably benign |
Het |
| Dlg1 |
G |
T |
16: 31,858,065 (GRCm38) |
|
probably null |
Het |
| Epb41l5 |
A |
C |
1: 119,549,902 (GRCm38) |
V705G |
possibly damaging |
Het |
| Ergic3 |
C |
A |
2: 156,011,140 (GRCm38) |
R43S |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,604,092 (GRCm38) |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,511,982 (GRCm38) |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,201,995 (GRCm38) |
T443A |
probably damaging |
Het |
| Ghrl |
A |
T |
6: 113,717,168 (GRCm38) |
|
probably benign |
Het |
| Gm1141 |
T |
C |
X: 71,939,555 (GRCm38) |
C378R |
possibly damaging |
Het |
| Gm12166 |
A |
G |
11: 46,052,293 (GRCm38) |
M1T |
probably null |
Het |
| Gm4787 |
T |
A |
12: 81,377,747 (GRCm38) |
K546* |
probably null |
Het |
| Gm498 |
G |
T |
7: 143,891,755 (GRCm38) |
G178C |
probably damaging |
Het |
| Gm6576 |
C |
G |
15: 27,026,000 (GRCm38) |
|
noncoding transcript |
Het |
| Got1 |
C |
T |
19: 43,524,377 (GRCm38) |
D27N |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,349,243 (GRCm38) |
Y3434H |
possibly damaging |
Het |
| Hp1bp3 |
C |
T |
4: 138,237,209 (GRCm38) |
S348F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,471,209 (GRCm38) |
|
probably benign |
Het |
| Kctd1 |
G |
A |
18: 14,974,180 (GRCm38) |
P743S |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,833,966 (GRCm38) |
V553A |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,280,267 (GRCm38) |
D495G |
probably damaging |
Het |
| L3hypdh |
C |
T |
12: 72,077,143 (GRCm38) |
|
probably null |
Het |
| Lipo3 |
C |
T |
19: 33,557,106 (GRCm38) |
|
probably null |
Het |
| Lman2l |
G |
T |
1: 36,424,864 (GRCm38) |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,511,508 (GRCm38) |
D378G |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,248,063 (GRCm38) |
D1104V |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,461,223 (GRCm38) |
V15A |
probably benign |
Het |
| Narf |
C |
T |
11: 121,250,836 (GRCm38) |
R356C |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,393,023 (GRCm38) |
Q487H |
possibly damaging |
Het |
| Olfm5 |
G |
A |
7: 104,160,926 (GRCm38) |
A76V |
probably benign |
Het |
| Olfr1090 |
T |
C |
2: 86,753,887 (GRCm38) |
M284V |
probably benign |
Het |
| Olfr339 |
T |
A |
2: 36,422,287 (GRCm38) |
D296E |
probably benign |
Het |
| Olfr372 |
C |
T |
8: 72,058,400 (GRCm38) |
T240M |
probably damaging |
Het |
| Olfr656 |
A |
T |
7: 104,618,581 (GRCm38) |
I301F |
probably damaging |
Het |
| Olfr992 |
T |
A |
2: 85,399,961 (GRCm38) |
S191C |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 122,128,166 (GRCm38) |
Y160* |
probably null |
Het |
| Paxip1 |
C |
T |
5: 27,744,185 (GRCm38) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,679,797 (GRCm38) |
|
probably benign |
Het |
| Pdcd11 |
G |
A |
19: 47,119,862 (GRCm38) |
V1223I |
probably benign |
Het |
| Pde6c |
T |
C |
19: 38,169,365 (GRCm38) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 45,050,039 (GRCm38) |
|
probably benign |
Het |
| Prss39 |
T |
A |
1: 34,502,200 (GRCm38) |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,674,939 (GRCm38) |
W9R |
probably damaging |
Het |
| Sfr1 |
A |
G |
19: 47,735,018 (GRCm38) |
*320W |
probably null |
Het |
| Sh3bp4 |
A |
G |
1: 89,145,314 (GRCm38) |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,907,961 (GRCm38) |
I104F |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,636,209 (GRCm38) |
M519V |
probably benign |
Het |
| Smcp |
T |
A |
3: 92,584,520 (GRCm38) |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,300,816 (GRCm38) |
|
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,093,539 (GRCm38) |
I327N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,754,410 (GRCm38) |
H850N |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 90,021,373 (GRCm38) |
S478T |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,088,434 (GRCm38) |
|
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,419,185 (GRCm38) |
|
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,142,500 (GRCm38) |
D19G |
possibly damaging |
Het |
|
| Other mutations in Gucy2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Gucy2c
|
APN |
6 |
136,765,614 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01081:Gucy2c
|
APN |
6 |
136,702,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01285:Gucy2c
|
APN |
6 |
136,709,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01395:Gucy2c
|
APN |
6 |
136,698,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01408:Gucy2c
|
APN |
6 |
136,698,011 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01752:Gucy2c
|
APN |
6 |
136,770,108 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL01766:Gucy2c
|
APN |
6 |
136,715,973 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02245:Gucy2c
|
APN |
6 |
136,729,203 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02648:Gucy2c
|
APN |
6 |
136,729,213 (GRCm38) |
nonsense |
probably null |
|
|
IGL02794:Gucy2c
|
APN |
6 |
136,713,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03023:Gucy2c
|
APN |
6 |
136,702,796 (GRCm38) |
splice site |
probably null |
|
|
IGL03178:Gucy2c
|
APN |
6 |
136,729,239 (GRCm38) |
splice site |
probably benign |
|
|
IGL03310:Gucy2c
|
APN |
6 |
136,751,046 (GRCm38) |
missense |
probably benign |
|
|
IGL03374:Gucy2c
|
APN |
6 |
136,765,630 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03393:Gucy2c
|
APN |
6 |
136,719,667 (GRCm38) |
missense |
probably benign |
0.04 |
|
BB001:Gucy2c
|
UTSW |
6 |
136,763,055 (GRCm38) |
missense |
probably benign |
0.35 |
|
BB011:Gucy2c
|
UTSW |
6 |
136,763,055 (GRCm38) |
missense |
probably benign |
0.35 |
|
R0031:Gucy2c
|
UTSW |
6 |
136,697,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0377:Gucy2c
|
UTSW |
6 |
136,750,917 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0593:Gucy2c
|
UTSW |
6 |
136,728,335 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0613:Gucy2c
|
UTSW |
6 |
136,760,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Gucy2c
|
UTSW |
6 |
136,727,801 (GRCm38) |
splice site |
probably null |
|
|
R0828:Gucy2c
|
UTSW |
6 |
136,709,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0837:Gucy2c
|
UTSW |
6 |
136,722,420 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0880:Gucy2c
|
UTSW |
6 |
136,709,832 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1350:Gucy2c
|
UTSW |
6 |
136,743,914 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1487:Gucy2c
|
UTSW |
6 |
136,748,826 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1680:Gucy2c
|
UTSW |
6 |
136,722,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1751:Gucy2c
|
UTSW |
6 |
136,748,775 (GRCm38) |
splice site |
probably benign |
|
|
R1791:Gucy2c
|
UTSW |
6 |
136,744,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1953:Gucy2c
|
UTSW |
6 |
136,704,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2135:Gucy2c
|
UTSW |
6 |
136,723,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2227:Gucy2c
|
UTSW |
6 |
136,702,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2350:Gucy2c
|
UTSW |
6 |
136,763,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2906:Gucy2c
|
UTSW |
6 |
136,708,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2907:Gucy2c
|
UTSW |
6 |
136,708,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3699:Gucy2c
|
UTSW |
6 |
136,770,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3972:Gucy2c
|
UTSW |
6 |
136,708,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:Gucy2c
|
UTSW |
6 |
136,708,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4732:Gucy2c
|
UTSW |
6 |
136,767,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4733:Gucy2c
|
UTSW |
6 |
136,767,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4776:Gucy2c
|
UTSW |
6 |
136,722,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5087:Gucy2c
|
UTSW |
6 |
136,767,035 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5284:Gucy2c
|
UTSW |
6 |
136,763,043 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5366:Gucy2c
|
UTSW |
6 |
136,720,741 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5466:Gucy2c
|
UTSW |
6 |
136,781,465 (GRCm38) |
nonsense |
probably null |
|
|
R5911:Gucy2c
|
UTSW |
6 |
136,722,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6160:Gucy2c
|
UTSW |
6 |
136,740,686 (GRCm38) |
nonsense |
probably null |
|
|
R6367:Gucy2c
|
UTSW |
6 |
136,709,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6441:Gucy2c
|
UTSW |
6 |
136,723,761 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6812:Gucy2c
|
UTSW |
6 |
136,697,995 (GRCm38) |
missense |
probably benign |
|
|
R6865:Gucy2c
|
UTSW |
6 |
136,770,129 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7065:Gucy2c
|
UTSW |
6 |
136,720,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7078:Gucy2c
|
UTSW |
6 |
136,697,939 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7096:Gucy2c
|
UTSW |
6 |
136,728,341 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7138:Gucy2c
|
UTSW |
6 |
136,728,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7343:Gucy2c
|
UTSW |
6 |
136,702,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7538:Gucy2c
|
UTSW |
6 |
136,709,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7587:Gucy2c
|
UTSW |
6 |
136,704,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7666:Gucy2c
|
UTSW |
6 |
136,697,968 (GRCm38) |
missense |
probably benign |
|
|
R7675:Gucy2c
|
UTSW |
6 |
136,716,032 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7822:Gucy2c
|
UTSW |
6 |
136,708,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7842:Gucy2c
|
UTSW |
6 |
136,769,816 (GRCm38) |
splice site |
probably null |
|
|
R7924:Gucy2c
|
UTSW |
6 |
136,763,055 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8078:Gucy2c
|
UTSW |
6 |
136,697,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Gucy2c
|
UTSW |
6 |
136,737,448 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8391:Gucy2c
|
UTSW |
6 |
136,704,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8428:Gucy2c
|
UTSW |
6 |
136,727,894 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9188:Gucy2c
|
UTSW |
6 |
136,723,758 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9189:Gucy2c
|
UTSW |
6 |
136,751,047 (GRCm38) |
missense |
probably benign |
|
|
R9325:Gucy2c
|
UTSW |
6 |
136,766,994 (GRCm38) |
nonsense |
probably null |
|
|
R9361:Gucy2c
|
UTSW |
6 |
136,737,431 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9413:Gucy2c
|
UTSW |
6 |
136,723,773 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
Z1088:Gucy2c
|
UTSW |
6 |
136,743,981 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Gucy2c
|
UTSW |
6 |
136,767,196 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Gucy2c
|
UTSW |
6 |
136,719,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCACAGGCTCAAGTCTAGCCC -3'
(R):5'- TGGCATTTTGTGACCTGGACCTC -3'
Sequencing Primer
(F):5'- TCAAGTCTAGCCCTGTGAGG -3'
(R):5'- AAGCCCAGAGCTTGTAGTCATTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation