Incidental Mutation 'BB011:Gucy2c'
| ID |
642630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
BB011
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136697284-136781765 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136763055 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 258
(V258E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032338
AA Change: V258E
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: V258E
| 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: V258E
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: V258E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,245,220 (GRCm38) |
K2155E |
possibly damaging |
Het |
| Adgre5 |
G |
A |
8: 83,729,400 (GRCm38) |
P256S |
possibly damaging |
Het |
| Adipor1 |
T |
A |
1: 134,425,993 (GRCm38) |
V172D |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,270,456 (GRCm38) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 122,895,902 (GRCm38) |
I404V |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,525,545 (GRCm38) |
R2204Q |
probably damaging |
Het |
| Barhl2 |
A |
G |
5: 106,457,649 (GRCm38) |
S65P |
unknown |
Het |
| Bbx |
A |
T |
16: 50,224,308 (GRCm38) |
L630H |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,569,871 (GRCm38) |
T531A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,520,565 (GRCm38) |
H450Q |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 122,569,352 (GRCm38) |
L135P |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,728,833 (GRCm38) |
H24L |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,155,464 (GRCm38) |
L260P |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,407,821 (GRCm38) |
V480E |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 95,745,647 (GRCm38) |
|
probably null |
Het |
| Ctcfl |
G |
A |
2: 173,113,656 (GRCm38) |
T271I |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 36,571,416 (GRCm38) |
R1003G |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,219,430 (GRCm38) |
D1927G |
probably benign |
Het |
| Dscc1 |
A |
T |
15: 55,082,176 (GRCm38) |
D374E |
probably benign |
Het |
| Eci2 |
G |
A |
13: 34,993,070 (GRCm38) |
Q69* |
probably null |
Het |
| Ep300 |
C |
A |
15: 81,649,502 (GRCm38) |
P1920Q |
unknown |
Het |
| Epha5 |
A |
G |
5: 84,084,846 (GRCm38) |
Y629H |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,262,787 (GRCm38) |
T3533I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,999,297 (GRCm38) |
N1803S |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,259,533 (GRCm38) |
Y51C |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,577,214 (GRCm38) |
D113E |
unknown |
Het |
| Gcnt2 |
A |
T |
13: 40,918,564 (GRCm38) |
K228* |
probably null |
Het |
| Hecw1 |
C |
A |
13: 14,322,528 (GRCm38) |
L298F |
probably damaging |
Het |
| Hydin |
T |
G |
8: 110,418,471 (GRCm38) |
V818G |
possibly damaging |
Het |
| Hykk |
A |
G |
9: 54,922,240 (GRCm38) |
Y131C |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,794,840 (GRCm38) |
D48G |
probably damaging |
Het |
| Mrps10 |
T |
C |
17: 47,378,283 (GRCm38) |
*202Q |
probably null |
Het |
| Mrps14 |
T |
C |
1: 160,196,989 (GRCm38) |
V30A |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 40,606,884 (GRCm38) |
A62V |
possibly damaging |
Het |
| Muc2 |
G |
T |
7: 141,695,388 (GRCm38) |
G497W |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,386,645 (GRCm38) |
V237D |
probably damaging |
Het |
| Nox4 |
G |
T |
7: 87,374,381 (GRCm38) |
V492L |
probably benign |
Het |
| Obscn |
C |
G |
11: 59,112,555 (GRCm38) |
E1306Q |
probably benign |
Het |
| Or5ak23 |
T |
C |
2: 85,414,219 (GRCm38) |
Y220C |
probably benign |
Het |
| Or6aa1 |
A |
G |
7: 86,394,730 (GRCm38) |
I256T |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 127,410,750 (GRCm38) |
N861S |
probably benign |
Het |
| Pdlim4 |
G |
A |
11: 54,055,222 (GRCm38) |
R230* |
probably null |
Het |
| Pinlyp |
C |
T |
7: 24,542,125 (GRCm38) |
V159M |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,359,693 (GRCm38) |
T855S |
probably benign |
Het |
| Pot1a |
T |
A |
6: 25,753,310 (GRCm38) |
D409V |
possibly damaging |
Het |
| Prom1 |
T |
C |
5: 44,029,769 (GRCm38) |
D382G |
probably benign |
Het |
| Prss16 |
A |
T |
13: 22,008,664 (GRCm38) |
N83K |
probably damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,841,264 (GRCm38) |
D133G |
probably benign |
Het |
| Rasef |
C |
T |
4: 73,740,929 (GRCm38) |
|
probably null |
Het |
| Rbak |
A |
G |
5: 143,174,486 (GRCm38) |
S271P |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,677,585 (GRCm38) |
I60F |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,047,380 (GRCm38) |
A318D |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCCGCC |
7: 97,579,909 (GRCm38) |
|
probably benign |
Het |
| Serpinb3c |
A |
G |
1: 107,273,174 (GRCm38) |
L171P |
probably damaging |
Het |
| Slc25a19 |
T |
C |
11: 115,615,550 (GRCm38) |
Y211C |
unknown |
Het |
| Sorbs2 |
C |
T |
8: 45,795,470 (GRCm38) |
S586L |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,273,451 (GRCm38) |
S58R |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,118,327 (GRCm38) |
I329T |
probably benign |
Het |
| St8sia2 |
G |
A |
7: 73,966,952 (GRCm38) |
L113F |
probably damaging |
Het |
| Star |
T |
C |
8: 25,809,855 (GRCm38) |
I75T |
possibly damaging |
Het |
| Tasor2 |
A |
T |
13: 3,594,331 (GRCm38) |
F129Y |
possibly damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,627,806 (GRCm38) |
I784F |
possibly damaging |
Het |
| Tex55 |
G |
A |
16: 38,812,464 (GRCm38) |
Q369* |
probably null |
Het |
| Tsc22d4 |
A |
G |
5: 137,768,011 (GRCm38) |
I144V |
unknown |
Het |
| Tspan8 |
T |
C |
10: 115,833,324 (GRCm38) |
|
probably null |
Het |
| Ttll9 |
C |
T |
2: 152,962,487 (GRCm38) |
|
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,467,276 (GRCm38) |
L1160R |
unknown |
Het |
| Ufd1 |
A |
G |
16: 18,823,285 (GRCm38) |
Y162C |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,734,408 (GRCm38) |
F1268I |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,410,951 (GRCm38) |
I561T |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,286,388 (GRCm38) |
S817T |
probably damaging |
Het |
| Ybx1 |
T |
C |
4: 119,282,279 (GRCm38) |
E173G |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 129,015,480 (GRCm38) |
S640P |
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 |
|
R0031:Gucy2c
|
UTSW |
6 |
136,697,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0128:Gucy2c
|
UTSW |
6 |
136,704,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- TTCAAATGCGGCCATCATGG -3'
(R):5'- AGCTTTGGGGACTTGAGATTAATCC -3'
Sequencing Primer
(F):5'- GCGGCTGCCCACACAAG -3'
(R):5'- GCCATCCTGGACTATGTAGTAAC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation