Incidental Mutation 'R7924:Gucy2c'
ID |
643195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2c
|
Ensembl Gene |
ENSMUSG00000042638 |
Gene Name |
guanylate cyclase 2c |
Synonyms |
GC-C |
MMRRC Submission |
045971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7924 (G1)
|
Quality Score |
999 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 136740053 bp (GRCm39)
|
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: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
99% (78/79) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
T |
A |
8: 125,390,051 (GRCm39) |
|
probably benign |
Het |
Acacb |
A |
G |
5: 114,383,281 (GRCm39) |
K2155E |
possibly damaging |
Het |
Adgre5 |
G |
A |
8: 84,456,029 (GRCm39) |
P256S |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,731 (GRCm39) |
V172D |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,317,230 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,622,641 (GRCm39) |
I404V |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,658,602 (GRCm39) |
R2204Q |
probably damaging |
Het |
Barhl2 |
A |
G |
5: 106,605,515 (GRCm39) |
S65P |
unknown |
Het |
Bbx |
A |
T |
16: 50,044,671 (GRCm39) |
L630H |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,608 (GRCm39) |
T531A |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,486,824 (GRCm39) |
H450Q |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,296,091 (GRCm39) |
L135P |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,592,923 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
T |
A |
4: 34,728,833 (GRCm39) |
H24L |
probably benign |
Het |
Cilk1 |
T |
C |
9: 78,062,746 (GRCm39) |
L260P |
probably damaging |
Het |
Cnga4 |
T |
A |
7: 105,057,028 (GRCm39) |
V480E |
probably benign |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,038,570 (GRCm39) |
R1003G |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,258,590 (GRCm39) |
D1927G |
probably benign |
Het |
Dscc1 |
A |
T |
15: 54,945,572 (GRCm39) |
D374E |
probably benign |
Het |
Eci2 |
G |
A |
13: 35,177,053 (GRCm39) |
Q69* |
probably null |
Het |
Ep300 |
C |
A |
15: 81,533,703 (GRCm39) |
P1920Q |
unknown |
Het |
Epha5 |
A |
G |
5: 84,232,705 (GRCm39) |
Y629H |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,153,613 (GRCm39) |
T3533I |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,910,593 (GRCm39) |
N1803S |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,840 (GRCm39) |
Y51C |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gcnt2 |
A |
T |
13: 41,072,040 (GRCm39) |
K228* |
probably null |
Het |
Hecw1 |
C |
A |
13: 14,497,113 (GRCm39) |
L298F |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,145,103 (GRCm39) |
V818G |
possibly damaging |
Het |
Hykk |
A |
G |
9: 54,829,524 (GRCm39) |
Y131C |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,685,666 (GRCm39) |
D48G |
probably damaging |
Het |
Mrps10 |
T |
C |
17: 47,689,208 (GRCm39) |
*202Q |
probably null |
Het |
Mrps14 |
T |
C |
1: 160,024,559 (GRCm39) |
V30A |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Muc2 |
G |
T |
7: 141,281,631 (GRCm39) |
G497W |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,523,181 (GRCm39) |
V237D |
probably damaging |
Het |
Nox4 |
G |
T |
7: 87,023,589 (GRCm39) |
V492L |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Or5ak23 |
T |
C |
2: 85,244,563 (GRCm39) |
Y220C |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,938 (GRCm39) |
I256T |
probably damaging |
Het |
Pard3 |
A |
G |
8: 128,137,231 (GRCm39) |
N861S |
probably benign |
Het |
Pdlim4 |
G |
A |
11: 53,946,048 (GRCm39) |
R230* |
probably null |
Het |
Pinlyp |
C |
T |
7: 24,241,550 (GRCm39) |
V159M |
possibly damaging |
Het |
Pla2g4d |
T |
C |
2: 120,119,645 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,201,613 (GRCm39) |
T855S |
probably benign |
Het |
Pot1a |
T |
A |
6: 25,753,309 (GRCm39) |
D409V |
possibly damaging |
Het |
Prom1 |
T |
C |
5: 44,187,111 (GRCm39) |
D382G |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,192,834 (GRCm39) |
N83K |
probably damaging |
Het |
Ptprn2 |
A |
G |
12: 116,804,884 (GRCm39) |
D133G |
probably benign |
Het |
Rasef |
C |
T |
4: 73,659,166 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
G |
5: 143,160,241 (GRCm39) |
S271P |
probably damaging |
Het |
Rbm20 |
A |
T |
19: 53,666,016 (GRCm39) |
I60F |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rsf1 |
G |
GACGGCCGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpinb3c |
A |
G |
1: 107,200,904 (GRCm39) |
L171P |
probably damaging |
Het |
Slc25a19 |
T |
C |
11: 115,506,376 (GRCm39) |
Y211C |
unknown |
Het |
Sorbs2 |
C |
T |
8: 46,248,507 (GRCm39) |
S586L |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,180,733 (GRCm39) |
S58R |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,026,762 (GRCm39) |
I329T |
probably benign |
Het |
St8sia2 |
G |
A |
7: 73,616,700 (GRCm39) |
L113F |
probably damaging |
Het |
Star |
T |
C |
8: 26,299,883 (GRCm39) |
I75T |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,644,331 (GRCm39) |
F129Y |
possibly damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,697 (GRCm39) |
I784F |
possibly damaging |
Het |
Tex55 |
G |
A |
16: 38,632,826 (GRCm39) |
Q369* |
probably null |
Het |
Tsc22d4 |
A |
G |
5: 137,766,273 (GRCm39) |
I144V |
unknown |
Het |
Tspan8 |
T |
C |
10: 115,669,229 (GRCm39) |
|
probably null |
Het |
Ttll9 |
C |
T |
2: 152,804,407 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,194 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,194,587 (GRCm39) |
L1160R |
unknown |
Het |
Ufd1 |
A |
G |
16: 18,642,035 (GRCm39) |
Y162C |
possibly damaging |
Het |
Unc13c |
A |
T |
9: 73,641,690 (GRCm39) |
F1268I |
probably benign |
Het |
Uvssa |
T |
C |
5: 33,568,295 (GRCm39) |
I561T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,254 (GRCm39) |
S817T |
probably damaging |
Het |
Ybx1 |
T |
C |
4: 119,139,476 (GRCm39) |
E173G |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,400 (GRCm39) |
S640P |
possibly damaging |
Het |
|
Other mutations in Gucy2c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00849:Gucy2c
|
APN |
6 |
136,742,612 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01081:Gucy2c
|
APN |
6 |
136,679,737 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01285:Gucy2c
|
APN |
6 |
136,686,739 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01395:Gucy2c
|
APN |
6 |
136,675,027 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01408:Gucy2c
|
APN |
6 |
136,675,009 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01752:Gucy2c
|
APN |
6 |
136,747,106 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01766:Gucy2c
|
APN |
6 |
136,692,971 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02245:Gucy2c
|
APN |
6 |
136,706,201 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02648:Gucy2c
|
APN |
6 |
136,706,211 (GRCm39) |
nonsense |
probably null |
|
IGL02794:Gucy2c
|
APN |
6 |
136,690,146 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03023:Gucy2c
|
APN |
6 |
136,679,794 (GRCm39) |
splice site |
probably null |
|
IGL03178:Gucy2c
|
APN |
6 |
136,706,237 (GRCm39) |
splice site |
probably benign |
|
IGL03310:Gucy2c
|
APN |
6 |
136,728,044 (GRCm39) |
missense |
probably benign |
|
IGL03374:Gucy2c
|
APN |
6 |
136,742,628 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03393:Gucy2c
|
APN |
6 |
136,696,665 (GRCm39) |
missense |
probably benign |
0.04 |
BB001:Gucy2c
|
UTSW |
6 |
136,740,053 (GRCm39) |
missense |
probably benign |
0.35 |
BB011:Gucy2c
|
UTSW |
6 |
136,740,053 (GRCm39) |
missense |
probably benign |
0.35 |
R0031:Gucy2c
|
UTSW |
6 |
136,674,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R0128:Gucy2c
|
UTSW |
6 |
136,681,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Gucy2c
|
UTSW |
6 |
136,727,915 (GRCm39) |
critical splice donor site |
probably null |
|
R0593:Gucy2c
|
UTSW |
6 |
136,705,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R0613:Gucy2c
|
UTSW |
6 |
136,737,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R0723:Gucy2c
|
UTSW |
6 |
136,704,799 (GRCm39) |
splice site |
probably null |
|
R0828:Gucy2c
|
UTSW |
6 |
136,686,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0837:Gucy2c
|
UTSW |
6 |
136,699,418 (GRCm39) |
missense |
probably damaging |
0.99 |
R0880:Gucy2c
|
UTSW |
6 |
136,686,830 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1350:Gucy2c
|
UTSW |
6 |
136,720,912 (GRCm39) |
critical splice donor site |
probably null |
|
R1487:Gucy2c
|
UTSW |
6 |
136,725,824 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1680:Gucy2c
|
UTSW |
6 |
136,699,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Gucy2c
|
UTSW |
6 |
136,725,773 (GRCm39) |
splice site |
probably benign |
|
R1791:Gucy2c
|
UTSW |
6 |
136,721,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Gucy2c
|
UTSW |
6 |
136,681,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2135:Gucy2c
|
UTSW |
6 |
136,700,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R2227:Gucy2c
|
UTSW |
6 |
136,679,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R2350:Gucy2c
|
UTSW |
6 |
136,740,072 (GRCm39) |
missense |
probably damaging |
0.98 |
R2906:Gucy2c
|
UTSW |
6 |
136,685,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R2907:Gucy2c
|
UTSW |
6 |
136,685,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R3699:Gucy2c
|
UTSW |
6 |
136,747,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R3972:Gucy2c
|
UTSW |
6 |
136,685,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Gucy2c
|
UTSW |
6 |
136,685,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Gucy2c
|
UTSW |
6 |
136,744,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Gucy2c
|
UTSW |
6 |
136,744,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R4776:Gucy2c
|
UTSW |
6 |
136,699,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R5087:Gucy2c
|
UTSW |
6 |
136,744,033 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5284:Gucy2c
|
UTSW |
6 |
136,740,041 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5366:Gucy2c
|
UTSW |
6 |
136,697,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R5466:Gucy2c
|
UTSW |
6 |
136,758,463 (GRCm39) |
nonsense |
probably null |
|
R5911:Gucy2c
|
UTSW |
6 |
136,699,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R6160:Gucy2c
|
UTSW |
6 |
136,717,684 (GRCm39) |
nonsense |
probably null |
|
R6367:Gucy2c
|
UTSW |
6 |
136,686,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6441:Gucy2c
|
UTSW |
6 |
136,700,759 (GRCm39) |
missense |
probably damaging |
0.98 |
R6812:Gucy2c
|
UTSW |
6 |
136,674,993 (GRCm39) |
missense |
probably benign |
|
R6865:Gucy2c
|
UTSW |
6 |
136,747,127 (GRCm39) |
missense |
probably benign |
0.13 |
R7065:Gucy2c
|
UTSW |
6 |
136,697,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7078:Gucy2c
|
UTSW |
6 |
136,674,937 (GRCm39) |
missense |
probably benign |
0.19 |
R7096:Gucy2c
|
UTSW |
6 |
136,705,339 (GRCm39) |
missense |
probably benign |
0.11 |
R7138:Gucy2c
|
UTSW |
6 |
136,705,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:Gucy2c
|
UTSW |
6 |
136,679,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R7538:Gucy2c
|
UTSW |
6 |
136,686,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R7587:Gucy2c
|
UTSW |
6 |
136,681,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R7666:Gucy2c
|
UTSW |
6 |
136,674,966 (GRCm39) |
missense |
probably benign |
|
R7675:Gucy2c
|
UTSW |
6 |
136,693,030 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7822:Gucy2c
|
UTSW |
6 |
136,685,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Gucy2c
|
UTSW |
6 |
136,746,814 (GRCm39) |
splice site |
probably null |
|
R8078:Gucy2c
|
UTSW |
6 |
136,674,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Gucy2c
|
UTSW |
6 |
136,714,446 (GRCm39) |
missense |
probably benign |
0.33 |
R8391:Gucy2c
|
UTSW |
6 |
136,681,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Gucy2c
|
UTSW |
6 |
136,704,892 (GRCm39) |
missense |
probably damaging |
0.96 |
R9188:Gucy2c
|
UTSW |
6 |
136,700,756 (GRCm39) |
missense |
probably benign |
0.44 |
R9189:Gucy2c
|
UTSW |
6 |
136,728,045 (GRCm39) |
missense |
probably benign |
|
R9325:Gucy2c
|
UTSW |
6 |
136,743,992 (GRCm39) |
nonsense |
probably null |
|
R9361:Gucy2c
|
UTSW |
6 |
136,714,429 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9413:Gucy2c
|
UTSW |
6 |
136,700,771 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Gucy2c
|
UTSW |
6 |
136,720,979 (GRCm39) |
missense |
probably benign |
|
Z1177:Gucy2c
|
UTSW |
6 |
136,744,194 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Gucy2c
|
UTSW |
6 |
136,696,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAAATGCGGCCATCATGG -3'
(R):5'- AGCTTTGGGGACTTGAGATTAATC -3'
Sequencing Primer
(F):5'- GCGGCTGCCCACACAAG -3'
(R):5'- GCCATCCTGGACTATGTAGTAAC -3'
|
Posted On |
2020-08-07 |