Incidental Mutation 'R5366:Gucy2c'
ID |
429336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2c
|
Ensembl Gene |
ENSMUSG00000042638 |
Gene Name |
guanylate cyclase 2c |
Synonyms |
GC-C |
MMRRC Submission |
042944-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136697739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 668
(I668T)
|
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: I668T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032338 Gene: ENSMUSG00000042638 AA Change: I668T
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 damaging
Transcript: ENSMUST00000078095
AA Change: I644T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000077236 Gene: ENSMUSG00000042638 AA Change: I644T
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 |
0.5969 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (77/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,831,665 (GRCm39) |
N1229S |
possibly damaging |
Het |
Adgre1 |
G |
A |
17: 57,709,817 (GRCm39) |
C158Y |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,994,099 (GRCm39) |
S5128T |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,542,841 (GRCm39) |
C322* |
probably null |
Het |
Ano1 |
T |
A |
7: 144,207,946 (GRCm39) |
T113S |
possibly damaging |
Het |
Apeh |
A |
T |
9: 107,969,005 (GRCm39) |
S321T |
probably benign |
Het |
Atg4d |
T |
A |
9: 21,179,948 (GRCm39) |
V273D |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,251,279 (GRCm39) |
D489G |
probably damaging |
Het |
Cd47 |
T |
C |
16: 49,716,736 (GRCm39) |
F256L |
probably damaging |
Het |
Cd84 |
A |
T |
1: 171,700,872 (GRCm39) |
D211V |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,230,802 (GRCm39) |
L942P |
probably damaging |
Het |
Cfh |
A |
C |
1: 140,063,973 (GRCm39) |
C434W |
probably damaging |
Het |
Chst2 |
T |
C |
9: 95,287,518 (GRCm39) |
D276G |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Degs1 |
C |
A |
1: 182,106,927 (GRCm39) |
D111Y |
probably benign |
Het |
Dhps |
T |
A |
8: 85,801,413 (GRCm39) |
D313E |
probably damaging |
Het |
Dipk1c |
T |
A |
18: 84,748,720 (GRCm39) |
L106Q |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,815,615 (GRCm39) |
C1645R |
probably damaging |
Het |
Efcab7 |
A |
C |
4: 99,761,931 (GRCm39) |
D407A |
possibly damaging |
Het |
Eif3a |
G |
T |
19: 60,767,971 (GRCm39) |
T189N |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,500,301 (GRCm39) |
L57M |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,867,513 (GRCm39) |
I300L |
probably benign |
Het |
Fzd8 |
T |
C |
18: 9,213,880 (GRCm39) |
S321P |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,941,713 (GRCm39) |
M657K |
possibly damaging |
Het |
Gm9920 |
T |
A |
15: 54,975,705 (GRCm39) |
|
probably benign |
Het |
Irgc |
C |
T |
7: 24,132,851 (GRCm39) |
|
probably benign |
Het |
Jsrp1 |
G |
T |
10: 80,646,030 (GRCm39) |
S143* |
probably null |
Het |
Kctd4 |
T |
C |
14: 76,200,259 (GRCm39) |
Y77H |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,329,924 (GRCm39) |
I351N |
probably damaging |
Het |
Klra17 |
C |
T |
6: 129,851,858 (GRCm39) |
E5K |
possibly damaging |
Het |
Mapk8 |
A |
T |
14: 33,112,686 (GRCm39) |
V211E |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,326,725 (GRCm39) |
Y1208H |
probably benign |
Het |
Mrps16 |
A |
T |
14: 20,441,523 (GRCm39) |
S94T |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,361,287 (GRCm39) |
T1533A |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,651,518 (GRCm39) |
D287V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,971,086 (GRCm39) |
T2476A |
probably damaging |
Het |
Olfm2 |
T |
A |
9: 20,579,708 (GRCm39) |
T356S |
probably benign |
Het |
Or4f60 |
T |
C |
2: 111,902,823 (GRCm39) |
Y35C |
possibly damaging |
Het |
P2rx2 |
T |
A |
5: 110,489,694 (GRCm39) |
N108I |
probably damaging |
Het |
Pbx4 |
A |
T |
8: 70,322,820 (GRCm39) |
T309S |
probably benign |
Het |
Phyhip |
C |
A |
14: 70,704,295 (GRCm39) |
H171Q |
probably benign |
Het |
Pou4f3 |
A |
G |
18: 42,528,819 (GRCm39) |
E254G |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,052,899 (GRCm39) |
H845Q |
probably damaging |
Het |
Rgcc |
T |
C |
14: 79,529,123 (GRCm39) |
T111A |
probably benign |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
C |
A |
5: 113,398,905 (GRCm39) |
E722D |
possibly damaging |
Het |
Soat1 |
A |
T |
1: 156,272,181 (GRCm39) |
D101E |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,211,152 (GRCm39) |
|
probably null |
Het |
Spata31 |
A |
T |
13: 65,068,273 (GRCm39) |
E140D |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,678 (GRCm39) |
S1537T |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
G |
T |
14: 101,845,412 (GRCm39) |
T162K |
possibly damaging |
Het |
Tmem163 |
A |
C |
1: 127,428,042 (GRCm39) |
|
probably benign |
Het |
Tmem43 |
T |
C |
6: 91,455,240 (GRCm39) |
V72A |
probably benign |
Het |
Tmprss11c |
G |
A |
5: 86,429,993 (GRCm39) |
T24I |
possibly damaging |
Het |
Trerf1 |
A |
T |
17: 47,626,116 (GRCm39) |
|
noncoding transcript |
Het |
Trim44 |
A |
G |
2: 102,230,476 (GRCm39) |
L185P |
probably damaging |
Het |
Tspyl1 |
A |
G |
10: 34,158,341 (GRCm39) |
D22G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tyro3 |
G |
A |
2: 119,635,312 (GRCm39) |
R201Q |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,930,741 (GRCm39) |
K206N |
probably benign |
Het |
Usp17lb |
G |
T |
7: 104,489,615 (GRCm39) |
H436Q |
possibly damaging |
Het |
Vps9d1 |
A |
G |
8: 123,971,853 (GRCm39) |
I584T |
possibly damaging |
Het |
Vrk1 |
T |
A |
12: 106,022,078 (GRCm39) |
M131K |
possibly damaging |
Het |
Wdr87-ps |
A |
C |
7: 29,232,964 (GRCm39) |
|
noncoding transcript |
Het |
Zfp827 |
A |
T |
8: 79,912,333 (GRCm39) |
K986N |
possibly damaging |
Het |
Zswim4 |
A |
G |
8: 84,939,419 (GRCm39) |
M821T |
probably benign |
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 |
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 |
|
R7924:Gucy2c
|
UTSW |
6 |
136,740,053 (GRCm39) |
missense |
probably benign |
0.35 |
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'- CCTTTGCAGTCCTCCTAGAGTG -3'
(R):5'- TCCTTAACCCTGTTCAGCAG -3'
Sequencing Primer
(F):5'- TGCACAACTCAGAAGAGGCCTG -3'
(R):5'- TGTTGCTATCTCACGCAC -3'
|
Posted On |
2016-09-06 |