Incidental Mutation 'R1751:Gucy2c'
| ID |
193514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
039783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 136725773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032338
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
| 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
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (85/86) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,972,948 (GRCm39) |
I685F |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,091,077 (GRCm39) |
N480K |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,551,260 (GRCm39) |
Q778R |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,594,472 (GRCm39) |
I1189N |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,734,517 (GRCm39) |
G713D |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,940,375 (GRCm39) |
R203S |
probably benign |
Het |
| Bank1 |
A |
G |
3: 135,960,698 (GRCm39) |
V53A |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,350,628 (GRCm39) |
S406G |
probably benign |
Het |
| Ccdc198 |
G |
A |
14: 49,473,341 (GRCm39) |
T128I |
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,121,522 (GRCm39) |
|
probably null |
Het |
| Cdc5l |
A |
T |
17: 45,718,731 (GRCm39) |
D628E |
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,244,727 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,408,958 (GRCm39) |
W860R |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,595,371 (GRCm39) |
|
probably null |
Het |
| Coq10b |
A |
G |
1: 55,100,513 (GRCm39) |
R66G |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,078,485 (GRCm39) |
Y405* |
probably null |
Het |
| Cyp2b9 |
T |
C |
7: 25,886,100 (GRCm39) |
V89A |
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Ephx1 |
C |
T |
1: 180,822,242 (GRCm39) |
G101S |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,187,220 (GRCm39) |
Y224F |
possibly damaging |
Het |
| Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
| Gart |
A |
C |
16: 91,439,837 (GRCm39) |
|
probably benign |
Het |
| Gm11116 |
T |
C |
5: 88,259,311 (GRCm39) |
|
probably benign |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gnas |
T |
A |
2: 174,139,687 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,773,439 (GRCm39) |
|
probably benign |
Het |
| Grin3a |
A |
T |
4: 49,844,423 (GRCm39) |
V220E |
probably damaging |
Het |
| Gstt2 |
T |
C |
10: 75,670,098 (GRCm39) |
D8G |
probably damaging |
Het |
| Igf2r |
A |
C |
17: 12,916,328 (GRCm39) |
S1677A |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,469 (GRCm39) |
L1274P |
probably benign |
Het |
| Krt13 |
A |
C |
11: 100,011,926 (GRCm39) |
H132Q |
possibly damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,441,531 (GRCm39) |
L1145S |
probably damaging |
Het |
| Lrrn4cl |
A |
G |
19: 8,829,135 (GRCm39) |
T38A |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,776,399 (GRCm39) |
T112A |
probably benign |
Het |
| Meltf |
G |
T |
16: 31,702,747 (GRCm39) |
C158F |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,485,841 (GRCm39) |
H1040Q |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,820,884 (GRCm39) |
T914S |
probably benign |
Het |
| Npas4 |
G |
A |
19: 5,038,211 (GRCm39) |
P199L |
probably benign |
Het |
| Or12d17 |
A |
T |
17: 37,777,792 (GRCm39) |
M232L |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,338,612 (GRCm39) |
H923L |
probably damaging |
Het |
| Pcp4 |
A |
C |
16: 96,326,689 (GRCm39) |
Q290P |
probably damaging |
Het |
| Pdlim1 |
C |
T |
19: 40,240,348 (GRCm39) |
|
probably benign |
Het |
| Pias3 |
T |
C |
3: 96,608,719 (GRCm39) |
S228P |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,580,917 (GRCm39) |
V154A |
probably benign |
Het |
| Pik3c2a |
A |
C |
7: 115,945,471 (GRCm39) |
V1445G |
probably damaging |
Het |
| Plod3 |
T |
A |
5: 137,019,030 (GRCm39) |
V305E |
possibly damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,685,677 (GRCm39) |
|
probably benign |
Het |
| Prkra |
G |
T |
2: 76,477,584 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Retnlg |
A |
T |
16: 48,693,991 (GRCm39) |
D49V |
possibly damaging |
Het |
| Rfx2 |
A |
G |
17: 57,091,754 (GRCm39) |
V313A |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,124 (GRCm39) |
E163G |
probably damaging |
Het |
| Sbpl |
A |
G |
17: 24,173,777 (GRCm39) |
|
probably null |
Het |
| Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,900,613 (GRCm39) |
D1018G |
probably damaging |
Het |
| Slc38a11 |
T |
A |
2: 65,180,452 (GRCm39) |
I182F |
probably benign |
Het |
| Slc6a20a |
T |
A |
9: 123,466,165 (GRCm39) |
I522F |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,617,780 (GRCm39) |
|
probably benign |
Het |
| Ssbp3 |
G |
T |
4: 106,904,612 (GRCm39) |
D336Y |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,445 (GRCm39) |
T943A |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,609,758 (GRCm39) |
S694P |
probably benign |
Het |
| Tdp1 |
G |
A |
12: 99,857,602 (GRCm39) |
|
probably null |
Het |
| Tfap2a |
A |
T |
13: 40,878,613 (GRCm39) |
I204N |
probably damaging |
Het |
| Tfip11 |
T |
A |
5: 112,482,298 (GRCm39) |
W519R |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,333,373 (GRCm39) |
E831G |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tmem39b |
A |
C |
4: 129,586,976 (GRCm39) |
I78M |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,547 (GRCm39) |
V2428A |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,541,617 (GRCm39) |
E247G |
probably damaging |
Het |
| Trpc7 |
T |
A |
13: 56,923,956 (GRCm39) |
D743V |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,751,385 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,566,038 (GRCm39) |
I485V |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,542 (GRCm39) |
S674P |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,228,618 (GRCm39) |
D201E |
probably damaging |
Het |
| Tsr3 |
T |
C |
17: 25,461,613 (GRCm39) |
I317T |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Vmn1r192 |
A |
G |
13: 22,371,441 (GRCm39) |
S260P |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,786 (GRCm39) |
V806E |
probably damaging |
Het |
| Wnt10b |
A |
T |
15: 98,670,556 (GRCm39) |
L228Q |
probably damaging |
Het |
| Zfp108 |
C |
A |
7: 23,961,321 (GRCm39) |
H637Q |
probably 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 |
|
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 |
|
|
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'- AGGAAAGGCTTGCCATCAGCTTG -3'
(R):5'- AGGTTCCACGCCTAAAGCCATTG -3'
Sequencing Primer
(F):5'- TGCTAACACGCTTAGGGAATC -3'
(R):5'- CAGTGGGGACATTGACAACA -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation