Incidental Mutation 'R0723:Gucy2c'
| ID |
63607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
038905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0723 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 136704799 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 null
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 null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acbd5 |
T |
G |
2: 22,959,608 (GRCm39) |
V54G |
probably damaging |
Het |
| Acin1 |
A |
T |
14: 54,902,908 (GRCm39) |
S255T |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,147,248 (GRCm39) |
L56P |
probably damaging |
Het |
| Akap6 |
G |
T |
12: 53,188,685 (GRCm39) |
C2033F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,237,506 (GRCm39) |
I777V |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,075,987 (GRCm39) |
V1349A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,733 (GRCm39) |
G444E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,760,164 (GRCm39) |
|
probably null |
Het |
| C2cd5 |
T |
C |
6: 142,987,281 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,287,697 (GRCm39) |
V1161A |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,169,703 (GRCm39) |
D268E |
probably benign |
Het |
| Ciao3 |
G |
A |
17: 26,000,795 (GRCm39) |
V406M |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,385,676 (GRCm39) |
S175T |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,320 (GRCm39) |
Y67* |
probably null |
Het |
| Copg2 |
T |
C |
6: 30,792,917 (GRCm39) |
I473V |
possibly damaging |
Het |
| Cstdc1 |
T |
C |
2: 148,625,282 (GRCm39) |
I72T |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,508,973 (GRCm39) |
V43I |
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Efemp2 |
T |
C |
19: 5,530,078 (GRCm39) |
S140P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,479,786 (GRCm39) |
T2944K |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,047,784 (GRCm39) |
D43E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,419,825 (GRCm39) |
A996T |
probably damaging |
Het |
| Fyb2 |
G |
A |
4: 104,873,063 (GRCm39) |
V784I |
probably benign |
Het |
| Gm6507 |
T |
A |
6: 89,162,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
C |
7: 83,405,374 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
A |
T |
15: 89,010,621 (GRCm39) |
L259Q |
probably damaging |
Het |
| Hoxd9 |
A |
T |
2: 74,529,172 (GRCm39) |
D258V |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,812,401 (GRCm39) |
T105A |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,783,595 (GRCm39) |
L271P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,524 (GRCm39) |
|
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,633,078 (GRCm39) |
M121K |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,876,566 (GRCm39) |
D129N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,361,999 (GRCm39) |
I648N |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,100,540 (GRCm39) |
R18H |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,247,473 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,369,803 (GRCm39) |
N854K |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,457,741 (GRCm39) |
I84T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,778,383 (GRCm39) |
S1380C |
probably benign |
Het |
| Myof |
A |
G |
19: 37,969,708 (GRCm39) |
V318A |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,897 (GRCm39) |
S28P |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,467,145 (GRCm39) |
Q570* |
probably null |
Het |
| Nhp2 |
C |
T |
11: 51,510,750 (GRCm39) |
Q36* |
probably null |
Het |
| Or1e17 |
T |
G |
11: 73,831,096 (GRCm39) |
V8G |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,965,457 (GRCm39) |
W129R |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,146,936 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 78,986,481 (GRCm39) |
E1018K |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,181,710 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,833,873 (GRCm39) |
V280I |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Spag5 |
C |
A |
11: 78,210,410 (GRCm39) |
|
probably benign |
Het |
| Spata31g1 |
T |
A |
4: 42,971,691 (GRCm39) |
N341K |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,644,617 (GRCm39) |
I961N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,173,045 (GRCm39) |
E1739G |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,502,337 (GRCm39) |
F50S |
possibly damaging |
Het |
| Tnfsf13b |
T |
G |
8: 10,057,166 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,616,679 (GRCm39) |
K16525E |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,259,629 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,711,582 (GRCm39) |
Y1437* |
probably null |
Het |
| Vwf |
C |
A |
6: 125,543,225 (GRCm39) |
D170E |
probably benign |
Het |
| Wdr95 |
C |
G |
5: 149,497,513 (GRCm39) |
I230M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,342,559 (GRCm39) |
S1600F |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,638 (GRCm39) |
K322E |
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 |
|
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 |
|
|
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'- ACCTTTGGCTTGCTTGCTATGACG -3'
(R):5'- CGCCTTTGCTCTATAAACAGCCTGG -3'
Sequencing Primer
(F):5'- tgttttatgtacaagcattttgcc -3'
(R):5'- ATAAACAGCCTGGTCTCCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation