Incidental Mutation 'R1487:Gucy2c'
| ID |
163519 |
| 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 # |
R1487 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136725824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 375
(I375F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032338
AA Change: I375F
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: I375F
| 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 |
possibly damaging
Transcript: ENSMUST00000078095
AA Change: I375F
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: I375F
| 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: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
C |
6: 146,854,877 (GRCm39) |
V55G |
probably benign |
Het |
| Abhd13 |
A |
G |
8: 10,037,402 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
T |
A |
10: 67,933,044 (GRCm39) |
K953* |
probably null |
Het |
| Armh3 |
A |
C |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
| B4galt6 |
A |
G |
18: 20,839,571 (GRCm39) |
V121A |
possibly damaging |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,955 (GRCm39) |
I208V |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,858,537 (GRCm39) |
N306S |
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,821,445 (GRCm39) |
N415K |
probably benign |
Het |
| Cfap57 |
C |
A |
4: 118,471,978 (GRCm39) |
V134F |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,583 (GRCm39) |
K67R |
probably benign |
Het |
| Clock |
T |
C |
5: 76,414,201 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
C |
T |
15: 8,215,715 (GRCm39) |
R424W |
probably damaging |
Het |
| Eif4g1 |
G |
A |
16: 20,497,623 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,941,531 (GRCm39) |
M601L |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,050,066 (GRCm39) |
E3976G |
possibly damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,854 (GRCm39) |
H258L |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,523,971 (GRCm39) |
T517K |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Gm17079 |
A |
T |
14: 51,930,542 (GRCm39) |
|
probably null |
Het |
| Hps4 |
C |
T |
5: 112,525,865 (GRCm39) |
Q629* |
probably null |
Het |
| Hunk |
A |
G |
16: 90,183,525 (GRCm39) |
Y61C |
probably damaging |
Het |
| Itga6 |
T |
C |
2: 71,673,584 (GRCm39) |
S873P |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,298 (GRCm39) |
H66R |
possibly damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,772 (GRCm39) |
|
probably null |
Het |
| Khdc3 |
A |
G |
9: 73,009,846 (GRCm39) |
T19A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,745,287 (GRCm39) |
|
probably benign |
Het |
| Lipe |
C |
T |
7: 25,084,240 (GRCm39) |
A615T |
possibly damaging |
Het |
| Lrguk |
A |
T |
6: 34,039,295 (GRCm39) |
M269L |
probably benign |
Het |
| Lrrc18 |
A |
G |
14: 32,730,640 (GRCm39) |
N60D |
probably damaging |
Het |
| Magi1 |
T |
C |
6: 93,685,060 (GRCm39) |
T773A |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,163 (GRCm39) |
D755V |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,034,213 (GRCm39) |
T488A |
probably damaging |
Het |
| Mmp10 |
T |
G |
9: 7,509,978 (GRCm39) |
W473G |
probably damaging |
Het |
| Mrgpra2a |
C |
T |
7: 47,076,434 (GRCm39) |
V275I |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,017 (GRCm39) |
|
probably null |
Het |
| Nadsyn1 |
C |
T |
7: 143,360,662 (GRCm39) |
V369I |
probably benign |
Het |
| Nptxr |
C |
A |
15: 79,674,104 (GRCm39) |
G424V |
probably damaging |
Het |
| Nrg2 |
C |
T |
18: 36,185,965 (GRCm39) |
G258E |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,019,558 (GRCm39) |
P221S |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,273,245 (GRCm39) |
Y282N |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,288,801 (GRCm39) |
H182L |
probably damaging |
Het |
| Or6c208 |
T |
C |
10: 129,224,209 (GRCm39) |
F236L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,177,057 (GRCm39) |
D477G |
possibly damaging |
Het |
| Pcdh8 |
G |
T |
14: 80,006,987 (GRCm39) |
D525E |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,609,387 (GRCm39) |
S740P |
probably damaging |
Het |
| Prss54 |
A |
G |
8: 96,286,276 (GRCm39) |
S266P |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,555,737 (GRCm39) |
I741F |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,644,240 (GRCm39) |
S515Y |
probably damaging |
Het |
| Recql4 |
T |
A |
15: 76,593,183 (GRCm39) |
N309I |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,622,713 (GRCm39) |
T388A |
possibly damaging |
Het |
| Setd6 |
T |
A |
8: 96,444,556 (GRCm39) |
L83H |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,716 (GRCm39) |
W534* |
probably null |
Het |
| St14 |
C |
T |
9: 31,008,476 (GRCm39) |
C488Y |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,414,065 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,814,460 (GRCm39) |
Y1968C |
probably damaging |
Het |
| Tcaim |
T |
A |
9: 122,647,897 (GRCm39) |
Y137* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpm3 |
A |
T |
3: 89,997,389 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,746,352 (GRCm39) |
N475K |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,815 (GRCm39) |
|
probably null |
Het |
| Zfp287 |
T |
C |
11: 62,616,115 (GRCm39) |
K192R |
probably damaging |
Het |
| Zfp799 |
G |
T |
17: 33,039,651 (GRCm39) |
T204N |
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 |
|
|
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'- GCTAACACGCTTAGGGAATCCTACC -3'
(R):5'- ACCGAAGCACACATTCTGCATGG -3'
Sequencing Primer
(F):5'- GCTTAGGGAATCCTACCACAAGTG -3'
(R):5'- GCCATTGATGGTCTCCAACA -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation