Incidental Mutation 'IGL02794:Gucy2c'
| ID |
359884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02794
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136690146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 744
(Q744L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032338
AA Change: Q768L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: Q768L
| 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: Q744L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: Q744L
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,385 (GRCm39) |
C1082S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,328,806 (GRCm39) |
R176L |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,209 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,071,653 (GRCm39) |
M481V |
probably benign |
Het |
| Atraid |
G |
A |
5: 31,210,214 (GRCm39) |
S135N |
probably damaging |
Het |
| Camta2 |
C |
T |
11: 70,566,484 (GRCm39) |
G677D |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,319,614 (GRCm39) |
N545S |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,069 (GRCm39) |
D1105G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,623,957 (GRCm39) |
M4K |
unknown |
Het |
| Crnkl1 |
C |
T |
2: 145,772,532 (GRCm39) |
E182K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,847,847 (GRCm39) |
C114S |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,174,788 (GRCm39) |
Y496N |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,910 (GRCm39) |
V1528A |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,752 (GRCm39) |
T88M |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,041,928 (GRCm39) |
N767S |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,829 (GRCm39) |
T30A |
unknown |
Het |
| Gorasp2 |
C |
A |
2: 70,509,838 (GRCm39) |
Y166* |
probably null |
Het |
| Heg1 |
A |
T |
16: 33,546,992 (GRCm39) |
N593I |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,757,278 (GRCm39) |
S236C |
possibly damaging |
Het |
| Il12b |
T |
C |
11: 44,298,808 (GRCm39) |
Y88H |
probably damaging |
Het |
| Izumo3 |
C |
T |
4: 92,035,200 (GRCm39) |
V6I |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,715,515 (GRCm39) |
V458A |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,040,889 (GRCm39) |
R1659Q |
probably benign |
Het |
| Klk1b1 |
A |
G |
7: 43,619,789 (GRCm39) |
D116G |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,917,227 (GRCm39) |
T2233A |
possibly damaging |
Het |
| Lin9 |
A |
T |
1: 180,479,444 (GRCm39) |
K59N |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,838,709 (GRCm39) |
E1083G |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,776,770 (GRCm39) |
I1768N |
possibly damaging |
Het |
| Mical3 |
C |
A |
6: 120,984,270 (GRCm39) |
G202V |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,911 (GRCm39) |
I1719F |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,867 (GRCm39) |
F120Y |
possibly damaging |
Het |
| Or52e8 |
T |
A |
7: 104,624,596 (GRCm39) |
M203L |
probably benign |
Het |
| Or8b56 |
T |
A |
9: 38,739,511 (GRCm39) |
C175S |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,492 (GRCm39) |
T256A |
possibly damaging |
Het |
| Pidd1 |
T |
C |
7: 141,023,021 (GRCm39) |
Y57C |
probably benign |
Het |
| Pik3cd |
T |
A |
4: 149,739,028 (GRCm39) |
M671L |
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,740,885 (GRCm39) |
V361A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,096,725 (GRCm39) |
V743A |
probably benign |
Het |
| Siglec1 |
C |
A |
2: 130,917,889 (GRCm39) |
S996I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,957,206 (GRCm39) |
R948G |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,668 (GRCm39) |
Y537* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,584,638 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,944,760 (GRCm39) |
P1109S |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,975,070 (GRCm39) |
N513Y |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,603,704 (GRCm39) |
C17R |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,268,785 (GRCm39) |
C1956R |
probably damaging |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,379 (GRCm39) |
T96N |
possibly damaging |
Het |
| Vmn1r211 |
C |
A |
13: 23,036,376 (GRCm39) |
S97I |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,377 (GRCm39) |
S97C |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,623 (GRCm39) |
S596T |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,611,602 (GRCm39) |
S454P |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation