Incidental Mutation 'R1680:Gucy2c'
| ID |
188412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
039716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136697284-136781765 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136722493 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 617
(S617P)
|
| 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: S617P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: S617P
| 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: S593P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: S593P
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
G |
10: 100,603,528 (GRCm38) |
P187R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 9,009,963 (GRCm38) |
H2870Q |
probably benign |
Het |
| Arhgef33 |
C |
T |
17: 80,347,651 (GRCm38) |
S95F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,278,954 (GRCm38) |
D827V |
probably damaging |
Het |
| Bcat1 |
T |
G |
6: 145,039,628 (GRCm38) |
D96A |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,548,746 (GRCm38) |
I184L |
probably benign |
Het |
| Ccdc129 |
C |
T |
6: 55,968,766 (GRCm38) |
T824I |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,837,824 (GRCm38) |
L415M |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,643,726 (GRCm38) |
V617A |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,799,361 (GRCm38) |
A1050V |
unknown |
Het |
| Col5a3 |
C |
T |
9: 20,784,668 (GRCm38) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,741,170 (GRCm38) |
T1059I |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,805,639 (GRCm38) |
R503Q |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 162,010,976 (GRCm38) |
V272A |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,873,361 (GRCm38) |
Q187R |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,190,103 (GRCm38) |
Y710H |
probably benign |
Het |
| Eef1a2 |
A |
T |
2: 181,152,941 (GRCm38) |
M155K |
possibly damaging |
Het |
| Entpd8 |
G |
A |
2: 25,084,024 (GRCm38) |
C331Y |
probably damaging |
Het |
| Erc1 |
A |
C |
6: 119,575,761 (GRCm38) |
L1072R |
probably damaging |
Het |
| Fam160b2 |
T |
C |
14: 70,586,851 (GRCm38) |
Y482C |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,173,868 (GRCm38) |
S155P |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,605,448 (GRCm38) |
R840G |
probably benign |
Het |
| Il1rl2 |
T |
C |
1: 40,351,793 (GRCm38) |
Y299H |
possibly damaging |
Het |
| Ints7 |
T |
G |
1: 191,621,162 (GRCm38) |
|
probably null |
Het |
| Ireb2 |
C |
T |
9: 54,881,518 (GRCm38) |
T92I |
probably damaging |
Het |
| Kcnj8 |
A |
T |
6: 142,570,189 (GRCm38) |
L64* |
probably null |
Het |
| Mapk8ip3 |
A |
G |
17: 24,901,011 (GRCm38) |
V983A |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,801,636 (GRCm38) |
D985G |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,959,643 (GRCm38) |
S1307R |
probably benign |
Het |
| Ncaph2 |
A |
G |
15: 89,364,622 (GRCm38) |
D222G |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,550,998 (GRCm38) |
S295* |
probably null |
Het |
| Nlrp12 |
T |
A |
7: 3,241,174 (GRCm38) |
D236V |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,906,802 (GRCm38) |
V74A |
probably benign |
Het |
| Oasl1 |
A |
G |
5: 114,935,944 (GRCm38) |
D304G |
probably damaging |
Het |
| Olfr1098 |
C |
T |
2: 86,923,161 (GRCm38) |
V124I |
probably benign |
Het |
| Olfr556 |
A |
G |
7: 102,670,733 (GRCm38) |
D271G |
possibly damaging |
Het |
| Olfr834 |
A |
G |
9: 18,988,516 (GRCm38) |
H176R |
possibly damaging |
Het |
| Olfr936 |
T |
C |
9: 39,047,000 (GRCm38) |
I140V |
probably benign |
Het |
| Patz1 |
A |
G |
11: 3,307,812 (GRCm38) |
K604E |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 66,035,250 (GRCm38) |
V793E |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,277,750 (GRCm38) |
|
probably null |
Het |
| Plxnc1 |
A |
C |
10: 94,841,551 (GRCm38) |
L938R |
probably benign |
Het |
| Pou4f2 |
G |
T |
8: 78,434,831 (GRCm38) |
A381D |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,899,223 (GRCm38) |
L685P |
possibly damaging |
Het |
| Pxn |
T |
A |
5: 115,552,147 (GRCm38) |
V383E |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,174,783 (GRCm38) |
L632P |
probably damaging |
Het |
| Rnf135 |
T |
A |
11: 80,196,881 (GRCm38) |
S219T |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,791,436 (GRCm38) |
D2039G |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Slc5a6 |
A |
G |
5: 31,042,644 (GRCm38) |
Y131H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,418,080 (GRCm38) |
I492T |
probably damaging |
Het |
| Soga3 |
A |
T |
10: 29,196,839 (GRCm38) |
Q709L |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,320,616 (GRCm38) |
K993E |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,159,371 (GRCm38) |
I75L |
possibly damaging |
Het |
| Syngap1 |
T |
C |
17: 26,952,579 (GRCm38) |
S46P |
possibly damaging |
Het |
| Tfcp2l1 |
T |
A |
1: 118,675,605 (GRCm38) |
F458I |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,087,840 (GRCm38) |
V102A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 57,121,961 (GRCm38) |
S34P |
unknown |
Het |
| Txlnb |
G |
T |
10: 17,843,233 (GRCm38) |
G604V |
probably benign |
Het |
| Ube2q1 |
A |
G |
3: 89,776,176 (GRCm38) |
T143A |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,503,669 (GRCm38) |
R361* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,703,547 (GRCm38) |
D1098G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,835,381 (GRCm38) |
T116S |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,454,423 (GRCm38) |
R6K |
probably benign |
Het |
| Zan |
T |
A |
5: 137,403,050 (GRCm38) |
T4136S |
unknown |
Het |
| Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
| Zfp606 |
A |
T |
7: 12,493,971 (GRCm38) |
H615L |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,582,880 (GRCm38) |
N433K |
probably benign |
Het |
|
| Other mutations in Gucy2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Gucy2c
|
APN |
6 |
136,765,614 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01081:Gucy2c
|
APN |
6 |
136,702,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01285:Gucy2c
|
APN |
6 |
136,709,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01395:Gucy2c
|
APN |
6 |
136,698,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01408:Gucy2c
|
APN |
6 |
136,698,011 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01752:Gucy2c
|
APN |
6 |
136,770,108 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL01766:Gucy2c
|
APN |
6 |
136,715,973 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02245:Gucy2c
|
APN |
6 |
136,729,203 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02648:Gucy2c
|
APN |
6 |
136,729,213 (GRCm38) |
nonsense |
probably null |
|
|
IGL02794:Gucy2c
|
APN |
6 |
136,713,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03023:Gucy2c
|
APN |
6 |
136,702,796 (GRCm38) |
splice site |
probably null |
|
|
IGL03178:Gucy2c
|
APN |
6 |
136,729,239 (GRCm38) |
splice site |
probably benign |
|
|
IGL03310:Gucy2c
|
APN |
6 |
136,751,046 (GRCm38) |
missense |
probably benign |
|
|
IGL03374:Gucy2c
|
APN |
6 |
136,765,630 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03393:Gucy2c
|
APN |
6 |
136,719,667 (GRCm38) |
missense |
probably benign |
0.04 |
|
BB001:Gucy2c
|
UTSW |
6 |
136,763,055 (GRCm38) |
missense |
probably benign |
0.35 |
|
BB011:Gucy2c
|
UTSW |
6 |
136,763,055 (GRCm38) |
missense |
probably benign |
0.35 |
|
R0031:Gucy2c
|
UTSW |
6 |
136,697,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0128:Gucy2c
|
UTSW |
6 |
136,704,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0377:Gucy2c
|
UTSW |
6 |
136,750,917 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0593:Gucy2c
|
UTSW |
6 |
136,728,335 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0613:Gucy2c
|
UTSW |
6 |
136,760,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Gucy2c
|
UTSW |
6 |
136,727,801 (GRCm38) |
splice site |
probably null |
|
|
R0828:Gucy2c
|
UTSW |
6 |
136,709,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0837:Gucy2c
|
UTSW |
6 |
136,722,420 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0880:Gucy2c
|
UTSW |
6 |
136,709,832 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1350:Gucy2c
|
UTSW |
6 |
136,743,914 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1487:Gucy2c
|
UTSW |
6 |
136,748,826 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1751:Gucy2c
|
UTSW |
6 |
136,748,775 (GRCm38) |
splice site |
probably benign |
|
|
R1791:Gucy2c
|
UTSW |
6 |
136,744,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1953:Gucy2c
|
UTSW |
6 |
136,704,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2135:Gucy2c
|
UTSW |
6 |
136,723,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2227:Gucy2c
|
UTSW |
6 |
136,702,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2350:Gucy2c
|
UTSW |
6 |
136,763,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2906:Gucy2c
|
UTSW |
6 |
136,708,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2907:Gucy2c
|
UTSW |
6 |
136,708,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3699:Gucy2c
|
UTSW |
6 |
136,770,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3972:Gucy2c
|
UTSW |
6 |
136,708,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:Gucy2c
|
UTSW |
6 |
136,708,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4732:Gucy2c
|
UTSW |
6 |
136,767,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4733:Gucy2c
|
UTSW |
6 |
136,767,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4776:Gucy2c
|
UTSW |
6 |
136,722,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5087:Gucy2c
|
UTSW |
6 |
136,767,035 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5284:Gucy2c
|
UTSW |
6 |
136,763,043 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5366:Gucy2c
|
UTSW |
6 |
136,720,741 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5466:Gucy2c
|
UTSW |
6 |
136,781,465 (GRCm38) |
nonsense |
probably null |
|
|
R5911:Gucy2c
|
UTSW |
6 |
136,722,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6160:Gucy2c
|
UTSW |
6 |
136,740,686 (GRCm38) |
nonsense |
probably null |
|
|
R6367:Gucy2c
|
UTSW |
6 |
136,709,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6441:Gucy2c
|
UTSW |
6 |
136,723,761 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6812:Gucy2c
|
UTSW |
6 |
136,697,995 (GRCm38) |
missense |
probably benign |
|
|
R6865:Gucy2c
|
UTSW |
6 |
136,770,129 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7065:Gucy2c
|
UTSW |
6 |
136,720,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7078:Gucy2c
|
UTSW |
6 |
136,697,939 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7096:Gucy2c
|
UTSW |
6 |
136,728,341 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7138:Gucy2c
|
UTSW |
6 |
136,728,344 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7343:Gucy2c
|
UTSW |
6 |
136,702,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7538:Gucy2c
|
UTSW |
6 |
136,709,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7587:Gucy2c
|
UTSW |
6 |
136,704,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7666:Gucy2c
|
UTSW |
6 |
136,697,968 (GRCm38) |
missense |
probably benign |
|
|
R7675:Gucy2c
|
UTSW |
6 |
136,716,032 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7822:Gucy2c
|
UTSW |
6 |
136,708,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7842:Gucy2c
|
UTSW |
6 |
136,769,816 (GRCm38) |
splice site |
probably null |
|
|
R7924:Gucy2c
|
UTSW |
6 |
136,763,055 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8078:Gucy2c
|
UTSW |
6 |
136,697,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Gucy2c
|
UTSW |
6 |
136,737,448 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8391:Gucy2c
|
UTSW |
6 |
136,704,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8428:Gucy2c
|
UTSW |
6 |
136,727,894 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9188:Gucy2c
|
UTSW |
6 |
136,723,758 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9189:Gucy2c
|
UTSW |
6 |
136,751,047 (GRCm38) |
missense |
probably benign |
|
|
R9325:Gucy2c
|
UTSW |
6 |
136,766,994 (GRCm38) |
nonsense |
probably null |
|
|
R9361:Gucy2c
|
UTSW |
6 |
136,737,431 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9413:Gucy2c
|
UTSW |
6 |
136,723,773 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
Z1088:Gucy2c
|
UTSW |
6 |
136,743,981 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Gucy2c
|
UTSW |
6 |
136,767,196 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Gucy2c
|
UTSW |
6 |
136,719,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGCCGAATACCGAAAACAGTG -3'
(R):5'- ACGGCCACACGTACAGAGAAATTG -3'
Sequencing Primer
(F):5'- gcctgatgccctcttctg -3'
(R):5'- ACAGAGAAATTGATTCAAAATGTCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation