Incidental Mutation 'R7842:Gucy2c'
| ID |
628682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
045896-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7842 (G1)
|
| Quality Score |
130.177 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
splice site (249 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 136746814 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,855,034 (GRCm39) |
T3A |
unknown |
Het |
| 4933412E24Rik |
T |
C |
15: 59,888,422 (GRCm39) |
E6G |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,087,523 (GRCm39) |
L1135P |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,681,876 (GRCm39) |
D113G |
probably damaging |
Het |
| Ankhd1 |
G |
T |
18: 36,780,881 (GRCm39) |
V1978L |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,957,966 (GRCm39) |
|
probably null |
Het |
| Arhgap5 |
T |
A |
12: 52,565,480 (GRCm39) |
M817K |
possibly damaging |
Het |
| Bdp1 |
C |
A |
13: 100,235,637 (GRCm39) |
V105F |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,496,454 (GRCm39) |
N189D |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,909,428 (GRCm39) |
N532I |
probably benign |
Het |
| Ccnc |
A |
C |
4: 21,730,480 (GRCm39) |
K39T |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,392,487 (GRCm39) |
V207A |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,411,952 (GRCm39) |
G1231* |
probably null |
Het |
| Chd7 |
A |
T |
4: 8,854,115 (GRCm39) |
T1896S |
probably benign |
Het |
| Clk4 |
A |
T |
11: 51,171,956 (GRCm39) |
H412L |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,465,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,946,093 (GRCm39) |
I225L |
possibly damaging |
Het |
| Cyp4f39 |
A |
T |
17: 32,702,291 (GRCm39) |
R263W |
probably benign |
Het |
| Dennd10 |
G |
A |
19: 60,819,317 (GRCm39) |
A263T |
not run |
Het |
| Dip2c |
T |
C |
13: 9,656,569 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 117,970,508 (GRCm39) |
|
probably null |
Het |
| Dnajc10 |
A |
G |
2: 80,175,409 (GRCm39) |
K599E |
probably benign |
Het |
| Dnajc7 |
C |
A |
11: 100,489,544 (GRCm39) |
R101L |
probably benign |
Het |
| Dnttip2 |
G |
A |
3: 122,069,990 (GRCm39) |
E402K |
probably benign |
Het |
| Dusp22 |
T |
A |
13: 30,852,774 (GRCm39) |
|
probably null |
Het |
| Egflam |
C |
A |
15: 7,280,675 (GRCm39) |
R450M |
probably null |
Het |
| Eml5 |
C |
T |
12: 98,760,394 (GRCm39) |
R1785Q |
probably damaging |
Het |
| Fam78b |
G |
T |
1: 166,829,178 (GRCm39) |
R15L |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,915,945 (GRCm39) |
I489N |
probably damaging |
Het |
| Flt3 |
G |
A |
5: 147,271,263 (GRCm39) |
P893S |
probably damaging |
Het |
| Gm17019 |
T |
C |
5: 15,081,049 (GRCm39) |
M131V |
possibly damaging |
Het |
| Gm21560 |
T |
A |
14: 6,216,262 (GRCm38) |
I194F |
probably benign |
Het |
| Gm28729 |
T |
C |
9: 96,399,705 (GRCm39) |
D158G |
probably damaging |
Het |
| Hectd1 |
C |
T |
12: 51,819,343 (GRCm39) |
G1247S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,816,970 (GRCm39) |
I946K |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,873,531 (GRCm39) |
D249V |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,549 (GRCm39) |
S133P |
probably damaging |
Het |
| Lsr |
A |
T |
7: 30,665,437 (GRCm39) |
D172E |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,420,702 (GRCm39) |
E184G |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,455,570 (GRCm39) |
D1421E |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,490,030 (GRCm39) |
L467H |
possibly damaging |
Het |
| Mogat1 |
T |
C |
1: 78,499,502 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
A |
G |
4: 155,927,367 (GRCm39) |
D384G |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,762,321 (GRCm39) |
T1214A |
|
Het |
| Naip1 |
T |
C |
13: 100,563,506 (GRCm39) |
Y553C |
probably damaging |
Het |
| Nln |
A |
T |
13: 104,189,137 (GRCm39) |
I278K |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,435,109 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,102,553 (GRCm39) |
R741G |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,305 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or52e19b |
A |
G |
7: 103,032,783 (GRCm39) |
V142A |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,330 (GRCm39) |
|
probably benign |
Het |
| Or8j3 |
G |
T |
2: 86,028,516 (GRCm39) |
Y193* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,462,744 (GRCm39) |
H607R |
probably benign |
Het |
| Pate2 |
A |
T |
9: 35,581,829 (GRCm39) |
Y41F |
probably damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,112 (GRCm39) |
T213S |
possibly damaging |
Het |
| Pcm1 |
G |
A |
8: 41,780,621 (GRCm39) |
E1858K |
possibly damaging |
Het |
| Pla2g2d |
A |
G |
4: 138,506,089 (GRCm39) |
T59A |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Prl2c2 |
A |
G |
13: 13,179,907 (GRCm39) |
L2P |
probably benign |
Het |
| Proz |
G |
A |
8: 13,113,406 (GRCm39) |
V76I |
probably benign |
Het |
| Prr36 |
A |
G |
8: 4,260,953 (GRCm39) |
S955P |
probably benign |
Het |
| Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,433,567 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
T |
C |
9: 106,763,088 (GRCm39) |
E360G |
probably damaging |
Het |
| Skint11 |
G |
A |
4: 114,101,968 (GRCm39) |
C327Y |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,961,174 (GRCm39) |
S987T |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tbx1 |
T |
C |
16: 18,405,365 (GRCm39) |
S100G |
unknown |
Het |
| Tiam2 |
C |
T |
17: 3,568,399 (GRCm39) |
S1515L |
possibly damaging |
Het |
| Togaram1 |
C |
A |
12: 65,013,233 (GRCm39) |
D161E |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,532,003 (GRCm39) |
S366T |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,724 (GRCm39) |
I691T |
possibly damaging |
Het |
| Ube4a |
A |
G |
9: 44,861,025 (GRCm39) |
|
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,235,516 (GRCm39) |
I1453N |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,058,313 (GRCm39) |
S972P |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,704,649 (GRCm39) |
D63N |
probably benign |
Het |
| Wls |
T |
A |
3: 159,578,816 (GRCm39) |
I126N |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,289 (GRCm39) |
D3350G |
probably benign |
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 |
|
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 |
|
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'- TCCCATTCTACAATAGATCGAAGG -3'
(R):5'- GGGCAAACAGTGTTGTCAAG -3'
Sequencing Primer
(F):5'- ATAAGAGCCTGGTTGTTTC -3'
(R):5'- CAAACAGTGTTGTCAAGGCAAC -3'
|
| Posted On |
2020-06-09 |
Incidental Mutation