Incidental Mutation 'R7096:Gucy2c'
| ID |
550481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
045188-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7096 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136705339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032338
AA Change: D532G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: D532G
| 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 benign
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: 98.9%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
G |
3: 40,888,305 (GRCm39) |
M383R |
probably damaging |
Het |
| Acd |
T |
A |
8: 106,425,121 (GRCm39) |
E366V |
possibly damaging |
Het |
| Acvr2b |
T |
A |
9: 119,257,255 (GRCm39) |
|
probably null |
Het |
| Alg10b |
C |
T |
15: 90,111,564 (GRCm39) |
T136I |
probably benign |
Het |
| Ankrd42 |
T |
A |
7: 92,241,040 (GRCm39) |
K440* |
probably null |
Het |
| Apc |
T |
A |
18: 34,449,010 (GRCm39) |
S1969T |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,019,897 (GRCm39) |
Y447C |
probably damaging |
Het |
| AW146154 |
G |
A |
7: 41,130,867 (GRCm39) |
A83V |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Barhl1 |
T |
G |
2: 28,799,726 (GRCm39) |
I300L |
probably benign |
Het |
| Brd1 |
C |
A |
15: 88,598,138 (GRCm39) |
R536L |
probably damaging |
Het |
| Brms1 |
T |
A |
19: 5,096,708 (GRCm39) |
I130N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,073,241 (GRCm39) |
H63R |
probably damaging |
Het |
| Ccl28 |
A |
G |
13: 120,112,429 (GRCm39) |
I74V |
probably benign |
Het |
| Cd300ld |
T |
A |
11: 114,878,321 (GRCm39) |
I64F |
possibly damaging |
Het |
| Cdkl2 |
G |
A |
5: 92,181,043 (GRCm39) |
Q199* |
probably null |
Het |
| Cdkn2c |
C |
T |
4: 109,518,555 (GRCm39) |
R133Q |
probably benign |
Het |
| Coq2 |
A |
G |
5: 100,811,586 (GRCm39) |
|
probably benign |
Het |
| Coq6 |
T |
C |
12: 84,408,595 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
C |
T |
4: 128,356,519 (GRCm39) |
S1608L |
|
Het |
| Cyp11b2 |
T |
A |
15: 74,727,837 (GRCm39) |
R82W |
probably damaging |
Het |
| Cyp2d10 |
T |
C |
15: 82,289,462 (GRCm39) |
T217A |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,522,599 (GRCm39) |
I2880V |
possibly damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,623,512 (GRCm39) |
T3595K |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,848,478 (GRCm39) |
E183V |
probably damaging |
Het |
| Elovl6 |
A |
G |
3: 129,398,755 (GRCm39) |
N52S |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,477,190 (GRCm39) |
A455S |
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,270,209 (GRCm39) |
N74S |
probably benign |
Het |
| Gstk1 |
C |
A |
6: 42,226,407 (GRCm39) |
T172K |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,295,731 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
T |
A |
15: 102,845,473 (GRCm39) |
N62K |
possibly damaging |
Het |
| Hsdl1 |
C |
A |
8: 120,293,064 (GRCm39) |
A124S |
possibly damaging |
Het |
| Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,309 (GRCm39) |
M404I |
possibly damaging |
Het |
| Ldhb |
A |
G |
6: 142,447,099 (GRCm39) |
F72L |
probably benign |
Het |
| Map10 |
T |
C |
8: 126,398,662 (GRCm39) |
L685P |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,927,961 (GRCm39) |
V174A |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,859,991 (GRCm39) |
Q328K |
possibly damaging |
Het |
| Mta2 |
A |
T |
19: 8,925,139 (GRCm39) |
I336F |
probably damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,769 (GRCm39) |
I33N |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,782,324 (GRCm39) |
|
probably null |
Het |
| Myof |
C |
A |
19: 37,924,648 (GRCm39) |
G1215V |
probably damaging |
Het |
| Nlgn2 |
G |
A |
11: 69,716,516 (GRCm39) |
T675M |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,463 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p61 |
C |
A |
7: 107,758,848 (GRCm39) |
M77I |
probably benign |
Het |
| Or6c38 |
T |
C |
10: 128,929,715 (GRCm39) |
I43V |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,527,435 (GRCm39) |
D122G |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,722,643 (GRCm39) |
R1350C |
probably damaging |
Het |
| Pdzrn4 |
C |
A |
15: 92,295,384 (GRCm39) |
Q197K |
probably benign |
Het |
| Pitpnm2 |
C |
T |
5: 124,267,324 (GRCm39) |
G639S |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,648,112 (GRCm39) |
K156* |
probably null |
Het |
| Pkmyt1 |
T |
A |
17: 23,953,087 (GRCm39) |
H214Q |
probably damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,104,867 (GRCm39) |
R597Q |
probably benign |
Het |
| Poteg |
C |
A |
8: 27,963,595 (GRCm39) |
A344E |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,840 (GRCm39) |
M87T |
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,424,896 (GRCm39) |
I487V |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,283,057 (GRCm39) |
R681L |
probably damaging |
Het |
| Rimbp2 |
C |
A |
5: 128,851,333 (GRCm39) |
R871L |
probably damaging |
Het |
| Rnf135 |
T |
C |
11: 80,080,051 (GRCm39) |
V114A |
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,060,446 (GRCm39) |
H849L |
probably benign |
Het |
| Snai2 |
A |
G |
16: 14,525,028 (GRCm39) |
H178R |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Taar1 |
A |
T |
10: 23,796,809 (GRCm39) |
E169V |
possibly damaging |
Het |
| Tdrd12 |
G |
T |
7: 35,187,014 (GRCm39) |
D625E |
|
Het |
| Tlr6 |
A |
G |
5: 65,111,119 (GRCm39) |
V596A |
probably benign |
Het |
| Trak2 |
T |
G |
1: 58,942,749 (GRCm39) |
N886H |
probably damaging |
Het |
| Tsga10 |
T |
A |
1: 37,879,695 (GRCm39) |
D32V |
probably damaging |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,196 (GRCm39) |
D230G |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,682,762 (GRCm39) |
L814S |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,989,044 (GRCm39) |
D353G |
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 |
|
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'- AGCCAAGTTGCCTTTCCTG -3'
(R):5'- AGTGTTCCAGAACGTTTACCATG -3'
Sequencing Primer
(F):5'- gtgtgtgtgtgtgtgtgt -3'
(R):5'- TTCCAGAACGTTTACCATGCAACAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation