Incidental Mutation 'R8428:Gucy2c'
ID |
653596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2c
|
Ensembl Gene |
ENSMUSG00000042638 |
Gene Name |
guanylate cyclase 2c |
Synonyms |
GC-C |
MMRRC Submission |
067822-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8428 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136704892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 541
(Y541H)
|
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: Y541H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032338 Gene: ENSMUSG00000042638 AA Change: Y541H
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: Y517H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077236 Gene: ENSMUSG00000042638 AA Change: Y517H
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: 99.5%
- 20x: 98.4%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
A |
G |
10: 126,923,175 (GRCm39) |
I670V |
unknown |
Het |
Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cbx8 |
C |
A |
11: 118,929,754 (GRCm39) |
V280F |
probably damaging |
Het |
Ccdc117 |
A |
T |
11: 5,484,350 (GRCm39) |
S163R |
possibly damaging |
Het |
Ccdc17 |
A |
T |
4: 116,456,823 (GRCm39) |
I509F |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,403,163 (GRCm39) |
V1091A |
probably benign |
Het |
Cntnap5b |
C |
T |
1: 100,311,310 (GRCm39) |
T972I |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 90,740,240 (GRCm39) |
L9P |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,051,634 (GRCm39) |
R3053S |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,512,112 (GRCm39) |
N2983I |
probably damaging |
Het |
Dnah7c |
T |
C |
1: 46,711,536 (GRCm39) |
Y2588H |
probably damaging |
Het |
Dpysl5 |
A |
G |
5: 30,902,811 (GRCm39) |
D81G |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,653,884 (GRCm39) |
D1387G |
probably benign |
Het |
Exd1 |
G |
T |
2: 119,369,348 (GRCm39) |
T89K |
possibly damaging |
Het |
Ezh2 |
T |
A |
6: 47,522,745 (GRCm39) |
R364* |
probably null |
Het |
Fam161b |
C |
T |
12: 84,404,369 (GRCm39) |
D104N |
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,215,763 (GRCm39) |
V416L |
probably benign |
Het |
Flnc |
A |
T |
6: 29,450,849 (GRCm39) |
D1499V |
probably benign |
Het |
Fmc1 |
A |
T |
6: 38,516,115 (GRCm39) |
R54* |
probably null |
Het |
Fzr1 |
A |
G |
10: 81,206,942 (GRCm39) |
F61S |
probably damaging |
Het |
Get4 |
T |
G |
5: 139,251,393 (GRCm39) |
C160G |
probably benign |
Het |
Gm32742 |
G |
A |
9: 51,055,675 (GRCm39) |
R1330* |
probably null |
Het |
Gnat3 |
G |
A |
5: 18,220,312 (GRCm39) |
A225T |
possibly damaging |
Het |
Hand2 |
A |
G |
8: 57,775,461 (GRCm39) |
T174A |
probably benign |
Het |
Helb |
T |
C |
10: 119,927,522 (GRCm39) |
T863A |
probably damaging |
Het |
Hoxa7 |
A |
T |
6: 52,194,993 (GRCm39) |
V2D |
unknown |
Het |
Ifi44 |
G |
A |
3: 151,444,978 (GRCm39) |
R325* |
probably null |
Het |
Igfn1 |
C |
T |
1: 135,895,520 (GRCm39) |
G1682E |
probably damaging |
Het |
Itch |
A |
G |
2: 155,010,627 (GRCm39) |
N32D |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,744,923 (GRCm39) |
V1673A |
probably benign |
Het |
Map1a |
A |
T |
2: 121,135,418 (GRCm39) |
D2078V |
probably benign |
Het |
Mgat4b |
G |
T |
11: 50,121,512 (GRCm39) |
V35L |
probably benign |
Het |
Micu3 |
G |
A |
8: 40,761,205 (GRCm39) |
M38I |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,387,241 (GRCm39) |
H706L |
probably damaging |
Het |
Ndc1 |
A |
G |
4: 107,226,017 (GRCm39) |
T42A |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,095,152 (GRCm39) |
M1131K |
probably damaging |
Het |
Nop14 |
G |
A |
5: 34,798,784 (GRCm39) |
S648L |
probably damaging |
Het |
Or51k1 |
G |
T |
7: 103,661,632 (GRCm39) |
Y92* |
probably null |
Het |
Otogl |
A |
G |
10: 107,634,597 (GRCm39) |
V1413A |
probably damaging |
Het |
Palb2 |
T |
A |
7: 121,711,224 (GRCm39) |
M967L |
possibly damaging |
Het |
Pira12 |
G |
A |
7: 3,898,257 (GRCm39) |
T355I |
probably benign |
Het |
Ppa2 |
A |
G |
3: 133,053,904 (GRCm39) |
K198R |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,756 (GRCm39) |
T30A |
probably benign |
Het |
Prss50 |
C |
T |
9: 110,687,128 (GRCm39) |
R24C |
unknown |
Het |
Rbm17 |
T |
C |
2: 11,605,441 (GRCm39) |
T38A |
possibly damaging |
Het |
Rps6ka5 |
G |
A |
12: 100,541,500 (GRCm39) |
Q420* |
probably null |
Het |
Senp6 |
G |
T |
9: 80,025,794 (GRCm39) |
R448L |
probably damaging |
Het |
Senp7 |
T |
C |
16: 55,999,391 (GRCm39) |
I838T |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,337,242 (GRCm39) |
S329N |
possibly damaging |
Het |
Slc13a4 |
A |
T |
6: 35,245,814 (GRCm39) |
D610E |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 87,145,337 (GRCm39) |
L239P |
probably damaging |
Het |
Slc39a5 |
T |
A |
10: 128,232,884 (GRCm39) |
H389L |
probably damaging |
Het |
Syt4 |
A |
G |
18: 31,577,072 (GRCm39) |
L94P |
probably damaging |
Het |
Tgm5 |
A |
G |
2: 120,879,356 (GRCm39) |
V560A |
probably benign |
Het |
Thoc5 |
A |
G |
11: 4,876,115 (GRCm39) |
T623A |
probably damaging |
Het |
Tm7sf2 |
C |
T |
19: 6,113,074 (GRCm39) |
V376I |
probably benign |
Het |
Tmem268 |
T |
A |
4: 63,496,141 (GRCm39) |
V194E |
probably damaging |
Het |
Tpr |
C |
A |
1: 150,290,564 (GRCm39) |
R798S |
probably damaging |
Het |
Trpv5 |
G |
T |
6: 41,630,182 (GRCm39) |
T685K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,584,774 (GRCm39) |
N22141K |
probably damaging |
Het |
Txnrd2 |
T |
C |
16: 18,275,048 (GRCm39) |
I353T |
unknown |
Het |
Upk1a |
A |
G |
7: 30,303,043 (GRCm39) |
Y252H |
probably damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,915,642 (GRCm39) |
I436T |
probably benign |
Het |
Vmn2r76 |
T |
A |
7: 85,874,479 (GRCm39) |
I833F |
possibly damaging |
Het |
Zfp277 |
T |
C |
12: 40,379,577 (GRCm39) |
H319R |
probably 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 |
|
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 |
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'- TTCCTGAGGGCTCTCTGATG -3'
(R):5'- ACACCACAAGCCTGGTTTTATTTG -3'
Sequencing Primer
(F):5'- GTACAAGCATTTTGCCTGCATG -3'
(R):5'- CAAGCCTGGTTTTATTTGAAAGTAG -3'
|
Posted On |
2020-10-20 |