Incidental Mutation 'R7138:Gucy2c'
| ID |
553193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
045249-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7138 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136705342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 531
(I531T)
|
| 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: I531T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: I531T
| 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: 99.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,899,113 (GRCm39) |
C698* |
probably null |
Het |
| Acacb |
G |
A |
5: 114,345,387 (GRCm39) |
V947M |
probably benign |
Het |
| Acadsb |
T |
G |
7: 131,042,968 (GRCm39) |
L343R |
probably damaging |
Het |
| Adgrf2 |
C |
T |
17: 43,021,874 (GRCm39) |
E317K |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,154 (GRCm39) |
T663A |
unknown |
Het |
| Akap8 |
A |
T |
17: 32,535,515 (GRCm39) |
F166L |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,390,836 (GRCm39) |
M2278K |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,242 (GRCm39) |
S148P |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,933,835 (GRCm39) |
E266G |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,581,187 (GRCm39) |
K380E |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,227,544 (GRCm39) |
D542G |
possibly damaging |
Het |
| Cbln4 |
C |
A |
2: 171,884,095 (GRCm39) |
D42Y |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,034,473 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Cd5 |
C |
T |
19: 10,697,668 (GRCm39) |
R437Q |
probably damaging |
Het |
| Ceacam18 |
G |
C |
7: 43,288,706 (GRCm39) |
E152D |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,451,955 (GRCm39) |
S1347P |
possibly damaging |
Het |
| Chodl |
T |
G |
16: 78,738,335 (GRCm39) |
I101R |
probably damaging |
Het |
| Clk4 |
T |
G |
11: 51,168,759 (GRCm39) |
F377L |
probably damaging |
Het |
| Cntnap3 |
C |
T |
13: 64,929,539 (GRCm39) |
|
probably null |
Het |
| Dab2 |
A |
G |
15: 6,458,780 (GRCm39) |
S231G |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,617,361 (GRCm39) |
H118Q |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,900,009 (GRCm39) |
F3869S |
probably damaging |
Het |
| Edil3 |
C |
T |
13: 89,279,847 (GRCm39) |
T175I |
probably damaging |
Het |
| Eif1ad18 |
T |
G |
12: 88,050,648 (GRCm39) |
I61R |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,372,522 (GRCm39) |
S319P |
probably benign |
Het |
| Frmpd2 |
T |
A |
14: 33,293,761 (GRCm39) |
V1309E |
probably benign |
Het |
| Galntl5 |
T |
A |
5: 25,394,842 (GRCm39) |
S70T |
probably benign |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Gna15 |
G |
A |
10: 81,343,881 (GRCm39) |
T260M |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,417 (GRCm39) |
V238A |
probably damaging |
Het |
| Htr2a |
A |
G |
14: 74,943,182 (GRCm39) |
Y254C |
probably damaging |
Het |
| Inpp5b |
A |
G |
4: 124,679,065 (GRCm39) |
R491G |
probably damaging |
Het |
| Kcnt2 |
C |
T |
1: 140,523,778 (GRCm39) |
L1093F |
possibly damaging |
Het |
| Kcp |
C |
A |
6: 29,491,861 (GRCm39) |
E922* |
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,296,089 (GRCm39) |
A3340V |
possibly damaging |
Het |
| Lrrn1 |
T |
G |
6: 107,545,336 (GRCm39) |
V378G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Net1 |
G |
A |
13: 3,938,510 (GRCm39) |
R126C |
probably damaging |
Het |
| Nipsnap3a |
T |
C |
4: 52,993,978 (GRCm39) |
C20R |
probably benign |
Het |
| Nxpe2 |
C |
T |
9: 48,232,006 (GRCm39) |
C317Y |
probably damaging |
Het |
| Or10v9 |
T |
A |
19: 11,832,652 (GRCm39) |
I222F |
probably damaging |
Het |
| Or52h1 |
T |
C |
7: 103,829,504 (GRCm39) |
Y37C |
probably damaging |
Het |
| Or8b8 |
T |
C |
9: 37,809,360 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g54 |
T |
G |
9: 39,707,086 (GRCm39) |
Y138* |
probably null |
Het |
| Orm1 |
T |
A |
4: 63,262,949 (GRCm39) |
W39R |
probably damaging |
Het |
| Pds5b |
A |
T |
5: 150,724,142 (GRCm39) |
K1240* |
probably null |
Het |
| Pdss1 |
T |
A |
2: 22,802,681 (GRCm39) |
H173Q |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,423,882 (GRCm39) |
W84R |
probably damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,001,759 (GRCm39) |
C630Y |
probably damaging |
Het |
| Plaat3 |
T |
A |
19: 7,556,550 (GRCm39) |
V117E |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,463,635 (GRCm39) |
Q405K |
probably benign |
Het |
| Plppr2 |
T |
A |
9: 21,855,708 (GRCm39) |
V227E |
probably damaging |
Het |
| Pphln1-ps1 |
T |
A |
16: 13,495,589 (GRCm39) |
D229E |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,028,707 (GRCm39) |
S393P |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,737,900 (GRCm39) |
|
probably null |
Het |
| Ripk3 |
C |
A |
14: 56,025,803 (GRCm39) |
R19L |
probably benign |
Het |
| Rnase10 |
G |
T |
14: 51,247,167 (GRCm39) |
V182F |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,319,002 (GRCm39) |
S917R |
|
Het |
| Sephs2 |
T |
C |
7: 126,872,187 (GRCm39) |
N302S |
possibly damaging |
Het |
| Slc13a2 |
C |
T |
11: 78,289,950 (GRCm39) |
V455M |
possibly damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,071,429 (GRCm39) |
D54V |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,047,706 (GRCm39) |
E199G |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,436,247 (GRCm39) |
M256K |
probably benign |
Het |
| Spag4 |
T |
A |
2: 155,908,519 (GRCm39) |
S150T |
probably benign |
Het |
| Spon1 |
T |
A |
7: 113,635,945 (GRCm39) |
C720S |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,123,356 (GRCm39) |
S166P |
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,113 (GRCm39) |
I65T |
probably damaging |
Het |
| Tmem176a |
T |
A |
6: 48,820,953 (GRCm39) |
V141D |
probably damaging |
Het |
| Tmem268 |
G |
A |
4: 63,480,687 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,518,976 (GRCm39) |
V519A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,376 (GRCm39) |
P17204S |
possibly damaging |
Het |
| Wrap53 |
T |
A |
11: 69,454,694 (GRCm39) |
D225V |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,477,107 (GRCm39) |
A3241T |
possibly damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,097,372 (GRCm39) |
H47R |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,898,697 (GRCm39) |
R76G |
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 |
|
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'- TCAACAGCCAAGTTGCCTTTC -3'
(R):5'- TCCAGAACGTTTACCATGCAAC -3'
Sequencing Primer
(F):5'- CCAAGTTGCCTTTCCTGGGG -3'
(R):5'- TCCATAATCTGTACATAATGGGTCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation