Incidental Mutation 'R4613:Gucy2c'
| ID |
350962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
041824-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4613 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136685319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 898
(D898V)
|
| 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: D898V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: D898V
| 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: D874V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: D874V
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
A |
T |
17: 48,439,167 (GRCm39) |
L130I |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,035,610 (GRCm39) |
V670A |
probably benign |
Het |
| Adad1 |
A |
G |
3: 37,146,182 (GRCm39) |
N517D |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,379,245 (GRCm39) |
L48P |
probably benign |
Het |
| Aoc3 |
A |
T |
11: 101,228,485 (GRCm39) |
|
probably benign |
Het |
| Areg |
A |
G |
5: 91,291,363 (GRCm39) |
K102R |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,745,963 (GRCm39) |
T167A |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,953,525 (GRCm39) |
G986D |
probably benign |
Het |
| Caml |
G |
T |
13: 55,772,955 (GRCm39) |
G200C |
probably damaging |
Het |
| Ccdc40 |
A |
C |
11: 119,122,358 (GRCm39) |
R53S |
probably benign |
Het |
| Cdh22 |
T |
A |
2: 164,985,576 (GRCm39) |
I337L |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,554,883 (GRCm39) |
V2065D |
probably benign |
Het |
| Copg2 |
A |
G |
6: 30,788,531 (GRCm39) |
S591P |
probably benign |
Het |
| Cyp2d34 |
G |
A |
15: 82,500,526 (GRCm39) |
P438S |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,931 (GRCm39) |
D163G |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,500,177 (GRCm39) |
V230A |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,132,790 (GRCm39) |
L1300H |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,839,933 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
A |
T |
18: 20,174,876 (GRCm39) |
D466E |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,984,411 (GRCm39) |
D372G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,934,571 (GRCm39) |
F23I |
probably benign |
Het |
| Eogt |
G |
T |
6: 97,111,265 (GRCm39) |
Q199K |
probably benign |
Het |
| Epha6 |
C |
A |
16: 59,486,960 (GRCm39) |
R1029L |
possibly damaging |
Het |
| Eppin |
C |
A |
2: 164,431,243 (GRCm39) |
E128* |
probably null |
Het |
| Fgf20 |
T |
C |
8: 40,739,652 (GRCm39) |
R33G |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
| Fhip2a |
C |
A |
19: 57,359,619 (GRCm39) |
P53Q |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,115,951 (GRCm39) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,765,241 (GRCm39) |
V970A |
probably damaging |
Het |
| Gramd1b |
A |
T |
9: 40,219,289 (GRCm39) |
V508D |
probably damaging |
Het |
| Kcnj15 |
T |
C |
16: 95,096,653 (GRCm39) |
Y92H |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,158,693 (GRCm39) |
S652T |
unknown |
Het |
| Ldb2 |
G |
T |
5: 44,633,893 (GRCm39) |
Q326K |
probably benign |
Het |
| Lipi |
C |
A |
16: 75,357,689 (GRCm39) |
R292L |
probably benign |
Het |
| Lrrc36 |
G |
A |
8: 106,176,246 (GRCm39) |
V207I |
possibly damaging |
Het |
| Lyplal1 |
C |
T |
1: 185,820,949 (GRCm39) |
G166D |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,566,810 (GRCm39) |
Y1970* |
probably null |
Het |
| Map2 |
A |
G |
1: 66,464,628 (GRCm39) |
N287D |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,747,498 (GRCm39) |
Q578L |
probably benign |
Het |
| Map3k11 |
G |
T |
19: 5,747,499 (GRCm39) |
Q578H |
probably damaging |
Het |
| Map4k4 |
G |
A |
1: 40,056,351 (GRCm39) |
S1012N |
probably benign |
Het |
| Mapk13 |
A |
T |
17: 28,988,426 (GRCm39) |
N15Y |
probably damaging |
Het |
| Mapk15 |
G |
A |
15: 75,867,759 (GRCm39) |
A125T |
probably damaging |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,456 (GRCm39) |
R152L |
possibly damaging |
Het |
| Mtrex |
C |
A |
13: 113,058,273 (GRCm39) |
E53* |
probably null |
Het |
| Muc5ac |
T |
G |
7: 141,344,840 (GRCm39) |
Y104D |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,486,440 (GRCm39) |
N566S |
possibly damaging |
Het |
| Myo1h |
C |
A |
5: 114,489,737 (GRCm39) |
H647Q |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,796,324 (GRCm39) |
I1201T |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,490,186 (GRCm39) |
T514A |
probably benign |
Het |
| Or10al4 |
A |
G |
17: 38,037,587 (GRCm39) |
Y224C |
probably damaging |
Het |
| Or12j4 |
A |
T |
7: 140,046,981 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or7a42 |
A |
G |
10: 78,791,899 (GRCm39) |
N287D |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,039,018 (GRCm39) |
K80* |
probably null |
Het |
| Orc2 |
A |
T |
1: 58,539,468 (GRCm39) |
L57* |
probably null |
Het |
| Otoa |
G |
A |
7: 120,744,791 (GRCm39) |
V850M |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,247 (GRCm39) |
T1579A |
possibly damaging |
Het |
| Pde5a |
A |
T |
3: 122,616,742 (GRCm39) |
Y564F |
probably damaging |
Het |
| Pdxk |
A |
C |
10: 78,283,753 (GRCm39) |
I147S |
probably damaging |
Het |
| Pfdn5 |
A |
G |
15: 102,237,187 (GRCm39) |
D108G |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,044,621 (GRCm39) |
D342G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,443,753 (GRCm39) |
V336E |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,393,834 (GRCm39) |
S13* |
probably null |
Het |
| Rfng |
A |
G |
11: 120,673,476 (GRCm39) |
L215P |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,144,345 (GRCm39) |
F336L |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,449,246 (GRCm39) |
|
probably null |
Het |
| Sirpb1a |
T |
A |
3: 15,482,097 (GRCm39) |
Y77F |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,196,971 (GRCm39) |
D294G |
probably benign |
Het |
| Sox13 |
T |
C |
1: 133,316,672 (GRCm39) |
I212V |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,069,549 (GRCm39) |
I657N |
possibly damaging |
Het |
| Srsf6 |
C |
A |
2: 162,775,629 (GRCm39) |
T146K |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,558,088 (GRCm39) |
V162A |
possibly damaging |
Het |
| Sulf2 |
T |
C |
2: 165,974,525 (GRCm39) |
D53G |
probably damaging |
Het |
| Tbc1d8 |
T |
A |
1: 39,411,789 (GRCm39) |
I1016F |
probably damaging |
Het |
| Tfrc |
G |
T |
16: 32,437,475 (GRCm39) |
A278S |
probably damaging |
Het |
| Tnrc6a |
T |
G |
7: 122,783,512 (GRCm39) |
|
probably null |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,695 (GRCm39) |
I121V |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,858,225 (GRCm39) |
S2200G |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,206,230 (GRCm39) |
D397E |
probably damaging |
Het |
| Wipf3 |
T |
C |
6: 54,462,540 (GRCm39) |
L250P |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,748 (GRCm39) |
F45S |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,547,889 (GRCm39) |
T910A |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,841,101 (GRCm39) |
Y507H |
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 |
|
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 |
|
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'- GAAAACCATGCCCTGTGTG -3'
(R):5'- GGGCCCTGAATGAGGTAAAC -3'
Sequencing Primer
(F):5'- AAAACCATGCCCTGTGTGTTTTG -3'
(R):5'- TAAACAGGACTGCTCGATCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation