Incidental Mutation 'R7065:Gucy2c'
| ID |
548513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
045161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136697764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 636
(K636E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032338]
[ENSMUST00000078095]
|
| AlphaFold |
Q3UWA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032338
AA Change: K660E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: K660E
| 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: K636E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: K636E
| 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 |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,074,233 (GRCm39) |
S1150Y |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,595 (GRCm39) |
V1486E |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,546,725 (GRCm39) |
Y292F |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,201,691 (GRCm39) |
|
probably null |
Het |
| Ankmy2 |
G |
A |
12: 36,237,707 (GRCm39) |
E269K |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,549,402 (GRCm39) |
S1201P |
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,729,677 (GRCm39) |
Y122C |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,014,140 (GRCm39) |
Y1210F |
probably damaging |
Het |
| Cflar |
T |
G |
1: 58,770,368 (GRCm39) |
L154V |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,533,162 (GRCm39) |
D134G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Ctnna1 |
A |
T |
18: 35,285,669 (GRCm39) |
H5L |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,343,906 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,064,545 (GRCm39) |
Q2627P |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,730,709 (GRCm39) |
D569G |
probably damaging |
Het |
| Frmd4a |
G |
A |
2: 4,570,923 (GRCm39) |
|
|
Het |
| Fryl |
T |
C |
5: 73,248,099 (GRCm39) |
D1006G |
probably damaging |
Het |
| Gclm |
A |
G |
3: 122,056,320 (GRCm39) |
N137D |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,061,109 (GRCm39) |
Y531C |
probably damaging |
Het |
| Gpm6a |
C |
A |
8: 55,490,493 (GRCm39) |
N56K |
probably benign |
Het |
| Grik4 |
A |
C |
9: 42,455,127 (GRCm39) |
V656G |
probably damaging |
Het |
| Grip2 |
C |
A |
6: 91,760,550 (GRCm39) |
|
probably null |
Het |
| Ifi44l |
A |
G |
3: 151,465,429 (GRCm39) |
I107T |
|
Het |
| Kif1b |
T |
C |
4: 149,286,982 (GRCm39) |
T1237A |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,386 (GRCm39) |
D131G |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,084,603 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,985,402 (GRCm39) |
M1273K |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,002,472 (GRCm39) |
M228K |
probably damaging |
Het |
| Mterf4 |
T |
A |
1: 93,232,617 (GRCm39) |
H78L |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,894,857 (GRCm39) |
L128* |
probably null |
Het |
| Nedd4l |
A |
G |
18: 65,329,040 (GRCm39) |
N627S |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,575,858 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,189 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Nrp1 |
C |
A |
8: 129,187,193 (GRCm39) |
T413N |
probably benign |
Het |
| Opn4 |
C |
A |
14: 34,317,834 (GRCm39) |
A267S |
probably benign |
Het |
| Or4c11c |
A |
T |
2: 88,661,730 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,523 (GRCm39) |
Y217H |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,345 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5p78 |
G |
A |
7: 108,212,266 (GRCm39) |
V251I |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,170,648 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
A |
G |
18: 37,154,679 (GRCm39) |
E466G |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,775,748 (GRCm39) |
E372G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,227,565 (GRCm39) |
V243D |
possibly damaging |
Het |
| Pla2g5 |
C |
A |
4: 138,527,915 (GRCm39) |
C117F |
probably damaging |
Het |
| Ppt2 |
A |
G |
17: 34,841,829 (GRCm39) |
S236P |
probably damaging |
Het |
| Raver1 |
T |
C |
9: 21,001,590 (GRCm39) |
D81G |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,378,650 (GRCm39) |
L525P |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,803,068 (GRCm39) |
E662G |
probably damaging |
Het |
| Scaf8 |
G |
A |
17: 3,209,486 (GRCm39) |
V66M |
probably damaging |
Het |
| Scn3a |
A |
C |
2: 65,295,199 (GRCm39) |
L1508R |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,197 (GRCm39) |
D261G |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,907,794 (GRCm39) |
R250G |
probably benign |
Het |
| Speer4d |
A |
C |
5: 15,825,421 (GRCm39) |
T49P |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,175,898 (GRCm39) |
D32E |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,224 (GRCm39) |
L269P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,628,456 (GRCm39) |
I14568T |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,367,712 (GRCm39) |
T413A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,784,049 (GRCm39) |
E755G |
probably damaging |
Het |
| Unc5a |
A |
T |
13: 55,138,896 (GRCm39) |
S92C |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,969 (GRCm39) |
Y275C |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,401 (GRCm39) |
S428T |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,428 (GRCm39) |
V779A |
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 |
|
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'- AGATTCGGGATCAGCGAGTC -3'
(R):5'- CCTTTGTCCCTAAAGCAAAGG -3'
Sequencing Primer
(F):5'- TCCCGAACGAATGCAGATTG -3'
(R):5'- AGCTTTTTGATCAGATGACGTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation