Incidental Mutation 'R1953:Gucy2c'
| ID |
217465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
039967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136681291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 907
(V907A)
|
| 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: V931A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: V931A
| 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: V907A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: V907A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,268,772 (GRCm39) |
D12E |
probably damaging |
Het |
| Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,369,387 (GRCm39) |
S209F |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,028,991 (GRCm39) |
N247S |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 52,997,030 (GRCm39) |
L101S |
probably damaging |
Het |
| Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,721,726 (GRCm39) |
S2060P |
probably benign |
Het |
| Atp9b |
G |
A |
18: 80,797,522 (GRCm39) |
T851I |
possibly damaging |
Het |
| Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
| Bpifb9b |
A |
C |
2: 154,153,234 (GRCm39) |
D100A |
probably damaging |
Het |
| Cant1 |
G |
C |
11: 118,299,609 (GRCm39) |
P247A |
probably damaging |
Het |
| Capza3 |
A |
T |
6: 139,988,294 (GRCm39) |
I298L |
possibly damaging |
Het |
| Cdh10 |
T |
C |
15: 18,966,997 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,381 (GRCm39) |
V2551A |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,551 (GRCm39) |
L287P |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,997,313 (GRCm39) |
T257I |
probably benign |
Het |
| Crispld2 |
G |
A |
8: 120,742,035 (GRCm39) |
V128M |
probably damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,859,332 (GRCm39) |
T2043A |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,581,522 (GRCm39) |
T447I |
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,538 (GRCm39) |
T742A |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,492,894 (GRCm39) |
T499A |
probably benign |
Het |
| Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
| Fgd5 |
C |
A |
6: 92,001,611 (GRCm39) |
H935Q |
probably benign |
Het |
| Fhl4 |
A |
T |
10: 84,934,171 (GRCm39) |
D203E |
probably benign |
Het |
| Gapt |
T |
G |
13: 110,490,340 (GRCm39) |
T108P |
probably damaging |
Het |
| Gpt2 |
A |
G |
8: 86,248,013 (GRCm39) |
T419A |
probably benign |
Het |
| Hmbs |
T |
C |
9: 44,248,741 (GRCm39) |
D211G |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,557,860 (GRCm39) |
V170A |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,349,009 (GRCm39) |
T732S |
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,159,022 (GRCm39) |
Y546H |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,832,540 (GRCm39) |
H1670Y |
possibly damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,524,325 (GRCm39) |
D385G |
probably benign |
Het |
| Nr2e3 |
T |
A |
9: 59,857,079 (GRCm39) |
D30V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,294 (GRCm39) |
S580P |
probably benign |
Het |
| Or4c108 |
G |
A |
2: 88,804,224 (GRCm39) |
Q4* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,774,267 (GRCm39) |
L64P |
probably damaging |
Het |
| Or4e2 |
T |
A |
14: 52,688,344 (GRCm39) |
V158E |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,038 (GRCm39) |
H952R |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,410,849 (GRCm39) |
I1061F |
possibly damaging |
Het |
| Pnkp |
C |
A |
7: 44,512,026 (GRCm39) |
R517S |
probably benign |
Het |
| Polr2e |
T |
A |
10: 79,874,388 (GRCm39) |
E39D |
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,767,312 (GRCm39) |
I187T |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,575 (GRCm39) |
Y90C |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Rere |
G |
A |
4: 150,701,294 (GRCm39) |
E1225K |
probably damaging |
Het |
| Rsl24d1 |
G |
T |
9: 73,021,896 (GRCm39) |
|
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
| Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,776 (GRCm39) |
T72A |
possibly damaging |
Het |
| Snx29 |
G |
A |
16: 11,217,647 (GRCm39) |
W149* |
probably null |
Het |
| Stk31 |
G |
T |
6: 49,423,412 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
G |
5: 87,735,530 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
G |
A |
17: 27,163,661 (GRCm39) |
R41H |
possibly damaging |
Het |
| Tbc1d17 |
T |
A |
7: 44,490,822 (GRCm39) |
|
probably null |
Het |
| Tex55 |
G |
T |
16: 38,648,275 (GRCm39) |
T278K |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,329,987 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,692,083 (GRCm39) |
D848E |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,122 (GRCm39) |
I272T |
probably benign |
Het |
| Vwa1 |
C |
T |
4: 155,857,571 (GRCm39) |
V76M |
probably damaging |
Het |
| Xrn1 |
G |
T |
9: 95,906,274 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
G |
T |
7: 6,308,087 (GRCm39) |
V252F |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
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 |
|
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 |
|
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'- ACATGGCATGTTAGCACAGG -3'
(R):5'- GTGTTCTTTGCTATAACAAAAGCCC -3'
Sequencing Primer
(F):5'- TCAAGTCTAGCCCTGTGAGG -3'
(R):5'- GCCCAGAGCTTGTAGTCATTC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation