Incidental Mutation 'R5911:Gucy2c'
| ID |
460995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2c
|
| Ensembl Gene |
ENSMUSG00000042638 |
| Gene Name |
guanylate cyclase 2c |
| Synonyms |
GC-C |
| MMRRC Submission |
044108-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5911 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136674282-136758740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136699440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 610
(G610R)
|
| 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: G634R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: G634R
| 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: G610R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: G610R
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
92% (77/84) |
| 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 |
|---|
| 1700003H04Rik |
C |
T |
3: 124,350,380 (GRCm39) |
|
probably benign |
Het |
| Acacb |
A |
T |
5: 114,370,951 (GRCm39) |
D1731V |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,226,778 (GRCm39) |
V563I |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,692,471 (GRCm39) |
E175G |
probably damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,747 (GRCm39) |
T602S |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,001,591 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
G |
T |
10: 4,508,551 (GRCm39) |
E592* |
probably null |
Het |
| Clasp1 |
C |
A |
1: 118,434,638 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,568,564 (GRCm39) |
M291L |
probably benign |
Het |
| Cyp3a41b |
T |
A |
5: 145,519,349 (GRCm39) |
L47F |
probably benign |
Het |
| Dgcr6 |
A |
G |
16: 17,884,598 (GRCm39) |
D82G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,754 (GRCm39) |
E592G |
probably damaging |
Het |
| Dtl |
G |
A |
1: 191,300,519 (GRCm39) |
T115I |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,457,510 (GRCm39) |
Y338C |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,897 (GRCm39) |
D198G |
probably damaging |
Het |
| Ereg |
A |
C |
5: 91,222,552 (GRCm39) |
|
probably benign |
Het |
| Esp31 |
G |
C |
17: 38,951,933 (GRCm39) |
|
probably null |
Het |
| Faap100 |
T |
C |
11: 120,267,958 (GRCm39) |
I272V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,560 (GRCm39) |
D109G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,339,299 (GRCm39) |
M51L |
probably benign |
Het |
| Fcnb |
A |
T |
2: 27,966,701 (GRCm39) |
N277K |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,009,325 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,932 (GRCm39) |
F289S |
possibly damaging |
Het |
| Grik4 |
C |
A |
9: 42,502,720 (GRCm39) |
V468F |
probably damaging |
Het |
| Gtdc1 |
T |
A |
2: 44,642,076 (GRCm39) |
R168S |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,793,534 (GRCm39) |
Q65L |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,849,035 (GRCm39) |
D356E |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,157,737 (GRCm39) |
|
probably benign |
Het |
| Igkv13-57-2 |
T |
C |
6: 69,500,971 (GRCm39) |
|
noncoding transcript |
Het |
| Itih4 |
A |
G |
14: 30,612,612 (GRCm39) |
I213V |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,214,441 (GRCm39) |
K1469E |
probably benign |
Het |
| Jkampl |
T |
C |
6: 73,445,674 (GRCm39) |
T292A |
probably damaging |
Het |
| Jrk |
T |
C |
15: 74,577,617 (GRCm39) |
D556G |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,663,905 (GRCm39) |
I345F |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,303,025 (GRCm39) |
E187G |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,779,833 (GRCm39) |
Y111H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,229 (GRCm39) |
V319D |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,156,092 (GRCm39) |
L553P |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,351 (GRCm39) |
I225F |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,915 (GRCm39) |
H172L |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,027 (GRCm39) |
V101I |
probably benign |
Het |
| Or5e1 |
T |
A |
7: 108,354,882 (GRCm39) |
I273N |
probably benign |
Het |
| Or5p66 |
T |
A |
7: 107,885,605 (GRCm39) |
T243S |
probably damaging |
Het |
| Or7g26 |
T |
C |
9: 19,230,445 (GRCm39) |
I205T |
probably benign |
Het |
| Pelp1 |
C |
T |
11: 70,287,740 (GRCm39) |
R394H |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,109,817 (GRCm39) |
|
probably null |
Het |
| Prr5 |
C |
A |
15: 84,585,635 (GRCm39) |
S201* |
probably null |
Het |
| Rad23b |
T |
A |
4: 55,370,474 (GRCm39) |
|
probably null |
Het |
| Rasgef1a |
T |
A |
6: 118,061,335 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,738,832 (GRCm39) |
I565N |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,945,600 (GRCm39) |
N527S |
probably damaging |
Het |
| Slc39a5 |
T |
A |
10: 128,235,812 (GRCm39) |
N49Y |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,694,058 (GRCm39) |
S571T |
probably benign |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,926,454 (GRCm39) |
D480V |
probably benign |
Het |
| Thpo |
T |
A |
16: 20,547,546 (GRCm39) |
S22C |
probably null |
Het |
| Top2a |
T |
A |
11: 98,907,291 (GRCm39) |
T180S |
possibly damaging |
Het |
| Trim37 |
T |
A |
11: 87,087,663 (GRCm39) |
Y34* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,361 (GRCm39) |
E1254G |
possibly damaging |
Het |
| Ttc39a |
C |
T |
4: 109,280,168 (GRCm39) |
P150L |
possibly damaging |
Het |
| Ttc4 |
T |
C |
4: 106,525,240 (GRCm39) |
D298G |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,386,482 (GRCm39) |
V41A |
probably benign |
Het |
| Vmn1r20 |
C |
A |
6: 57,408,774 (GRCm39) |
H33Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,456,174 (GRCm39) |
Y1329N |
unknown |
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 |
|
|
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'- AGAAAGAGTTAAAGTGTTGCCTGTC -3'
(R):5'- AATTGGACAGTACGGCCACAC -3'
Sequencing Primer
(F):5'- AGAGTTAAAGTGTTGCCTGTCTCCTC -3'
(R):5'- GGCCACACGTACAGAGAAATTGATTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation