Incidental Mutation 'IGL03253:Gucy2d'
| ID |
414599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gucy2d
|
| Ensembl Gene |
ENSMUSG00000074003 |
| Gene Name |
guanylate cyclase 2d |
| Synonyms |
guanylyl cyclase D |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL03253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
98089623-98126685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98100871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 398
(A398V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
| AlphaFold |
A0A0U1RPR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098274
AA Change: A397V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: A397V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
65 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
88 |
421 |
6.7e-49 |
PFAM |
|
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
562 |
811 |
1.4e-33 |
PFAM |
|
Pfam:Pkinase
|
575 |
811 |
1.3e-28 |
PFAM |
|
CYCc
|
850 |
1045 |
8.67e-102 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206435
AA Change: A398V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozugous for a null allele lack olfactory response to uroguanylin and guanylin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,187,657 (GRCm39) |
V98I |
probably benign |
Het |
| Aadacl4 |
G |
T |
4: 144,349,858 (GRCm39) |
V372L |
probably benign |
Het |
| Acp5 |
A |
T |
9: 22,039,083 (GRCm39) |
I210N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,891,981 (GRCm39) |
A1287T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,214,002 (GRCm39) |
C72S |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,978,068 (GRCm39) |
Q800* |
probably null |
Het |
| Cd47 |
A |
T |
16: 49,714,561 (GRCm39) |
H190L |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,777,324 (GRCm39) |
H849L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,778 (GRCm39) |
Q2437* |
probably null |
Het |
| Depdc5 |
T |
C |
5: 33,026,157 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
A |
4: 48,208,750 (GRCm39) |
I237F |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,839,271 (GRCm39) |
W8* |
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,871,875 (GRCm39) |
E1357G |
possibly damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,579,468 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
A |
C |
14: 30,633,880 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
A |
G |
14: 20,192,405 (GRCm39) |
V252A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,415,198 (GRCm39) |
E771G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,078 (GRCm39) |
|
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,510,408 (GRCm39) |
E567G |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,143 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,407,393 (GRCm39) |
D548G |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,556 (GRCm39) |
|
noncoding transcript |
Het |
| Rad54l2 |
A |
G |
9: 106,581,422 (GRCm39) |
V833A |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,337,156 (GRCm39) |
K6* |
probably null |
Het |
| Sun1 |
T |
C |
5: 139,209,341 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,053,434 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
A |
11: 43,629,650 (GRCm39) |
E172V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,364 (GRCm39) |
V19215A |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,092 (GRCm39) |
I461V |
probably benign |
Het |
| Wdr73 |
A |
G |
7: 80,547,694 (GRCm39) |
M110T |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,261,770 (GRCm39) |
D111V |
probably damaging |
Het |
| Zscan4f |
T |
A |
7: 11,135,270 (GRCm39) |
N225K |
probably benign |
Het |
|
| Other mutations in Gucy2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01145:Gucy2d
|
APN |
7 |
98,099,170 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02093:Gucy2d
|
APN |
7 |
98,092,755 (GRCm39) |
nonsense |
probably null |
|
|
IGL02839:Gucy2d
|
APN |
7 |
98,093,196 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02904:Gucy2d
|
APN |
7 |
98,111,396 (GRCm39) |
splice site |
probably null |
|
|
IGL03349:Gucy2d
|
APN |
7 |
98,099,048 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0025:Gucy2d
|
UTSW |
7 |
98,116,959 (GRCm39) |
missense |
probably benign |
|
|
R0362:Gucy2d
|
UTSW |
7 |
98,092,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Gucy2d
|
UTSW |
7 |
98,108,209 (GRCm39) |
splice site |
probably null |
|
|
R0381:Gucy2d
|
UTSW |
7 |
98,108,209 (GRCm39) |
splice site |
probably null |
|
|
R0507:Gucy2d
|
UTSW |
7 |
98,108,209 (GRCm39) |
splice site |
probably null |
|
|
R0890:Gucy2d
|
UTSW |
7 |
98,122,472 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1720:Gucy2d
|
UTSW |
7 |
98,126,437 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1721:Gucy2d
|
UTSW |
7 |
98,103,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1867:Gucy2d
|
UTSW |
7 |
98,103,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1868:Gucy2d
|
UTSW |
7 |
98,103,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1884:Gucy2d
|
UTSW |
7 |
98,100,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1913:Gucy2d
|
UTSW |
7 |
98,093,054 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2351:Gucy2d
|
UTSW |
7 |
98,113,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4683:Gucy2d
|
UTSW |
7 |
98,102,650 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5079:Gucy2d
|
UTSW |
7 |
98,107,475 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5285:Gucy2d
|
UTSW |
7 |
98,107,474 (GRCm39) |
splice site |
probably null |
|
|
R5433:Gucy2d
|
UTSW |
7 |
98,098,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Gucy2d
|
UTSW |
7 |
98,101,090 (GRCm39) |
missense |
probably benign |
|
|
R6148:Gucy2d
|
UTSW |
7 |
98,093,030 (GRCm39) |
missense |
probably benign |
|
|
R6468:Gucy2d
|
UTSW |
7 |
98,099,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6909:Gucy2d
|
UTSW |
7 |
98,116,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7400:Gucy2d
|
UTSW |
7 |
98,092,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7483:Gucy2d
|
UTSW |
7 |
98,098,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Gucy2d
|
UTSW |
7 |
98,100,876 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7903:Gucy2d
|
UTSW |
7 |
98,108,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8277:Gucy2d
|
UTSW |
7 |
98,092,682 (GRCm39) |
missense |
probably benign |
|
|
R8412:Gucy2d
|
UTSW |
7 |
98,093,046 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8466:Gucy2d
|
UTSW |
7 |
98,099,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8520:Gucy2d
|
UTSW |
7 |
98,121,513 (GRCm39) |
missense |
probably null |
1.00 |
|
R8715:Gucy2d
|
UTSW |
7 |
98,093,319 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8765:Gucy2d
|
UTSW |
7 |
98,108,347 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8824:Gucy2d
|
UTSW |
7 |
98,092,676 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9165:Gucy2d
|
UTSW |
7 |
98,103,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9252:Gucy2d
|
UTSW |
7 |
98,116,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9502:Gucy2d
|
UTSW |
7 |
98,107,942 (GRCm39) |
missense |
probably benign |
|
|
R9660:Gucy2d
|
UTSW |
7 |
98,099,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9699:Gucy2d
|
UTSW |
7 |
98,108,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Gucy2d
|
UTSW |
7 |
98,123,868 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9736:Gucy2d
|
UTSW |
7 |
98,092,683 (GRCm39) |
nonsense |
probably null |
|
|
R9773:Gucy2d
|
UTSW |
7 |
98,099,048 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
RF030:Gucy2d
|
UTSW |
7 |
98,108,241 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Gucy2d
|
UTSW |
7 |
98,108,248 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Gucy2d
|
UTSW |
7 |
98,108,250 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation