Incidental Mutation 'IGL01145:Gucy2d'
ID |
51663 |
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 # |
IGL01145
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
98089623-98126685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98099170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 329
(S329T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
AlphaFold |
A0A0U1RPR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098274
AA Change: S329T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000095875 Gene: ENSMUSG00000074003 AA Change: S329T
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 |
probably benign
Transcript: ENSMUST00000206435
AA Change: S330T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
C |
7: 78,749,030 (GRCm39) |
D1267A |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,801,418 (GRCm39) |
|
probably null |
Het |
Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
C8b |
A |
T |
4: 104,637,777 (GRCm39) |
Y83F |
probably benign |
Het |
Capn15 |
A |
G |
17: 26,182,024 (GRCm39) |
V595A |
probably damaging |
Het |
Cbx1 |
A |
T |
11: 96,692,392 (GRCm39) |
D93V |
probably benign |
Het |
Cyp2c66 |
G |
T |
19: 39,159,405 (GRCm39) |
E285D |
probably benign |
Het |
Dkk4 |
T |
A |
8: 23,115,402 (GRCm39) |
V84D |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 117,937,999 (GRCm39) |
I3343F |
possibly damaging |
Het |
Dus3l |
T |
C |
17: 57,074,627 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
C |
4: 58,811,501 (GRCm39) |
D1467E |
probably null |
Het |
Eif6 |
A |
G |
2: 155,668,355 (GRCm39) |
|
probably benign |
Het |
Eya3 |
A |
G |
4: 132,437,306 (GRCm39) |
I389V |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,031,998 (GRCm39) |
D95E |
unknown |
Het |
Hook3 |
C |
T |
8: 26,549,372 (GRCm39) |
M157I |
probably benign |
Het |
Iapp |
C |
A |
6: 142,249,090 (GRCm39) |
R48S |
probably damaging |
Het |
Ints11 |
A |
G |
4: 155,969,583 (GRCm39) |
Y153C |
probably damaging |
Het |
Layn |
G |
A |
9: 50,985,346 (GRCm39) |
T62I |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,744,631 (GRCm39) |
H876R |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,317,396 (GRCm39) |
I840T |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,762,658 (GRCm39) |
F796L |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,545,629 (GRCm39) |
S1300P |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,093,847 (GRCm39) |
I602N |
probably damaging |
Het |
Omt2a |
T |
C |
9: 78,220,238 (GRCm39) |
M64V |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,038,809 (GRCm39) |
S2025P |
probably damaging |
Het |
Pemt |
A |
G |
11: 59,874,293 (GRCm39) |
L62P |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,576,971 (GRCm39) |
V399A |
probably benign |
Het |
Rasgrp4 |
T |
C |
7: 28,850,898 (GRCm39) |
S77P |
possibly damaging |
Het |
Rrm2b |
G |
A |
15: 37,944,804 (GRCm39) |
P111L |
probably damaging |
Het |
Slc10a4-ps |
A |
T |
5: 72,743,547 (GRCm39) |
|
probably null |
Het |
Thap12 |
A |
G |
7: 98,362,110 (GRCm39) |
*121W |
probably null |
Het |
Tnik |
A |
G |
3: 28,658,316 (GRCm39) |
|
probably benign |
Het |
Trio |
G |
A |
15: 27,818,253 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,310,407 (GRCm39) |
E930G |
probably damaging |
Het |
Zfp335 |
G |
T |
2: 164,749,422 (GRCm39) |
T299K |
probably benign |
Het |
|
Other mutations in Gucy2d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL03253:Gucy2d
|
APN |
7 |
98,100,871 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
2013-06-21 |