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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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