Incidental Mutation 'IGL03349:Gucy2d'
ID419635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2d
Ensembl Gene ENSMUSG00000074003
Gene Nameguanylate cyclase 2d
Synonymsguanylyl cyclase D
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL03349
Quality Score
Status
Chromosome7
Chromosomal Location98440416-98477479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98449841 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 288 (V288A)
Ref Sequence ENSEMBL: ENSMUSP00000095875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098274] [ENSMUST00000206435]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098274
AA Change: V288A

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: V288A

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 possibly damaging
Transcript: ENSMUST00000206435
AA Change: V289A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Gucy2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Gucy2d APN 7 98449963 missense probably benign 0.03
IGL02093:Gucy2d APN 7 98443548 nonsense probably null
IGL02839:Gucy2d APN 7 98443989 missense possibly damaging 0.81
IGL02904:Gucy2d APN 7 98462189 splice site probably null
IGL03253:Gucy2d APN 7 98451664 missense probably benign 0.03
R0025:Gucy2d UTSW 7 98467752 missense probably benign
R0362:Gucy2d UTSW 7 98443685 missense probably damaging 1.00
R0379:Gucy2d UTSW 7 98459002 splice site probably null
R0381:Gucy2d UTSW 7 98459002 splice site probably null
R0507:Gucy2d UTSW 7 98459002 splice site probably null
R0890:Gucy2d UTSW 7 98473265 missense probably benign 0.43
R1720:Gucy2d UTSW 7 98477230 missense probably benign 0.28
R1721:Gucy2d UTSW 7 98454061 missense probably damaging 0.99
R1867:Gucy2d UTSW 7 98454061 missense probably damaging 0.99
R1868:Gucy2d UTSW 7 98454061 missense probably damaging 0.99
R1884:Gucy2d UTSW 7 98451608 missense probably benign 0.00
R1913:Gucy2d UTSW 7 98443847 missense probably benign 0.14
R2351:Gucy2d UTSW 7 98464019 missense probably benign 0.02
R4683:Gucy2d UTSW 7 98453443 missense probably benign 0.33
R5079:Gucy2d UTSW 7 98458268 critical splice acceptor site probably null
R5285:Gucy2d UTSW 7 98458267 splice site probably null
R5433:Gucy2d UTSW 7 98449775 missense probably damaging 1.00
R5859:Gucy2d UTSW 7 98451883 missense probably benign
R6148:Gucy2d UTSW 7 98443823 missense probably benign
R6468:Gucy2d UTSW 7 98449961 missense probably benign 0.00
R6909:Gucy2d UTSW 7 98467625 missense probably damaging 0.99
R7400:Gucy2d UTSW 7 98443640 missense possibly damaging 0.95
R7483:Gucy2d UTSW 7 98449757 missense probably damaging 1.00
R7707:Gucy2d UTSW 7 98451669 missense possibly damaging 0.75
R7903:Gucy2d UTSW 7 98459065 missense probably damaging 1.00
R8277:Gucy2d UTSW 7 98443475 missense probably benign
R8412:Gucy2d UTSW 7 98443839 missense possibly damaging 0.84
R8466:Gucy2d UTSW 7 98450030 missense probably damaging 0.98
R8520:Gucy2d UTSW 7 98472306 missense probably null 1.00
R8715:Gucy2d UTSW 7 98444112 missense probably benign 0.05
R8765:Gucy2d UTSW 7 98459140 missense probably benign 0.13
R8824:Gucy2d UTSW 7 98443469 missense possibly damaging 0.59
RF030:Gucy2d UTSW 7 98459034 small insertion probably benign
RF055:Gucy2d UTSW 7 98459041 small insertion probably benign
RF064:Gucy2d UTSW 7 98459043 small insertion probably benign
Posted On2016-08-02