Incidental Mutation 'R7903:Gucy2d'
ID610087
Institutional Source Beutler Lab
Gene Symbol Gucy2d
Ensembl Gene ENSMUSG00000074003
Gene Nameguanylate cyclase 2d
Synonymsguanylyl cyclase D
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R7903 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location98440416-98477479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98459065 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 735 (D735G)
Ref Sequence ENSEMBL: ENSMUSP00000146093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098274] [ENSMUST00000206435]
Predicted Effect probably damaging
Transcript: ENSMUST00000098274
AA Change: D734G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: D734G

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 damaging
Transcript: ENSMUST00000206435
AA Change: D735G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik T C 18: 24,475,726 probably null Het
Acsm2 A T 7: 119,595,992 T596S probably benign Het
Aggf1 T C 13: 95,356,458 K548E probably damaging Het
Anapc15 T G 7: 101,897,986 V23G probably benign Het
Atp10a T C 7: 58,658,822 L123P probably damaging Het
Brf2 G A 8: 27,126,093 T88M possibly damaging Het
C1ra G A 6: 124,517,725 E316K probably benign Het
Ccdc14 A T 16: 34,704,910 H191L probably damaging Het
Cdc42bpg T A 19: 6,313,469 V453E possibly damaging Het
Corin T C 5: 72,301,500 K1110E probably benign Het
Cubn T C 2: 13,468,869 D421G probably damaging Het
D130043K22Rik T G 13: 24,876,012 V622G probably damaging Het
Ddb1 T C 19: 10,608,348 V142A probably benign Het
Dnah3 A G 7: 120,042,128 S1190P probably damaging Het
Elavl1 T C 8: 4,301,756 K120R probably benign Het
Epb41l3 T A 17: 69,274,337 probably null Het
Fubp1 G A 3: 152,214,861 W79* probably null Het
Gm1673 T A 5: 33,983,566 probably null Het
Gm4869 T C 5: 140,476,012 V523A probably damaging Het
Gm5580 A G 6: 116,551,251 T30A probably benign Het
Gsto2 T A 19: 47,884,657 I157N possibly damaging Het
H2-D1 A T 17: 35,263,991 I166F probably damaging Het
Hars2 C A 18: 36,786,192 R128S probably damaging Het
Igf1r T C 7: 68,184,752 F496S probably damaging Het
Inf2 T C 12: 112,612,554 V1256A unknown Het
Krt34 A T 11: 100,041,495 M1K probably null Het
Lamtor2 T C 3: 88,552,510 N26D possibly damaging Het
Map3k10 T C 7: 27,657,957 T799A probably damaging Het
Map3k8 T C 18: 4,349,162 D52G probably benign Het
Mcm10 T C 2: 4,995,802 T693A probably benign Het
Mgarp G T 3: 51,396,698 A10E Het
Mns1 A T 9: 72,452,811 E414D probably benign Het
Myo16 A G 8: 10,376,265 S341G probably null Het
Nags A T 11: 102,146,677 D198V possibly damaging Het
Nedd4l C T 18: 65,186,367 P464S probably damaging Het
Nsfl1c T C 2: 151,496,602 Y42H probably damaging Het
Obscn T C 11: 59,079,116 M67V probably benign Het
Olfr1367 T A 13: 21,347,876 I316K probably benign Het
Pcsk5 A T 19: 17,572,483 L715Q probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,709,168 probably benign Het
Pfkfb4 A T 9: 108,998,951 N64Y probably damaging Het
Pidd1 A G 7: 141,439,831 F673L probably damaging Het
Pla2g7 A G 17: 43,600,621 probably null Het
Pml T C 9: 58,249,584 E36G probably benign Het
Proser1 C A 3: 53,479,082 S795* probably null Het
Ptprs T A 17: 56,424,960 K1016* probably null Het
Rbfox1 T A 16: 7,224,511 S76R probably benign Het
Reck A T 4: 43,927,166 I486F possibly damaging Het
Rnf103 A T 6: 71,509,154 K256N probably damaging Het
Setd2 A T 9: 110,617,837 N713I Het
Slc38a4 C T 15: 97,008,928 G310S probably benign Het
Slc7a4 C T 16: 17,575,281 R218H probably benign Het
Slc7a7 T C 14: 54,373,909 H344R probably damaging Het
Smarcc1 G A 9: 110,204,266 E810K probably benign Het
Sord T A 2: 122,263,225 M275K probably benign Het
Spire2 C A 8: 123,368,750 P631T probably benign Het
Sult6b1 T C 17: 78,890,850 K207R probably benign Het
Syde2 T A 3: 145,998,788 D498E probably damaging Het
Syne2 C T 12: 76,064,184 T1024M probably damaging Het
Tdrd9 T A 12: 112,051,976 D1276E possibly damaging Het
Tm7sf2 A G 19: 6,071,335 F219S probably damaging Het
Tmcc2 C T 1: 132,360,461 G496D probably benign Het
Tmtc4 G A 14: 122,927,648 H600Y probably benign Het
Vmn1r224 A T 17: 20,420,047 L295F probably benign Het
Vmn1r91 T C 7: 20,101,210 I18T possibly damaging Het
Vwa7 G A 17: 35,017,787 R110H probably damaging Het
Wbp2nl C T 15: 82,306,131 Q87* probably null 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
IGL03349:Gucy2d APN 7 98449841 missense possibly damaging 0.75
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
R8277:Gucy2d UTSW 7 98443475 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- CCACAGTACCCCACAGTTTCTG -3'
(R):5'- TCTCACCGTTAGGCTTTAGGC -3'

Sequencing Primer
(F):5'- GGACCTAGAACTGATGACTTTTCTGC -3'
(R):5'- CACCGTTAGGCTTTAGGCATGTG -3'
Posted On2019-12-20