Incidental Mutation 'R7903:Gucy2d'
ID 610087
Institutional Source Beutler Lab
Gene Symbol Gucy2d
Ensembl Gene ENSMUSG00000074003
Gene Name guanylate cyclase 2d
Synonyms guanylyl cyclase D
MMRRC Submission 045955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7903 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 98089623-98126685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98108272 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A0A0U1RPR8
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: 24,608,783 (GRCm39) probably null Het
Acsm2 A T 7: 119,195,215 (GRCm39) T596S probably benign Het
Aggf1 T C 13: 95,492,966 (GRCm39) K548E probably damaging Het
Anapc15 T G 7: 101,547,193 (GRCm39) V23G probably benign Het
Atp10a T C 7: 58,308,570 (GRCm39) L123P probably damaging Het
Brf2 G A 8: 27,616,121 (GRCm39) T88M possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc14 A T 16: 34,525,280 (GRCm39) H191L probably damaging Het
Cdc42bpg T A 19: 6,363,499 (GRCm39) V453E possibly damaging Het
Corin T C 5: 72,458,843 (GRCm39) K1110E probably benign Het
Cubn T C 2: 13,473,680 (GRCm39) D421G probably damaging Het
D130043K22Rik T G 13: 25,059,995 (GRCm39) V622G probably damaging Het
Ddb1 T C 19: 10,585,712 (GRCm39) V142A probably benign Het
Dnah3 A G 7: 119,641,351 (GRCm39) S1190P probably damaging Het
Eif4a3l2 A G 6: 116,528,212 (GRCm39) T30A probably benign Het
Elavl1 T C 8: 4,351,756 (GRCm39) K120R probably benign Het
Epb41l3 T A 17: 69,581,332 (GRCm39) probably null Het
Fubp1 G A 3: 151,920,498 (GRCm39) W79* probably null Het
Gsto2 T A 19: 47,873,096 (GRCm39) I157N possibly damaging Het
H2-D1 A T 17: 35,482,967 (GRCm39) I166F probably damaging Het
Hars2 C A 18: 36,919,245 (GRCm39) R128S probably damaging Het
Igf1r T C 7: 67,834,500 (GRCm39) F496S probably damaging Het
Inf2 T C 12: 112,578,988 (GRCm39) V1256A unknown Het
Kif19b T C 5: 140,461,767 (GRCm39) V523A probably damaging Het
Krt34 A T 11: 99,932,321 (GRCm39) M1K probably null Het
Lamtor2 T C 3: 88,459,817 (GRCm39) N26D possibly damaging Het
Map3k10 T C 7: 27,357,382 (GRCm39) T799A probably damaging Het
Map3k8 T C 18: 4,349,162 (GRCm39) D52G probably benign Het
Mcm10 T C 2: 5,000,613 (GRCm39) T693A probably benign Het
Mgarp G T 3: 51,304,119 (GRCm39) A10E Het
Mns1 A T 9: 72,360,093 (GRCm39) E414D probably benign Het
Myo16 A G 8: 10,426,265 (GRCm39) S341G probably null Het
Nags A T 11: 102,037,503 (GRCm39) D198V possibly damaging Het
Nedd4l C T 18: 65,319,438 (GRCm39) P464S probably damaging Het
Nicol1 T A 5: 34,140,910 (GRCm39) probably null Het
Nsfl1c T C 2: 151,338,522 (GRCm39) Y42H probably damaging Het
Obscn T C 11: 58,969,942 (GRCm39) M67V probably benign Het
Or2b28 T A 13: 21,532,046 (GRCm39) I316K probably benign Het
Pcsk5 A T 19: 17,549,847 (GRCm39) L715Q probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Pfkfb4 A T 9: 108,828,019 (GRCm39) N64Y probably damaging Het
Pidd1 A G 7: 141,019,744 (GRCm39) F673L probably damaging Het
Pla2g7 A G 17: 43,911,512 (GRCm39) probably null Het
Pml T C 9: 58,156,867 (GRCm39) E36G probably benign Het
Proser1 C A 3: 53,386,503 (GRCm39) S795* probably null Het
Ptprs T A 17: 56,731,960 (GRCm39) K1016* probably null Het
Rbfox1 T A 16: 7,042,375 (GRCm39) S76R probably benign Het
Reck A T 4: 43,927,166 (GRCm39) I486F possibly damaging Het
Rnf103 A T 6: 71,486,138 (GRCm39) K256N probably damaging Het
Setd2 A T 9: 110,446,905 (GRCm39) N713I Het
Slc38a4 C T 15: 96,906,809 (GRCm39) G310S probably benign Het
Slc7a4 C T 16: 17,393,145 (GRCm39) R218H probably benign Het
Slc7a7 T C 14: 54,611,366 (GRCm39) H344R probably damaging Het
Smarcc1 G A 9: 110,033,334 (GRCm39) E810K probably benign Het
Sord T A 2: 122,093,706 (GRCm39) M275K probably benign Het
Spire2 C A 8: 124,095,489 (GRCm39) P631T probably benign Het
Sult6b1 T C 17: 79,198,279 (GRCm39) K207R probably benign Het
Syde2 T A 3: 145,704,543 (GRCm39) D498E probably damaging Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Tdrd9 T A 12: 112,018,410 (GRCm39) D1276E possibly damaging Het
Tm7sf2 A G 19: 6,121,365 (GRCm39) F219S probably damaging Het
Tmcc2 C T 1: 132,288,199 (GRCm39) G496D probably benign Het
Tmtc4 G A 14: 123,165,060 (GRCm39) H600Y probably benign Het
Vmn1r224 A T 17: 20,640,309 (GRCm39) L295F probably benign Het
Vmn1r91 T C 7: 19,835,135 (GRCm39) I18T possibly damaging Het
Vwa7 G A 17: 35,236,763 (GRCm39) R110H probably damaging Het
Wbp2nl C T 15: 82,190,332 (GRCm39) Q87* probably null Het
Other mutations in Gucy2d
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CCACAGTACCCCACAGTTTCTG -3'
(R):5'- TCTCACCGTTAGGCTTTAGGC -3'

Sequencing Primer
(F):5'- GGACCTAGAACTGATGACTTTTCTGC -3'
(R):5'- CACCGTTAGGCTTTAGGCATGTG -3'
Posted On 2019-12-20