Incidental Mutation 'R8466:Gucy2d'
ID 656831
Institutional Source Beutler Lab
Gene Symbol Gucy2d
Ensembl Gene ENSMUSG00000074003
Gene Name guanylate cyclase 2d
Synonyms guanylyl cyclase D
MMRRC Submission 067910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8466 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 98089623-98126685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98099237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 351 (P351Q)
Ref Sequence ENSEMBL: ENSMUSP00000095875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098274] [ENSMUST00000206435]
AlphaFold A0A0U1RPR8
Predicted Effect probably damaging
Transcript: ENSMUST00000098274
AA Change: P351Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: P351Q

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: P352Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,873 (GRCm39) E94G probably benign Het
Abhd16a G T 17: 35,313,236 (GRCm39) R118L probably damaging Het
Adamts1 A G 16: 85,599,400 (GRCm39) S67P probably benign Het
Adar C T 3: 89,658,466 (GRCm39) P656L probably damaging Het
Afg3l1 G A 8: 124,216,648 (GRCm39) D296N probably benign Het
Akap9 G A 5: 4,088,659 (GRCm39) R2096Q probably damaging Het
Aldh1a2 T A 9: 71,160,205 (GRCm39) I77K probably benign Het
Cacnb4 A C 2: 52,354,679 (GRCm39) V233G probably damaging Het
Cage1 T A 13: 38,206,987 (GRCm39) Q286L probably damaging Het
Camta1 T A 4: 151,170,577 (GRCm39) K1055* probably null Het
Ccdc96 C A 5: 36,642,252 (GRCm39) probably benign Het
Cep70 T C 9: 99,160,073 (GRCm39) probably null Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Ddx24 G T 12: 103,376,160 (GRCm39) L779I probably benign Het
Dock7 T C 4: 98,952,336 (GRCm39) E378G possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Flnc A G 6: 29,438,621 (GRCm39) N172D probably damaging Het
Gprin3 C A 6: 59,331,466 (GRCm39) Q280H possibly damaging Het
Gprin3 T A 6: 59,331,467 (GRCm39) Q280L probably benign Het
H2-M11 G A 17: 36,858,985 (GRCm39) G175D probably benign Het
Klhl42 C T 6: 147,009,241 (GRCm39) T360M probably benign Het
Lama1 G A 17: 68,120,948 (GRCm39) E2695K Het
Lsg1 T C 16: 30,400,919 (GRCm39) Q130R probably benign Het
Macf1 T C 4: 123,349,237 (GRCm39) T2100A probably benign Het
Muc16 T C 9: 18,554,444 (GRCm39) T3950A unknown Het
Myo1c G A 11: 75,549,213 (GRCm39) R109H probably damaging Het
Nol4 C A 18: 23,171,638 (GRCm39) A8S probably benign Het
Or1e1f A T 11: 73,855,913 (GRCm39) T160S probably damaging Het
Or1p1b A G 11: 74,131,016 (GRCm39) I209V probably benign Het
Pabpn1l C T 8: 123,347,625 (GRCm39) V216M possibly damaging Het
Papln A C 12: 83,825,255 (GRCm39) probably null Het
Pcsk5 A T 19: 17,549,864 (GRCm39) C709* probably null Het
Pglyrp3 T A 3: 91,921,941 (GRCm39) V3E probably benign Het
Pla2g4f T C 2: 120,130,963 (GRCm39) N831D probably damaging Het
Prp2rt T C 13: 97,235,492 (GRCm39) D85G probably damaging Het
Prss22 T C 17: 24,215,802 (GRCm39) D40G probably benign Het
Rap1gap2 A G 11: 74,316,057 (GRCm39) F208S probably benign Het
Sipa1l2 A T 8: 126,218,985 (GRCm39) N117K probably damaging Het
Srsf9 G C 5: 115,465,492 (GRCm39) R42P probably benign Het
Stat3 A T 11: 100,785,924 (GRCm39) I451N probably damaging Het
Tecrl A T 5: 83,428,367 (GRCm39) Y301* probably null Het
Togaram1 T C 12: 65,033,216 (GRCm39) S1065P probably benign Het
Usp48 T A 4: 137,350,630 (GRCm39) L39Q probably null Het
Utp20 A T 10: 88,654,365 (GRCm39) S241T probably damaging Het
Vmn2r50 A G 7: 9,783,997 (GRCm39) F159S probably damaging Het
Wdr76 A C 2: 121,341,038 (GRCm39) N28H probably damaging Het
Zfhx2 T A 14: 55,310,353 (GRCm39) Y731F possibly damaging Het
Zfhx4 A T 3: 5,307,762 (GRCm39) E329D probably damaging Het
Zswim8 A T 14: 20,760,744 (GRCm39) Q83L possibly damaging 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
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
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'- TGGTTCTGTGCATGCACTCG -3'
(R):5'- AAGCCCATATCTAGGGCTAGG -3'

Sequencing Primer
(F):5'- GACGGAAGGCTGGTCTTC -3'
(R):5'- CATATCTAGGGCTAGGCAGGC -3'
Posted On 2021-01-18