Incidental Mutation 'R9699:Gucy2d'
ID 729477
Institutional Source Beutler Lab
Gene Symbol Gucy2d
Ensembl Gene ENSMUSG00000074003
Gene Name guanylate cyclase 2d
Synonyms guanylyl cyclase D
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R9699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 98089623-98126685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98108290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 741 (I741N)
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: I740N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: I740N

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: I741N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik G T 1: 57,416,927 (GRCm39) R33L probably benign Het
Abhd16b A T 2: 181,136,518 (GRCm39) R473S probably benign Het
Adcyap1r1 A G 6: 55,474,140 (GRCm39) D492G probably damaging Het
Ano5 A T 7: 51,229,309 (GRCm39) N617I probably damaging Het
Cdh15 A G 8: 123,588,769 (GRCm39) E281G probably benign Het
Clasp2 T A 9: 113,738,614 (GRCm39) probably null Het
Dock8 G A 19: 25,133,388 (GRCm39) probably null Het
Dscaml1 T C 9: 45,654,315 (GRCm39) V1449A probably damaging Het
Ercc6 A G 14: 32,282,703 (GRCm39) D732G probably damaging Het
Fam174c T A 10: 80,010,161 (GRCm39) probably null Het
Fhip2b A T 14: 70,825,179 (GRCm39) S386T possibly damaging Het
Gimap6 T C 6: 48,684,951 (GRCm39) E45G probably benign Het
Glt1d1 C A 5: 127,771,364 (GRCm39) T285K probably damaging Het
Gm14412 A T 2: 177,007,636 (GRCm39) Y86* probably null Het
Grip2 A G 6: 91,742,318 (GRCm39) S912P probably benign Het
Hrh2 A T 13: 54,368,299 (GRCm39) N92Y probably damaging Het
Klrc2 T A 6: 129,637,452 (GRCm39) Q23L possibly damaging Het
Patl2 T C 2: 121,955,591 (GRCm39) D285G probably damaging Het
Prpf40a A G 2: 53,035,735 (GRCm39) V685A probably benign Het
Rspry1 A G 8: 95,380,857 (GRCm39) H511R probably benign Het
Scarb1 G T 5: 125,374,296 (GRCm39) A279E probably damaging Het
Sell A G 1: 163,893,114 (GRCm39) E110G probably damaging Het
Sftpc A T 14: 70,760,143 (GRCm39) I38N probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc5a4b C A 10: 75,946,674 (GRCm39) V33F probably damaging Het
Smad7 A G 18: 75,527,161 (GRCm39) S336G probably damaging Het
Tnpo3 C T 6: 29,565,768 (GRCm39) V529I probably benign Het
Trafd1 A G 5: 121,517,727 (GRCm39) V22A probably benign Het
Tssk1 A G 16: 17,712,545 (GRCm39) E110G probably damaging Het
Vmn1r159 A T 7: 22,542,675 (GRCm39) V119D probably damaging Het
Vmn1r191 A G 13: 22,363,355 (GRCm39) F133S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp830 C T 11: 82,655,805 (GRCm39) T203I possibly damaging Het
Zw10 G T 9: 48,966,942 (GRCm39) probably benign 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
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
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'- TTCTGCTCTGGAAGAACCTG -3'
(R):5'- GTGTGAGCTGCTACAGACAG -3'

Sequencing Primer
(F):5'- TGGAAGAACCTGAGGCCCTTAAC -3'
(R):5'- TTAAGGCAAGGAGACCCAGTTCTC -3'
Posted On 2022-10-06