Incidental Mutation 'R5497:Gucy2g'
ID 432450
Institutional Source Beutler Lab
Gene Symbol Gucy2g
Ensembl Gene ENSMUSG00000055523
Gene Name guanylate cyclase 2g
Synonyms 2410077I05Rik, GC-G
MMRRC Submission 043058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5497 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 55186531-55229668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55187133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1096 (V1096I)
Ref Sequence ENSEMBL: ENSMUSP00000068253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025936] [ENSMUST00000069183] [ENSMUST00000120936]
AlphaFold Q6TL19
Predicted Effect probably benign
Transcript: ENSMUST00000025936
SMART Domains Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 283 3.47e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069183
AA Change: V1096I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: V1096I

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
Pfam:ANF_receptor 65 416 5.2e-36 PFAM
low complexity region 471 487 N/A INTRINSIC
Pfam:Pkinase 574 826 2e-26 PFAM
Pfam:Pkinase_Tyr 577 826 6e-35 PFAM
CYCc 865 1059 6.42e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120936
SMART Domains Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
ZP 31 293 1.9e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124545
SMART Domains Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979

DomainStartEndE-ValueType
Pfam:Zona_pellucida 3 116 5.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148123
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities and are protected against acute ischemia induced renal injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,056,360 (GRCm39) M800K probably benign Het
Abca9 G A 11: 110,021,518 (GRCm39) A1064V probably damaging Het
Acsm2 A T 7: 119,172,543 (GRCm39) T129S possibly damaging Het
Adamts9 A T 6: 92,831,346 (GRCm39) C755S probably damaging Het
Adarb1 T C 10: 77,161,723 (GRCm39) D2G probably damaging Het
Apaf1 G A 10: 90,835,518 (GRCm39) A1098V probably damaging Het
Asap3 A G 4: 135,966,533 (GRCm39) H537R probably benign Het
Atp2a2 C T 5: 122,596,232 (GRCm39) C887Y probably damaging Het
Atp6v0a1 G A 11: 100,920,011 (GRCm39) V215M probably damaging Het
Cacng8 A G 7: 3,464,069 (GRCm39) E407G probably benign Het
Capn8 G A 1: 182,447,745 (GRCm39) E535K probably benign Het
Cebpe A G 14: 54,948,052 (GRCm39) F264L probably benign Het
Ces1c A C 8: 93,857,343 (GRCm39) N79K possibly damaging Het
Cfap58 T G 19: 48,017,548 (GRCm39) S803A probably benign Het
Cpa1 A G 6: 30,640,729 (GRCm39) T124A probably benign Het
Csmd1 A G 8: 16,135,195 (GRCm39) S1654P probably benign Het
Dmbt1 A T 7: 130,665,133 (GRCm39) probably benign Het
Eif3e T C 15: 43,134,366 (GRCm39) Y127C probably damaging Het
Fhip2a G C 19: 57,369,583 (GRCm39) probably null Het
Galnt5 T C 2: 57,915,340 (GRCm39) M632T probably damaging Het
Gja8 A G 3: 96,827,513 (GRCm39) S50P probably damaging Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Gxylt2 A G 6: 100,764,290 (GRCm39) N325S probably benign Het
H2-Ob A G 17: 34,460,144 (GRCm39) D85G probably benign Het
Heatr1 T A 13: 12,435,945 (GRCm39) I1161N possibly damaging Het
Hjurp G A 1: 88,194,042 (GRCm39) H289Y possibly damaging Het
Hsd3b7 A G 7: 127,401,060 (GRCm39) Y99C probably damaging Het
Ifnar1 T G 16: 91,302,252 (GRCm39) Y21D probably benign Het
Isoc2b C T 7: 4,853,782 (GRCm39) V131I probably benign Het
Klc3 T C 7: 19,128,595 (GRCm39) I500V probably benign Het
Lrp5 C A 19: 3,652,319 (GRCm39) G1184W probably damaging Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Map3k7 T C 4: 31,991,719 (GRCm39) F319S possibly damaging Het
Muc5ac A G 7: 141,361,380 (GRCm39) T1564A probably damaging Het
Nptx2 A T 5: 144,492,999 (GRCm39) D362V probably damaging Het
Nutf2-ps1 A T 19: 53,577,265 (GRCm39) I52N probably damaging Het
Or2aj4 C T 16: 19,385,080 (GRCm39) M184I probably benign Het
Pkhd1 T A 1: 20,447,628 (GRCm39) Y2255F possibly damaging Het
Primpol A T 8: 47,045,657 (GRCm39) Y308* probably null Het
Retreg2 G A 1: 75,121,633 (GRCm39) V219I probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rph3a T A 5: 121,080,253 (GRCm39) E675V probably benign Het
Ryr2 A T 13: 11,720,587 (GRCm39) M2687K probably null Het
Shank2 A G 7: 143,963,271 (GRCm39) D293G probably damaging Het
Snx6 A G 12: 54,803,846 (GRCm39) V154A probably damaging Het
Srm G T 4: 148,678,566 (GRCm39) Q264H probably benign Het
Styk1 A T 6: 131,281,670 (GRCm39) I316N probably damaging Het
Syne2 A G 12: 75,927,163 (GRCm39) N103S probably benign Het
Tas2r105 G A 6: 131,663,805 (GRCm39) probably null Het
Tbcel T A 9: 42,363,041 (GRCm39) M1L possibly damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Tm9sf3 T C 19: 41,203,555 (GRCm39) S574G probably benign Het
Usp31 A T 7: 121,250,824 (GRCm39) V783E probably damaging Het
Vmn2r61 T A 7: 41,924,906 (GRCm39) Y487N possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp980 A G 4: 145,428,017 (GRCm39) K249E probably damaging Het
Other mutations in Gucy2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Gucy2g APN 19 55,221,535 (GRCm39) missense probably benign 0.01
IGL01954:Gucy2g APN 19 55,187,123 (GRCm39) missense probably benign 0.01
IGL01969:Gucy2g APN 19 55,215,870 (GRCm39) missense probably benign 0.00
IGL02164:Gucy2g APN 19 55,226,455 (GRCm39) missense probably benign
IGL02534:Gucy2g APN 19 55,229,500 (GRCm39) missense probably damaging 1.00
IGL02667:Gucy2g APN 19 55,194,609 (GRCm39) missense possibly damaging 0.64
IGL02755:Gucy2g APN 19 55,198,786 (GRCm39) missense probably benign 0.10
IGL03187:Gucy2g APN 19 55,219,484 (GRCm39) missense possibly damaging 0.91
IGL03354:Gucy2g APN 19 55,221,512 (GRCm39) missense possibly damaging 0.95
PIT4366001:Gucy2g UTSW 19 55,226,214 (GRCm39) missense probably null 0.51
R0040:Gucy2g UTSW 19 55,205,734 (GRCm39) missense possibly damaging 0.73
R0126:Gucy2g UTSW 19 55,229,598 (GRCm39) missense probably benign
R0318:Gucy2g UTSW 19 55,226,230 (GRCm39) missense probably benign 0.00
R0576:Gucy2g UTSW 19 55,187,202 (GRCm39) missense probably damaging 1.00
R0604:Gucy2g UTSW 19 55,191,519 (GRCm39) missense probably benign 0.00
R0962:Gucy2g UTSW 19 55,198,716 (GRCm39) nonsense probably null
R1348:Gucy2g UTSW 19 55,211,338 (GRCm39) missense possibly damaging 0.68
R1458:Gucy2g UTSW 19 55,203,468 (GRCm39) splice site probably benign
R1693:Gucy2g UTSW 19 55,211,358 (GRCm39) missense probably damaging 1.00
R1795:Gucy2g UTSW 19 55,187,973 (GRCm39) missense probably damaging 1.00
R1804:Gucy2g UTSW 19 55,198,741 (GRCm39) missense probably benign 0.34
R1830:Gucy2g UTSW 19 55,211,362 (GRCm39) missense possibly damaging 0.94
R1902:Gucy2g UTSW 19 55,198,669 (GRCm39) missense probably benign 0.20
R1927:Gucy2g UTSW 19 55,226,191 (GRCm39) missense probably benign 0.02
R1969:Gucy2g UTSW 19 55,221,485 (GRCm39) missense probably benign 0.42
R1969:Gucy2g UTSW 19 55,211,328 (GRCm39) missense possibly damaging 0.90
R2071:Gucy2g UTSW 19 55,210,772 (GRCm39) missense possibly damaging 0.72
R2842:Gucy2g UTSW 19 55,229,379 (GRCm39) missense probably damaging 1.00
R2971:Gucy2g UTSW 19 55,198,708 (GRCm39) missense probably damaging 1.00
R4202:Gucy2g UTSW 19 55,218,201 (GRCm39) missense possibly damaging 0.96
R4405:Gucy2g UTSW 19 55,226,269 (GRCm39) missense probably benign 0.08
R4407:Gucy2g UTSW 19 55,226,269 (GRCm39) missense probably benign 0.08
R4614:Gucy2g UTSW 19 55,190,579 (GRCm39) nonsense probably null
R4671:Gucy2g UTSW 19 55,226,500 (GRCm39) missense probably damaging 1.00
R4684:Gucy2g UTSW 19 55,194,688 (GRCm39) missense probably damaging 1.00
R4837:Gucy2g UTSW 19 55,214,485 (GRCm39) missense probably benign
R4969:Gucy2g UTSW 19 55,214,445 (GRCm39) missense probably benign
R5050:Gucy2g UTSW 19 55,229,367 (GRCm39) missense probably benign 0.05
R5059:Gucy2g UTSW 19 55,214,503 (GRCm39) missense probably benign 0.00
R5070:Gucy2g UTSW 19 55,218,219 (GRCm39) missense probably damaging 0.98
R5288:Gucy2g UTSW 19 55,203,548 (GRCm39) missense probably damaging 1.00
R5384:Gucy2g UTSW 19 55,203,548 (GRCm39) missense probably damaging 1.00
R5386:Gucy2g UTSW 19 55,203,548 (GRCm39) missense probably damaging 1.00
R5531:Gucy2g UTSW 19 55,229,572 (GRCm39) missense probably benign 0.24
R5536:Gucy2g UTSW 19 55,226,359 (GRCm39) missense probably benign 0.05
R5679:Gucy2g UTSW 19 55,219,511 (GRCm39) missense possibly damaging 0.87
R5715:Gucy2g UTSW 19 55,221,587 (GRCm39) missense possibly damaging 0.93
R5941:Gucy2g UTSW 19 55,203,563 (GRCm39) missense probably damaging 1.00
R6250:Gucy2g UTSW 19 55,205,856 (GRCm39) missense probably damaging 0.99
R6288:Gucy2g UTSW 19 55,215,945 (GRCm39) missense probably benign 0.01
R6378:Gucy2g UTSW 19 55,229,377 (GRCm39) missense probably benign 0.00
R6605:Gucy2g UTSW 19 55,229,460 (GRCm39) missense probably damaging 1.00
R7020:Gucy2g UTSW 19 55,221,482 (GRCm39) missense probably damaging 0.98
R7064:Gucy2g UTSW 19 55,198,764 (GRCm39) missense probably benign 0.01
R7078:Gucy2g UTSW 19 55,229,583 (GRCm39) missense probably damaging 1.00
R7402:Gucy2g UTSW 19 55,194,725 (GRCm39) missense probably damaging 1.00
R7539:Gucy2g UTSW 19 55,191,586 (GRCm39) missense probably damaging 0.99
R7561:Gucy2g UTSW 19 55,194,772 (GRCm39) missense probably benign 0.38
R7583:Gucy2g UTSW 19 55,224,047 (GRCm39) missense probably damaging 1.00
R7804:Gucy2g UTSW 19 55,216,584 (GRCm39) missense probably benign 0.02
R7880:Gucy2g UTSW 19 55,194,712 (GRCm39) missense probably damaging 1.00
R8442:Gucy2g UTSW 19 55,205,833 (GRCm39) missense probably benign 0.00
R8559:Gucy2g UTSW 19 55,198,786 (GRCm39) missense probably benign 0.10
R8970:Gucy2g UTSW 19 55,191,478 (GRCm39) missense possibly damaging 0.56
R8972:Gucy2g UTSW 19 55,226,406 (GRCm39) missense probably benign 0.17
R9085:Gucy2g UTSW 19 55,221,597 (GRCm39) nonsense probably null
R9390:Gucy2g UTSW 19 55,190,607 (GRCm39) missense probably null 1.00
R9462:Gucy2g UTSW 19 55,221,469 (GRCm39) critical splice donor site probably null
R9502:Gucy2g UTSW 19 55,198,816 (GRCm39) missense probably damaging 1.00
R9610:Gucy2g UTSW 19 55,194,605 (GRCm39) missense probably damaging 1.00
R9611:Gucy2g UTSW 19 55,194,605 (GRCm39) missense probably damaging 1.00
R9644:Gucy2g UTSW 19 55,219,537 (GRCm39) missense probably benign 0.05
Z1177:Gucy2g UTSW 19 55,198,809 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATCTAGTGGCGGGTCATTG -3'
(R):5'- GAAGGTCCATGAACTCACCAG -3'

Sequencing Primer
(F):5'- CGGGTCATTGATTCATTGACACAGAG -3'
(R):5'- GGTCCATGAACTCACCAGGATTTC -3'
Posted On 2016-10-05