Incidental Mutation 'R1438:Gucy1b2'
ID 160807
Institutional Source Beutler Lab
Gene Symbol Gucy1b2
Ensembl Gene ENSMUSG00000021933
Gene Name guanylate cyclase 1, soluble, beta 2
Synonyms
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 62630125-62693738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62651770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 409 (I409V)
Ref Sequence ENSEMBL: ENSMUSP00000022501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000128573] [ENSMUST00000165651]
AlphaFold Q8BXH3
Predicted Effect probably damaging
Transcript: ENSMUST00000022501
AA Change: I409V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: I409V

DomainStartEndE-ValueType
Pfam:HNOB 83 244 6e-60 PFAM
Blast:CYCc 263 362 3e-24 BLAST
PDB:4GJ4|D 350 471 4e-8 PDB
CYCc 513 712 1.11e-108 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128573
SMART Domains Protein: ENSMUSP00000120329
Gene: ENSMUSG00000021933

DomainStartEndE-ValueType
Pfam:HNOB 1 167 1.5e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165651
AA Change: I394V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: I394V

DomainStartEndE-ValueType
Pfam:HNOB 82 250 1.1e-53 PFAM
Blast:CYCc 263 347 6e-25 BLAST
PDB:4GJ4|D 335 456 5e-8 PDB
CYCc 498 697 1.11e-108 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging Het
Other mutations in Gucy1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Gucy1b2 APN 14 62,643,694 (GRCm39) missense probably damaging 1.00
IGL00465:Gucy1b2 APN 14 62,640,649 (GRCm39) missense probably benign
IGL00756:Gucy1b2 APN 14 62,640,658 (GRCm39) missense probably benign
IGL01800:Gucy1b2 APN 14 62,649,104 (GRCm39) missense probably benign 0.03
IGL01875:Gucy1b2 APN 14 62,657,595 (GRCm39) missense probably damaging 1.00
IGL03033:Gucy1b2 APN 14 62,653,393 (GRCm39) missense probably benign 0.00
IGL03110:Gucy1b2 APN 14 62,671,283 (GRCm39) splice site probably benign
IGL02796:Gucy1b2 UTSW 14 62,645,143 (GRCm39) missense probably benign 0.42
R0183:Gucy1b2 UTSW 14 62,656,589 (GRCm39) missense probably damaging 1.00
R0605:Gucy1b2 UTSW 14 62,640,608 (GRCm39) splice site probably benign
R0815:Gucy1b2 UTSW 14 62,656,511 (GRCm39) missense probably benign 0.00
R0863:Gucy1b2 UTSW 14 62,656,511 (GRCm39) missense probably benign 0.00
R0972:Gucy1b2 UTSW 14 62,651,818 (GRCm39) missense possibly damaging 0.61
R0972:Gucy1b2 UTSW 14 62,646,127 (GRCm39) missense possibly damaging 0.88
R2011:Gucy1b2 UTSW 14 62,646,207 (GRCm39) missense probably damaging 0.99
R2409:Gucy1b2 UTSW 14 62,643,628 (GRCm39) frame shift probably null
R3692:Gucy1b2 UTSW 14 62,642,076 (GRCm39) missense probably damaging 1.00
R4484:Gucy1b2 UTSW 14 62,649,038 (GRCm39) missense possibly damaging 0.88
R4715:Gucy1b2 UTSW 14 62,660,466 (GRCm39) missense possibly damaging 0.95
R4730:Gucy1b2 UTSW 14 62,645,208 (GRCm39) missense probably damaging 1.00
R4812:Gucy1b2 UTSW 14 62,653,346 (GRCm39) splice site probably null
R4839:Gucy1b2 UTSW 14 62,685,695 (GRCm39) missense probably damaging 1.00
R5261:Gucy1b2 UTSW 14 62,642,028 (GRCm39) missense probably damaging 1.00
R5326:Gucy1b2 UTSW 14 62,690,779 (GRCm39) critical splice donor site probably null
R5656:Gucy1b2 UTSW 14 62,660,430 (GRCm39) missense probably damaging 1.00
R5779:Gucy1b2 UTSW 14 62,651,750 (GRCm39) missense possibly damaging 0.82
R6000:Gucy1b2 UTSW 14 62,656,499 (GRCm39) missense probably benign 0.00
R6274:Gucy1b2 UTSW 14 62,653,388 (GRCm39) missense probably damaging 1.00
R7457:Gucy1b2 UTSW 14 62,630,401 (GRCm39) missense probably benign 0.08
R7487:Gucy1b2 UTSW 14 62,685,672 (GRCm39) missense probably damaging 0.97
R7607:Gucy1b2 UTSW 14 62,656,626 (GRCm39) missense probably damaging 1.00
R8030:Gucy1b2 UTSW 14 62,630,319 (GRCm39) missense probably benign
R8285:Gucy1b2 UTSW 14 62,657,556 (GRCm39) missense probably damaging 0.98
R8287:Gucy1b2 UTSW 14 62,649,265 (GRCm39) missense probably damaging 1.00
R8970:Gucy1b2 UTSW 14 62,656,664 (GRCm39) missense possibly damaging 0.95
RF030:Gucy1b2 UTSW 14 62,646,090 (GRCm39) critical splice donor site probably benign
RF035:Gucy1b2 UTSW 14 62,646,090 (GRCm39) critical splice donor site probably benign
Z1177:Gucy1b2 UTSW 14 62,690,902 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCCTGGCTTGAGGGAAGTTGAAAAG -3'
(R):5'- TGGTTTGTAAAGGCCCTGAAGCAC -3'

Sequencing Primer
(F):5'- GGAAGTTGAAAAGCTGTCTTCCC -3'
(R):5'- AGAATGAAGATCTACTGGCCTTG -3'
Posted On 2014-03-14