Incidental Mutation 'IGL02805:Htr5b'
ID 360387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr5b
Ensembl Gene ENSMUSG00000050534
Gene Name 5-hydroxytryptamine (serotonin) receptor 5B
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02805
Quality Score
Status
Chromosome 1
Chromosomal Location 121437571-121456194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121455617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 101 (V101A)
Ref Sequence ENSEMBL: ENSMUSP00000057212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055884]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000055884
AA Change: V101A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057212
Gene: ENSMUSG00000050534
AA Change: V101A

DomainStartEndE-ValueType
low complexity region 16 38 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 62 366 1e-7 PFAM
Pfam:7tm_1 69 351 1.7e-66 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign Het
Other mutations in Htr5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Htr5b APN 1 121,455,774 (GRCm39) missense possibly damaging 0.66
IGL02375:Htr5b APN 1 121,455,564 (GRCm39) missense probably damaging 1.00
IGL02991:Htr5b UTSW 1 121,455,756 (GRCm39) missense probably benign 0.12
R0387:Htr5b UTSW 1 121,455,275 (GRCm39) missense probably damaging 1.00
R1650:Htr5b UTSW 1 121,455,891 (GRCm39) missense probably benign
R1747:Htr5b UTSW 1 121,455,647 (GRCm39) missense probably damaging 1.00
R2203:Htr5b UTSW 1 121,455,693 (GRCm39) missense probably damaging 1.00
R5492:Htr5b UTSW 1 121,455,387 (GRCm39) missense possibly damaging 0.89
R6782:Htr5b UTSW 1 121,438,227 (GRCm39) missense probably benign 0.00
R7007:Htr5b UTSW 1 121,438,223 (GRCm39) missense probably damaging 1.00
R7249:Htr5b UTSW 1 121,438,203 (GRCm39) missense probably damaging 1.00
R7317:Htr5b UTSW 1 121,438,157 (GRCm39) missense probably damaging 1.00
R7749:Htr5b UTSW 1 121,455,487 (GRCm39) missense probably damaging 0.97
R8186:Htr5b UTSW 1 121,456,108 (GRCm39) start gained probably benign
R9079:Htr5b UTSW 1 121,455,816 (GRCm39) missense probably benign 0.00
R9369:Htr5b UTSW 1 121,455,482 (GRCm39) missense possibly damaging 0.89
R9659:Htr5b UTSW 1 121,455,428 (GRCm39) missense possibly damaging 0.81
Z1177:Htr5b UTSW 1 121,455,468 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18