Incidental Mutation 'IGL02874:Hdc'
ID 362633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdc
Ensembl Gene ENSMUSG00000027360
Gene Name histidine decarboxylase
Synonyms Hdc-s, Hdc-a, Hdc-c, Hdc-e, L-histidine decarboxylase
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.751) question?
Stock # IGL02874
Quality Score
Status
Chromosome 2
Chromosomal Location 126593667-126619299 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126601676 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 334 (T334S)
Ref Sequence ENSEMBL: ENSMUSP00000028838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028838]
AlphaFold P23738
Predicted Effect probably benign
Transcript: ENSMUST00000028838
AA Change: T334S

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: T334S

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:Pyridoxal_deC 43 421 2.2e-173 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138752
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mast cells, altered anxiety-related and nociceptive behavior, altered cognitive function, increased weight gain, visceral adiposity, increased amount of brown adipose tissue, impaired glucose tolerance, hyperinsulinemia, and hyperleptinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 59,802,252 Y876H probably damaging Het
Cfap65 G A 1: 74,911,108 Q1161* probably null Het
Chrd C T 16: 20,735,196 T282I probably damaging Het
Clasp1 T C 1: 118,552,043 S749P possibly damaging Het
Clec4a3 T A 6: 122,967,560 N188K probably benign Het
Dmpk A G 7: 19,087,001 M181V possibly damaging Het
Dnah7a A T 1: 53,605,814 M1021K possibly damaging Het
Exoc5 A T 14: 49,051,446 N48K probably benign Het
Golga1 A G 2: 39,039,092 L338P probably damaging Het
Idh2 A G 7: 80,097,873 S300P probably damaging Het
Igkv4-78 T C 6: 69,060,206 I7V probably benign Het
Impdh1 A T 6: 29,203,156 M389K probably damaging Het
Kcnd2 T A 6: 21,216,923 C209S probably damaging Het
Olfr661 C A 7: 104,688,023 Q3K probably benign Het
Olfr735 A T 14: 50,346,126 H105Q probably damaging Het
Olfr741 G T 14: 50,486,229 C257F possibly damaging Het
Ovol1 T C 19: 5,551,181 K194R probably damaging Het
Pcdh17 A T 14: 84,448,240 I716F possibly damaging Het
Pck1 T C 2: 173,155,249 I228T probably damaging Het
Pla2g2a T C 4: 138,834,848 F132L probably benign Het
Prex1 A G 2: 166,585,047 V1086A probably damaging Het
Rasd2 T C 8: 75,218,699 I52T probably damaging Het
Robo1 T C 16: 73,012,918 Y1185H probably damaging Het
Sema6c T G 3: 95,170,377 V441G probably damaging Het
Slc9a4 A T 1: 40,584,038 M146L probably benign Het
Thsd4 C T 9: 60,252,730 V358I probably damaging Het
Ttbk1 T C 17: 46,470,225 E474G probably benign Het
Ttbk2 T A 2: 120,745,712 D928V probably damaging Het
Ttn C T 2: 76,811,178 G11779S probably damaging Het
Wfdc6b T C 2: 164,617,448 probably null Het
Other mutations in Hdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Hdc APN 2 126601872 missense probably benign 0.00
IGL01024:Hdc APN 2 126603846 missense probably benign 0.32
IGL01393:Hdc APN 2 126594661 missense probably benign 0.28
IGL01802:Hdc APN 2 126603894 missense probably benign 0.04
IGL01958:Hdc APN 2 126594532 missense possibly damaging 0.87
IGL02193:Hdc APN 2 126601780 splice site probably benign
IGL02494:Hdc APN 2 126594121 missense probably benign
IGL02696:Hdc APN 2 126594300 missense probably damaging 1.00
R0453:Hdc UTSW 2 126594951 splice site probably benign
R0528:Hdc UTSW 2 126616232 missense probably benign 0.00
R1337:Hdc UTSW 2 126616276 missense probably benign
R1862:Hdc UTSW 2 126597933 missense probably benign 0.36
R1938:Hdc UTSW 2 126606397 missense possibly damaging 0.86
R1994:Hdc UTSW 2 126616187 missense probably damaging 1.00
R2230:Hdc UTSW 2 126594018 missense possibly damaging 0.65
R2257:Hdc UTSW 2 126616080 splice site probably null
R2921:Hdc UTSW 2 126593990 missense probably damaging 1.00
R2923:Hdc UTSW 2 126593990 missense probably damaging 1.00
R3620:Hdc UTSW 2 126616267 missense possibly damaging 0.86
R3621:Hdc UTSW 2 126616267 missense possibly damaging 0.86
R3914:Hdc UTSW 2 126603006 missense probably damaging 1.00
R4076:Hdc UTSW 2 126616261 missense possibly damaging 0.92
R4114:Hdc UTSW 2 126601818 missense probably benign 0.16
R4213:Hdc UTSW 2 126597866 splice site probably null
R4827:Hdc UTSW 2 126594313 missense probably benign
R4889:Hdc UTSW 2 126594133 missense probably benign 0.00
R5013:Hdc UTSW 2 126604300 missense probably benign 0.33
R5593:Hdc UTSW 2 126618584 utr 5 prime probably benign
R5604:Hdc UTSW 2 126594663 missense probably benign
R5637:Hdc UTSW 2 126616189 missense probably benign 0.02
R6211:Hdc UTSW 2 126593977 missense probably damaging 0.98
R6312:Hdc UTSW 2 126607406 missense possibly damaging 0.65
R7730:Hdc UTSW 2 126594082 missense possibly damaging 0.51
R7889:Hdc UTSW 2 126616210 missense probably damaging 1.00
R8328:Hdc UTSW 2 126601883 missense probably damaging 1.00
R8482:Hdc UTSW 2 126594205 missense probably benign
R8517:Hdc UTSW 2 126597970 critical splice acceptor site probably null
R9136:Hdc UTSW 2 126597866 splice site probably null
R9139:Hdc UTSW 2 126597917 missense probably damaging 1.00
R9208:Hdc UTSW 2 126594680 missense probably benign 0.32
R9515:Hdc UTSW 2 126616229 missense probably damaging 0.96
Posted On 2015-12-18