Incidental Mutation 'R0453:Hdc'
ID 39743
Institutional Source Beutler Lab
Gene Symbol Hdc
Ensembl Gene ENSMUSG00000027360
Gene Name histidine decarboxylase
Synonyms Hdc-s, Hdc-a, L-histidine decarboxylase, Hdc-e, Hdc-c
MMRRC Submission 038653-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # R0453 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126435587-126461219 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 126436871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028838]
AlphaFold P23738
Predicted Effect probably benign
Transcript: ENSMUST00000028838
SMART Domains Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,765,445 (GRCm39) K843* probably null Het
Adam26b T C 8: 43,973,387 (GRCm39) I538M probably benign Het
Adamtsl1 T C 4: 86,150,852 (GRCm39) Y337H probably damaging Het
Ak7 T C 12: 105,682,307 (GRCm39) M156T probably damaging Het
Aldh3a1 A G 11: 61,106,338 (GRCm39) M238V probably benign Het
Asic4 T A 1: 75,450,155 (GRCm39) probably benign Het
AW551984 A G 9: 39,511,937 (GRCm39) S25P probably damaging Het
Bbs7 T A 3: 36,661,818 (GRCm39) Y127F possibly damaging Het
Bco1 G A 8: 117,835,516 (GRCm39) E156K possibly damaging Het
Becn1 T C 11: 101,181,275 (GRCm39) D342G probably damaging Het
Birc6 T A 17: 74,956,749 (GRCm39) I3575N probably damaging Het
Brd10 T C 19: 29,731,068 (GRCm39) Y715C probably damaging Het
Cc2d2a A T 5: 43,860,636 (GRCm39) M522L probably benign Het
Cerkl A G 2: 79,172,795 (GRCm39) F293L probably benign Het
Chil3 T G 3: 106,056,221 (GRCm39) N311T probably benign Het
Cpeb2 T A 5: 43,443,056 (GRCm39) probably benign Het
Cpxm2 A G 7: 131,730,134 (GRCm39) S162P probably damaging Het
Cracr2b A C 7: 141,044,176 (GRCm39) E136A probably damaging Het
Cyp2a4 T A 7: 26,012,258 (GRCm39) M347K probably benign Het
Dicer1 C A 12: 104,668,889 (GRCm39) R1264S probably benign Het
Dlgap1 T A 17: 71,068,341 (GRCm39) N609K probably benign Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egfl8 T C 17: 34,833,856 (GRCm39) Y74C probably damaging Het
Esyt1 A G 10: 128,348,078 (GRCm39) S901P probably benign Het
Fam83e A T 7: 45,373,372 (GRCm39) D246V probably damaging Het
Galnt2 T C 8: 125,065,323 (GRCm39) probably benign Het
Herc1 A C 9: 66,307,054 (GRCm39) Q958P probably benign Het
Iqcg T A 16: 32,870,213 (GRCm39) probably benign Het
Iqub A T 6: 24,450,829 (GRCm39) F590Y probably damaging Het
Jak2 T C 19: 29,289,238 (GRCm39) I1130T probably benign Het
Kbtbd11 G A 8: 15,077,499 (GRCm39) A33T probably benign Het
Kcnip4 A G 5: 48,667,054 (GRCm39) L37P probably damaging Het
Klk6 A G 7: 43,477,963 (GRCm39) N112D probably damaging Het
Kmt2c G A 5: 25,559,745 (GRCm39) T1011I probably damaging Het
Knl1 A T 2: 118,898,869 (GRCm39) K190M probably damaging Het
Lama3 T A 18: 12,598,535 (GRCm39) S981T possibly damaging Het
Lrrc18 T C 14: 32,730,608 (GRCm39) L49P probably damaging Het
Lrrc31 T C 3: 30,741,674 (GRCm39) E245G probably damaging Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Macf1 T C 4: 123,338,737 (GRCm39) I2456M probably benign Het
Mcm6 T A 1: 128,261,292 (GRCm39) T771S probably benign Het
Met A C 6: 17,534,197 (GRCm39) Y680S possibly damaging Het
Mixl1 T A 1: 180,524,211 (GRCm39) T123S probably damaging Het
Myh8 A T 11: 67,183,731 (GRCm39) I787F probably benign Het
Myocd A G 11: 65,087,051 (GRCm39) F292S probably damaging Het
Neb T C 2: 52,203,902 (GRCm39) probably null Het
Nfe2l1 A G 11: 96,718,194 (GRCm39) S114P probably damaging Het
Nrxn2 T C 19: 6,541,551 (GRCm39) S986P probably damaging Het
Oprl1 T C 2: 181,360,527 (GRCm39) probably null Het
Or11h6 T C 14: 50,880,461 (GRCm39) V241A possibly damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
Or5b101 T G 19: 13,005,295 (GRCm39) T133P probably damaging Het
Or6c8 A G 10: 128,915,640 (GRCm39) F64S probably damaging Het
Or8b53 G A 9: 38,667,425 (GRCm39) G147D probably damaging Het
Or8c9 A T 9: 38,241,467 (GRCm39) T195S probably benign Het
Panx2 T A 15: 88,952,610 (GRCm39) I359N probably damaging Het
Pik3c2b T A 1: 133,005,134 (GRCm39) V545E probably damaging Het
Piwil4 T C 9: 14,638,748 (GRCm39) N259S probably benign Het
Plcxd2 A T 16: 45,800,919 (GRCm39) F102I probably damaging Het
Pld5 A T 1: 175,917,522 (GRCm39) M75K possibly damaging Het
Pmp22 T A 11: 63,041,929 (GRCm39) probably benign Het
Polr2a A G 11: 69,631,845 (GRCm39) S1074P possibly damaging Het
Pop1 T A 15: 34,526,352 (GRCm39) V649E possibly damaging Het
Prc1 A G 7: 79,962,850 (GRCm39) N548S probably damaging Het
Prss51 T C 14: 64,334,588 (GRCm39) L202P probably damaging Het
Rhpn1 T C 15: 75,585,428 (GRCm39) S576P possibly damaging Het
Rictor A G 15: 6,738,123 (GRCm39) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,018,645 (GRCm39) L177* probably null Het
Rpl23a-ps1 T G 1: 46,021,087 (GRCm39) noncoding transcript Het
Saa2 A G 7: 46,402,902 (GRCm39) D51G probably damaging Het
Sec31a A T 5: 100,551,977 (GRCm39) probably benign Het
Secisbp2 G A 13: 51,837,361 (GRCm39) E841K possibly damaging Het
Serinc1 A G 10: 57,393,306 (GRCm39) Y437H probably damaging Het
Slc39a12 A T 2: 14,440,492 (GRCm39) H481L probably benign Het
Suz12 T A 11: 79,920,859 (GRCm39) N586K probably damaging Het
Synm T C 7: 67,386,630 (GRCm39) Y344C possibly damaging Het
Tas2r104 A G 6: 131,662,304 (GRCm39) V135A probably benign Het
Tdrd9 T C 12: 112,034,673 (GRCm39) S1371P probably benign Het
Tg T A 15: 66,700,382 (GRCm39) D893E probably benign Het
Thoc5 C A 11: 4,868,217 (GRCm39) D423E possibly damaging Het
Trim11 G A 11: 58,881,361 (GRCm39) R418H probably damaging Het
Trim52 T G 14: 106,344,399 (GRCm39) V19G probably damaging Het
Tuba4a C A 1: 75,192,502 (GRCm39) V371L probably damaging Het
Ugt8a A G 3: 125,708,606 (GRCm39) V168A probably benign Het
Ulk1 C T 5: 110,938,951 (GRCm39) G496R probably damaging Het
Usp40 A G 1: 87,874,320 (GRCm39) *1236Q probably null Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,757,350 (GRCm39) probably null Het
Vmn2r53 A G 7: 12,316,338 (GRCm39) Y494H probably damaging Het
Vmn2r65 T A 7: 84,595,442 (GRCm39) D414V probably benign Het
Wdr26 A T 1: 181,010,444 (GRCm39) L519* probably null Het
Wnk1 A G 6: 119,940,112 (GRCm39) V173A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp318 T C 17: 46,707,634 (GRCm39) S231P probably damaging Het
Zfp398 T C 6: 47,842,782 (GRCm39) V146A probably benign Het
Zfp410 T C 12: 84,378,486 (GRCm39) M270T probably damaging Het
Zfp445 A T 9: 122,682,578 (GRCm39) H454Q possibly damaging Het
Other mutations in Hdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Hdc APN 2 126,443,792 (GRCm39) missense probably benign 0.00
IGL01024:Hdc APN 2 126,445,766 (GRCm39) missense probably benign 0.32
IGL01393:Hdc APN 2 126,436,581 (GRCm39) missense probably benign 0.28
IGL01802:Hdc APN 2 126,445,814 (GRCm39) missense probably benign 0.04
IGL01958:Hdc APN 2 126,436,452 (GRCm39) missense possibly damaging 0.87
IGL02193:Hdc APN 2 126,443,700 (GRCm39) splice site probably benign
IGL02494:Hdc APN 2 126,436,041 (GRCm39) missense probably benign
IGL02696:Hdc APN 2 126,436,220 (GRCm39) missense probably damaging 1.00
IGL02874:Hdc APN 2 126,443,596 (GRCm39) missense probably benign 0.21
R0528:Hdc UTSW 2 126,458,152 (GRCm39) missense probably benign 0.00
R1337:Hdc UTSW 2 126,458,196 (GRCm39) missense probably benign
R1862:Hdc UTSW 2 126,439,853 (GRCm39) missense probably benign 0.36
R1938:Hdc UTSW 2 126,448,317 (GRCm39) missense possibly damaging 0.86
R1994:Hdc UTSW 2 126,458,107 (GRCm39) missense probably damaging 1.00
R2230:Hdc UTSW 2 126,435,938 (GRCm39) missense possibly damaging 0.65
R2257:Hdc UTSW 2 126,458,000 (GRCm39) splice site probably null
R2921:Hdc UTSW 2 126,435,910 (GRCm39) missense probably damaging 1.00
R2923:Hdc UTSW 2 126,435,910 (GRCm39) missense probably damaging 1.00
R3620:Hdc UTSW 2 126,458,187 (GRCm39) missense possibly damaging 0.86
R3621:Hdc UTSW 2 126,458,187 (GRCm39) missense possibly damaging 0.86
R3914:Hdc UTSW 2 126,444,926 (GRCm39) missense probably damaging 1.00
R4076:Hdc UTSW 2 126,458,181 (GRCm39) missense possibly damaging 0.92
R4114:Hdc UTSW 2 126,443,738 (GRCm39) missense probably benign 0.16
R4213:Hdc UTSW 2 126,439,786 (GRCm39) splice site probably null
R4827:Hdc UTSW 2 126,436,233 (GRCm39) missense probably benign
R4889:Hdc UTSW 2 126,436,053 (GRCm39) missense probably benign 0.00
R5013:Hdc UTSW 2 126,446,220 (GRCm39) missense probably benign 0.33
R5593:Hdc UTSW 2 126,460,504 (GRCm39) utr 5 prime probably benign
R5604:Hdc UTSW 2 126,436,583 (GRCm39) missense probably benign
R5637:Hdc UTSW 2 126,458,109 (GRCm39) missense probably benign 0.02
R6211:Hdc UTSW 2 126,435,897 (GRCm39) missense probably damaging 0.98
R6312:Hdc UTSW 2 126,449,326 (GRCm39) missense possibly damaging 0.65
R7730:Hdc UTSW 2 126,436,002 (GRCm39) missense possibly damaging 0.51
R7889:Hdc UTSW 2 126,458,130 (GRCm39) missense probably damaging 1.00
R8328:Hdc UTSW 2 126,443,803 (GRCm39) missense probably damaging 1.00
R8482:Hdc UTSW 2 126,436,125 (GRCm39) missense probably benign
R8517:Hdc UTSW 2 126,439,890 (GRCm39) critical splice acceptor site probably null
R9136:Hdc UTSW 2 126,439,786 (GRCm39) splice site probably null
R9139:Hdc UTSW 2 126,439,837 (GRCm39) missense probably damaging 1.00
R9208:Hdc UTSW 2 126,436,600 (GRCm39) missense probably benign 0.32
R9515:Hdc UTSW 2 126,458,149 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCCTCCTTGGTGGTAAACTGGGATG -3'
(R):5'- TTGAGACACAAGGTCTCTGGGTGG -3'

Sequencing Primer
(F):5'- CCCAGCATTTACTGGTCTGAAAG -3'
(R):5'- TGGGTGTGAGGTGACAGAG -3'
Posted On 2013-05-23