Incidental Mutation 'R5604:Hdc'
ID 439162
Institutional Source Beutler Lab
Gene Symbol Hdc
Ensembl Gene ENSMUSG00000027360
Gene Name histidine decarboxylase
Synonyms Hdc-s, Hdc-a, Hdc-c, Hdc-e, L-histidine decarboxylase
MMRRC Submission 043156-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R5604 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 126593667-126619299 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126594663 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 429 (S429R)
Ref Sequence ENSEMBL: ENSMUSP00000028838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028838]
AlphaFold P23738
Predicted Effect probably benign
Transcript: ENSMUST00000028838
AA Change: S429R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: S429R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,759,390 (GRCm38) N164I possibly damaging Het
4933402J07Rik C A 8: 87,568,497 (GRCm38) R88S possibly damaging Het
Abca1 A T 4: 53,067,168 (GRCm38) probably null Het
Abca13 T A 11: 9,566,279 (GRCm38) I4406K probably damaging Het
Adam6b T A 12: 113,490,800 (GRCm38) Y412* probably null Het
Ahcyl2 C T 6: 29,908,367 (GRCm38) H370Y probably damaging Het
Ahi1 A G 10: 20,987,005 (GRCm38) Y693C probably damaging Het
Anapc4 T A 5: 52,841,734 (GRCm38) Y129* probably null Het
Ankrd35 A G 3: 96,684,899 (GRCm38) T834A probably benign Het
Antxr2 T C 5: 97,948,310 (GRCm38) K372E probably damaging Het
Arhgef1 C T 7: 24,912,785 (GRCm38) H198Y probably benign Het
Barhl2 T C 5: 106,455,546 (GRCm38) E249G probably benign Het
C2cd5 T C 6: 143,012,021 (GRCm38) E987G probably benign Het
C87436 T C 6: 86,447,355 (GRCm38) S290P probably benign Het
Ccser1 C T 6: 61,313,804 (GRCm38) T490M probably damaging Het
Cd8b1 T C 6: 71,326,175 (GRCm38) V78A probably benign Het
Cdc25c A G 18: 34,733,648 (GRCm38) Y374H probably damaging Het
Cmya5 C T 13: 93,092,763 (GRCm38) R1939H probably benign Het
Cyp2d40 A G 15: 82,764,055 (GRCm38) F19S probably damaging Het
Dll3 A G 7: 28,294,632 (GRCm38) V460A probably benign Het
Dnajb12 GC G 10: 59,892,752 (GRCm38) probably null Het
E4f1 A G 17: 24,444,144 (GRCm38) I729T probably damaging Het
Endou A C 15: 97,720,919 (GRCm38) S75A probably benign Het
Epas1 C T 17: 86,805,772 (GRCm38) H129Y probably damaging Het
Grm1 T A 10: 10,746,735 (GRCm38) N415Y probably damaging Het
Hnf4g C T 3: 3,657,126 (GRCm38) Q447* probably null Het
Htr6 C T 4: 139,061,503 (GRCm38) A414T probably benign Het
Insig1 T C 5: 28,075,082 (GRCm38) L224P probably damaging Het
Ipo9 G A 1: 135,402,245 (GRCm38) L486F probably damaging Het
Irak2 T A 6: 113,690,831 (GRCm38) S458T possibly damaging Het
Irs2 A G 8: 11,005,007 (GRCm38) S1142P possibly damaging Het
Kirrel1 T A 3: 87,089,155 (GRCm38) N379I possibly damaging Het
L3mbtl4 T A 17: 68,777,922 (GRCm38) D609E probably benign Het
Lama3 A G 18: 12,439,348 (GRCm38) T537A probably benign Het
Lce1i A T 3: 92,777,749 (GRCm38) V40E unknown Het
Mprip T A 11: 59,758,467 (GRCm38) V999D probably benign Het
Myd88 G T 9: 119,339,763 (GRCm38) T85K possibly damaging Het
Or1e35 T A 11: 73,907,027 (GRCm38) H155L probably benign Het
Padi6 A T 4: 140,731,162 (GRCm38) M473K probably damaging Het
Pcdh12 T A 18: 38,268,882 (GRCm38) S97C probably damaging Het
Pkd1l1 T A 11: 8,833,877 (GRCm38) D2026V probably damaging Het
Plcxd1 T C 5: 110,102,585 (GRCm38) V264A probably benign Het
Plekha4 T C 7: 45,549,156 (GRCm38) S558P probably damaging Het
Ppm1a T A 12: 72,790,681 (GRCm38) M334K probably benign Het
Ppp1r13l T C 7: 19,375,599 (GRCm38) S684P possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,893,123 (GRCm38) probably null Het
Prl2a1 T C 13: 27,806,386 (GRCm38) probably benign Het
Ptch1 T C 13: 63,525,122 (GRCm38) K753E probably benign Het
Qrich1 A G 9: 108,559,303 (GRCm38) probably benign Het
Ror2 G A 13: 53,117,165 (GRCm38) R373C probably benign Het
Rtn4 C A 11: 29,708,140 (GRCm38) L765I probably damaging Het
Sema3a T C 5: 13,473,520 (GRCm38) probably null Het
Setd2 T A 9: 110,604,216 (GRCm38) D62E probably damaging Het
Ss18 A T 18: 14,636,520 (GRCm38) Y327N unknown Het
Ticam1 G A 17: 56,271,756 (GRCm38) T113I probably benign Het
Tnrc6a A G 7: 123,174,236 (GRCm38) I1134V probably damaging Het
Top3b T G 16: 16,889,535 (GRCm38) Y526* probably null Het
Tph2 T C 10: 115,090,709 (GRCm38) E384G probably damaging Het
Ttll11 A T 2: 35,817,786 (GRCm38) I503N probably benign Het
Zfp87 T G 13: 67,517,826 (GRCm38) K172N probably damaging Het
Other mutations in Hdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Hdc APN 2 126,601,872 (GRCm38) missense probably benign 0.00
IGL01024:Hdc APN 2 126,603,846 (GRCm38) missense probably benign 0.32
IGL01393:Hdc APN 2 126,594,661 (GRCm38) missense probably benign 0.28
IGL01802:Hdc APN 2 126,603,894 (GRCm38) missense probably benign 0.04
IGL01958:Hdc APN 2 126,594,532 (GRCm38) missense possibly damaging 0.87
IGL02193:Hdc APN 2 126,601,780 (GRCm38) splice site probably benign
IGL02494:Hdc APN 2 126,594,121 (GRCm38) missense probably benign
IGL02696:Hdc APN 2 126,594,300 (GRCm38) missense probably damaging 1.00
IGL02874:Hdc APN 2 126,601,676 (GRCm38) missense probably benign 0.21
R0453:Hdc UTSW 2 126,594,951 (GRCm38) splice site probably benign
R0528:Hdc UTSW 2 126,616,232 (GRCm38) missense probably benign 0.00
R1337:Hdc UTSW 2 126,616,276 (GRCm38) missense probably benign
R1862:Hdc UTSW 2 126,597,933 (GRCm38) missense probably benign 0.36
R1938:Hdc UTSW 2 126,606,397 (GRCm38) missense possibly damaging 0.86
R1994:Hdc UTSW 2 126,616,187 (GRCm38) missense probably damaging 1.00
R2230:Hdc UTSW 2 126,594,018 (GRCm38) missense possibly damaging 0.65
R2257:Hdc UTSW 2 126,616,080 (GRCm38) splice site probably null
R2921:Hdc UTSW 2 126,593,990 (GRCm38) missense probably damaging 1.00
R2923:Hdc UTSW 2 126,593,990 (GRCm38) missense probably damaging 1.00
R3620:Hdc UTSW 2 126,616,267 (GRCm38) missense possibly damaging 0.86
R3621:Hdc UTSW 2 126,616,267 (GRCm38) missense possibly damaging 0.86
R3914:Hdc UTSW 2 126,603,006 (GRCm38) missense probably damaging 1.00
R4076:Hdc UTSW 2 126,616,261 (GRCm38) missense possibly damaging 0.92
R4114:Hdc UTSW 2 126,601,818 (GRCm38) missense probably benign 0.16
R4213:Hdc UTSW 2 126,597,866 (GRCm38) splice site probably null
R4827:Hdc UTSW 2 126,594,313 (GRCm38) missense probably benign
R4889:Hdc UTSW 2 126,594,133 (GRCm38) missense probably benign 0.00
R5013:Hdc UTSW 2 126,604,300 (GRCm38) missense probably benign 0.33
R5593:Hdc UTSW 2 126,618,584 (GRCm38) utr 5 prime probably benign
R5637:Hdc UTSW 2 126,616,189 (GRCm38) missense probably benign 0.02
R6211:Hdc UTSW 2 126,593,977 (GRCm38) missense probably damaging 0.98
R6312:Hdc UTSW 2 126,607,406 (GRCm38) missense possibly damaging 0.65
R7730:Hdc UTSW 2 126,594,082 (GRCm38) missense possibly damaging 0.51
R7889:Hdc UTSW 2 126,616,210 (GRCm38) missense probably damaging 1.00
R8328:Hdc UTSW 2 126,601,883 (GRCm38) missense probably damaging 1.00
R8482:Hdc UTSW 2 126,594,205 (GRCm38) missense probably benign
R8517:Hdc UTSW 2 126,597,970 (GRCm38) critical splice acceptor site probably null
R9136:Hdc UTSW 2 126,597,866 (GRCm38) splice site probably null
R9139:Hdc UTSW 2 126,597,917 (GRCm38) missense probably damaging 1.00
R9208:Hdc UTSW 2 126,594,680 (GRCm38) missense probably benign 0.32
R9515:Hdc UTSW 2 126,616,229 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTGCTTGATGATCTTCCGGG -3'
(R):5'- AAGGTACTGTGCTCTTGCATGG -3'

Sequencing Primer
(F):5'- TGACTGACTCCAGGGATAGC -3'
(R):5'- TTGCATGGCTCCCGGAGAAG -3'
Posted On 2016-10-26