Mutagenetix > Incidental Mutation

Incidental Mutation 'R2923:Hdc'

255606

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

040508-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R2923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126593990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 654 (P654S)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028838]

AlphaFold

P23738

Predicted Effect

probably damaging
Transcript: ENSMUST00000028838
AA Change: P654S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: P654S

Domain	Start	End	E-Value	Type
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

0.1161

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,420,744	C368S	probably damaging	Het
Adamts3	T	C	5: 89,861,534	D90G	possibly damaging	Het
Astn2	T	C	4: 65,913,773	Y500C	probably damaging	Het
Atp12a	A	T	14: 56,374,622	T418S	probably benign	Het
Atp6v0a2	C	T	5: 124,717,917	T656M	possibly damaging	Het
Camsap2	G	A	1: 136,280,809	P971S	possibly damaging	Het
Ccdc116	T	C	16: 17,142,443	H170R	probably benign	Het
Clpb	A	G	7: 101,722,828	D257G	probably benign	Het
Cpb2	T	C	14: 75,256,033		probably null	Het
D430041D05Rik	G	A	2: 104,255,315	T164I	possibly damaging	Het
Dhx40	T	G	11: 86,789,263	Q416P	probably benign	Het
Dnah17	A	G	11: 118,093,547	F1636S	probably damaging	Het
Fhl3	T	C	4: 124,705,670	S13P	probably damaging	Het
Gapvd1	A	T	2: 34,688,863	I1249N	probably damaging	Het
Gm10604	C	T	4: 11,980,122	A61T	unknown	Het
Gm20939	T	A	17: 94,877,293	H456Q	probably damaging	Het
Golga4	T	A	9: 118,559,343	S1844R	possibly damaging	Het
Grm6	G	C	11: 50,864,521	G827R	probably damaging	Het
Grm7	T	A	6: 111,495,905		probably null	Het
Hoxb1	T	C	11: 96,366,293	L156P	probably benign	Het
Ipo9	G	T	1: 135,400,129	Q515K	probably benign	Het
Kcnk3	T	C	5: 30,622,070	S155P	probably damaging	Het
Mboat2	T	A	12: 24,954,240	W347R	probably damaging	Het
Mib1	C	T	18: 10,760,831	Q374*	probably null	Het
Ncor2	A	G	5: 125,055,791	F44S	probably damaging	Het
Nipal3	A	T	4: 135,477,465	I125N	probably damaging	Het
Olfr1218	A	G	2: 89,054,499	V309A	probably benign	Het
Olfr644	A	G	7: 104,068,587	V148A	probably benign	Het
Ovch2	A	G	7: 107,790,389	L317P	possibly damaging	Het
Pnpla2	T	A	7: 141,455,467	C61S	probably benign	Het
Ppp1r16b	G	T	2: 158,756,957	L312F	probably damaging	Het
Rdm1	T	A	11: 101,630,890	L157H	possibly damaging	Het
Rpl22	C	A	4: 152,327,545	T26N	possibly damaging	Het
Rptn	A	G	3: 93,398,708	Y1116C	possibly damaging	Het
Serpinb5	G	A	1: 106,876,040	S152N	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
St8sia1	A	T	6: 142,829,237	F205L	probably damaging	Het
Stab2	A	G	10: 86,861,461	Y1988H	probably damaging	Het
Susd3	A	T	13: 49,248,469	M1K	probably null	Het
Syne3	A	T	12: 104,968,084	L55Q	probably damaging	Het
Tmem2	A	G	19: 21,817,939	D732G	possibly damaging	Het
Tmx1	T	A	12: 70,466,121	C268S	probably benign	Het
Ttll1	T	C	15: 83,492,559	K321R	probably damaging	Het
Wisp2	G	A	2: 163,832,346	R222Q	probably benign	Het
Zdhhc18	G	T	4: 133,633,144	H82Q	probably benign	Het
Zhx1	T	C	15: 58,053,681	I390V	probably damaging	Het

Other mutations in Hdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02874:Hdc	APN	2	126601676	missense	probably benign	0.21
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCCCGCTTAAACTTCCCAG -3'
(R):5'- CTATGAGTGCCCAGAAGTCACTC -3'

Sequencing Primer
(F):5'- ATCTGTTGTGGATCACGAAGACCC -3'
(R):5'- GAAGTCACTCCCCGCAGACG -3'

Posted On

2014-12-29