Mutagenetix > Incidental Mutation

Incidental Mutation 'R4076:Hdc'

316549

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

040975-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R4076 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126616261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 47 (R47Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

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

AlphaFold

P23738

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028838
AA Change: R47Q

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: R47Q

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: ENSMUST00000138752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148591

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Anxa5	T	C	3: 36,450,380	I277V	probably benign	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Cd48	T	A	1: 171,695,883	V98D	probably damaging	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Dnali1	T	C	4: 125,059,470	D188G	probably damaging	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Fras1	G	C	5: 96,743,158	D2849H	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Ltb4r2	A	T	14: 55,762,941	R340W	probably benign	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Nars2	T	A	7: 96,958,094	S91T	probably damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Osgin1	A	C	8: 119,445,033	S189R	possibly damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pik3c2g	A	T	6: 139,852,863	N373I	probably damaging	Het
Pou2f2	T	C	7: 25,097,288	T270A	probably damaging	Het
Rad51b	T	G	12: 79,314,882	S122R	probably damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Tfb1m	T	A	17: 3,521,670	R257W	probably damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	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
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
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'- GCCACACTGAGTCAAGCAAG -3'
(R):5'- CACCCTTACTCTCAAGGACG -3'

Sequencing Primer
(F):5'- CACTGAGTCAAGCAAGGGTTTCTTAG -3'
(R):5'- TTACTCTCAAGGACGCACTGG -3'

Posted On

2015-05-15