Mutagenetix > Incidental Mutations

Incidental Mutation 'R6312:Hdc'

509798

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126607406 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028838
AA Change: V77A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: V77A

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: ENSMUST00000132382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138752

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,889,767	S472P	possibly damaging	Het
9430007A20Rik	A	T	4: 144,528,502	H164L	probably benign	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,847,127		probably benign	Het
Acadvl	T	A	11: 70,011,767	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,667,253	*202R	probably null	Het
B3gat2	G	T	1: 23,815,467	E83*	probably null	Het
BC017158	T	C	7: 128,273,543	K411R	probably benign	Het
Bmper	C	A	9: 23,406,791	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,364,435	P336H	probably damaging	Het
Cct2	A	T	10: 117,056,055	S363T	probably benign	Het
Cers5	A	G	15: 99,747,115	V119A	probably benign	Het
Cfhr2	C	T	1: 139,831,079	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,215,710	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,483,294	M255T	probably benign	Het
Dpp6	A	T	5: 27,725,671	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671	K205*	probably null	Het
Epg5	T	A	18: 77,979,211	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,674,630	C452G	probably damaging	Het
Gnai2	A	T	9: 107,635,117	V34E	probably damaging	Het
Gng3	A	G	19: 8,838,633	V7A	probably benign	Het
Hint1	G	A	11: 54,869,990	C85Y	probably benign	Het
Kif17	C	T	4: 138,288,193	S551L	probably benign	Het
Lgr5	A	G	10: 115,452,924	L581P	probably damaging	Het
Lig4	G	T	8: 9,971,739	N680K	probably benign	Het
Lipi	T	A	16: 75,573,915	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,436,681	G4294E	probably damaging	Het
Lrrc7	A	G	3: 158,160,609	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,228,397	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,449,396	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386	T90A	probably benign	Het
Olfr1055	A	T	2: 86,347,581	F62I	probably damaging	Het
Olfr352	A	T	2: 36,870,465	I300L	probably benign	Het
Olfr659	T	A	7: 104,671,589	Y296N	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TTGCTGT	TTGCTGTCTGCTGT	9: 38,026,541		probably null	Het
Olfr883	GTTT	GTTTGCTGTTTT	9: 38,026,546		probably null	Het
Olfr883	TTT	TTTGCTGATT	9: 38,026,547		probably null	Het
Olfr883	T	TGCTGTTC	9: 38,026,549		probably null	Het
Osmr	A	G	15: 6,823,638	V592A	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,579,904		probably null	Het
Slc6a7	A	G	18: 61,002,385	S381P	probably benign	Het
Slitrk6	A	G	14: 110,750,247	L676P	probably benign	Het
Sspo	T	C	6: 48,457,366		probably null	Het
Tectb	CT	C	19: 55,192,662		probably null	Homo
Tma16	T	C	8: 66,481,466	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257	H320N	probably damaging	Het
Trim63	A	G	4: 134,325,697	D323G	probably damaging	Het
Vash2	C	A	1: 190,958,683	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,676,084	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,598,639		probably null	Het
Zfp382	G	A	7: 30,134,538	R538H	probably damaging	Het
Zfp592	T	A	7: 81,023,436	D49E	probably benign	Het
Zfp60	T	C	7: 27,748,776	C290R	probably damaging	Het
Zfp69	G	A	4: 120,949,517		probably benign	Het
Zfp790	G	T	7: 29,828,222	G111W	probably damaging	Het
Zfp948	T	C	17: 21,587,167	I207T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGAACAGAATGCATCCTCTG -3'
(R):5'- GCTCAGTCCAGGATATGTGGAG -3'

Sequencing Primer
(F):5'- GCATCCTCTGCCCTGAAATGG -3'
(R):5'- AGTGGAAAAATAGTTACAAAGGCC -3'

Posted On

2018-04-02