Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Hdc'

698611

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

068982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126435587-126461219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126436600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 424 (N424D)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

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

AlphaFold

P23738

Predicted Effect

probably benign
Transcript: ENSMUST00000028838
AA Change: N424D

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: N424D

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Pfam:Pyridoxal_deC	43	421	2.2e-173	PFAM

Meta Mutation Damage Score

0.1602

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	T	A	12: 84,153,358 (GRCm39)	L200Q	possibly damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
C87436	A	G	6: 86,423,227 (GRCm39)	D267G	probably benign	Het
Ccdc7a	T	A	8: 129,472,482 (GRCm39)	I1617F	possibly damaging	Het
Cic	T	C	7: 24,987,502 (GRCm39)	F1397L	probably benign	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Clock	A	G	5: 76,384,871 (GRCm39)	S449P	probably benign	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,589,583 (GRCm39)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,943,932 (GRCm39)	I443V	probably benign	Het
Dctn1	T	C	6: 83,176,684 (GRCm39)	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,002,698 (GRCm39)	E37G	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Ercc5	T	C	1: 44,217,503 (GRCm39)	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fam83d	T	A	2: 158,610,466 (GRCm39)	C145S	probably damaging	Het
Fbln7	T	A	2: 128,737,343 (GRCm39)	V386E	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm3636	T	A	14: 17,955,001 (GRCm39)	R5S	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Hdac9	A	G	12: 34,220,101 (GRCm39)	M897T	probably benign	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,900,995 (GRCm39)	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mphosph9	T	C	5: 124,450,854 (GRCm39)	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Mslnl	C	T	17: 25,961,694 (GRCm39)	P117S	possibly damaging	Het
Muc16	T	A	9: 18,419,833 (GRCm39)	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,532,664 (GRCm39)	N430S	probably benign	Het
Myl1	T	C	1: 66,973,683 (GRCm39)	I8V	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,919,114 (GRCm39)	R291S	probably damaging	Het
Nr4a2	A	G	2: 56,999,093 (GRCm39)	V448A	probably damaging	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Or4c12	C	A	2: 89,773,725 (GRCm39)	V245L	possibly damaging	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Or8s10	C	A	15: 98,335,614 (GRCm39)	A88E	probably benign	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Per1	T	C	11: 68,995,636 (GRCm39)	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,306,859 (GRCm39)	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Pram1	A	G	17: 33,859,801 (GRCm39)	T123A	probably benign	Het
Ptpn23	C	A	9: 110,237,101 (GRCm39)		probably null	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Resf1	C	T	6: 149,228,027 (GRCm39)	L358F	probably damaging	Het
Rxfp4	T	A	3: 88,559,390 (GRCm39)	R354*	probably null	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,281,359 (GRCm39)	D317V	probably damaging	Het
Slco5a1	A	G	1: 13,059,802 (GRCm39)		probably null	Het
Snx14	T	A	9: 88,265,832 (GRCm39)	T768S	probably benign	Het
Sorbs1	T	A	19: 40,353,462 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,528,954 (GRCm39)	A364T	probably damaging	Het
Tgm3	T	A	2: 129,865,618 (GRCm39)	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Treml2	A	T	17: 48,614,922 (GRCm39)	R136*	probably null	Het
Trim46	T	C	3: 89,142,466 (GRCm39)	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,376,356 (GRCm39)	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Uvssa	T	C	5: 33,571,419 (GRCm39)		probably null	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,486,298 (GRCm39)	I330N	probably damaging	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably damaging	Het

Other mutations in Hdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0453:Hdc	UTSW	2	126,436,871 (GRCm39)	splice site	probably benign
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
R9515:Hdc	UTSW	2	126,458,149 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAAGGTTAGCAGCCTCTTGG -3'
(R):5'- ATCTCTGGTCAGAAGCGACC -3'

Sequencing Primer
(F):5'- GATGAGGTGCCAATCTCTCAG -3'
(R):5'- AATTCCTGCTAAGAGGCACCTTGG -3'

Posted On

2022-02-07