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, Hdc-c, Hdc-e, L-histidine decarboxylase

MMRRC Submission

068982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126594680 bp (GRCm38)

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
2810474O19Rik	C	T	6: 149,326,529 (GRCm38)	L358F	probably damaging	Het
Acot6	T	A	12: 84,106,584 (GRCm38)	L200Q	possibly damaging	Het
AI314180	A	T	4: 58,875,444 (GRCm38)	D173E	probably damaging	Het
Apbb1	A	G	7: 105,559,520 (GRCm38)	S569P	probably damaging	Het
Atl3	A	G	19: 7,510,082 (GRCm38)	I121V	probably benign	Het
C87436	A	G	6: 86,446,245 (GRCm38)	D267G	probably benign	Het
Ccdc7a	T	A	8: 128,746,001 (GRCm38)	I1617F	possibly damaging	Het
Cic	T	C	7: 25,288,077 (GRCm38)	F1397L	probably benign	Het
Cln6	T	A	9: 62,849,183 (GRCm38)	M203K	probably benign	Het
Clock	A	G	5: 76,237,024 (GRCm38)	S449P	probably benign	Het
Cse1l	C	A	2: 166,941,265 (GRCm38)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300 (GRCm38)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969 (GRCm38)	I443V	probably benign	Het
Dctn1	T	C	6: 83,199,702 (GRCm38)	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,101,200 (GRCm38)	E37G	probably benign	Het
Dnah11	C	T	12: 118,027,516 (GRCm38)	E2372K	probably damaging	Het
Ercc5	T	C	1: 44,178,343 (GRCm38)	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,553,039 (GRCm38)	E465G	probably damaging	Het
Fam83d	T	A	2: 158,768,546 (GRCm38)	C145S	probably damaging	Het
Fbln7	T	A	2: 128,895,423 (GRCm38)	V386E	probably damaging	Het
Fpr3	A	T	17: 17,970,869 (GRCm38)	Q134L	probably damaging	Het
Gm3636	T	A	14: 6,741,416 (GRCm38)	R5S	possibly damaging	Het
Gna15	A	G	10: 81,509,390 (GRCm38)	S214P	probably benign	Het
Hdac9	A	G	12: 34,170,102 (GRCm38)	M897T	probably benign	Het
Krtap27-1	A	G	16: 88,671,428 (GRCm38)	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,850,995 (GRCm38)	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,400,410 (GRCm38)	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132 (GRCm38)	C20R	unknown	Het
Mphosph9	T	C	5: 124,312,791 (GRCm38)	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327 (GRCm38)	R328G	probably benign	Het
Mslnl	C	T	17: 25,742,720 (GRCm38)	P117S	possibly damaging	Het
Muc16	T	A	9: 18,508,537 (GRCm38)	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,295,228 (GRCm38)	N430S	probably benign	Het
Myl1	T	C	1: 66,934,524 (GRCm38)	I8V	probably benign	Het
Ncdn	A	T	4: 126,750,248 (GRCm38)	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,761,771 (GRCm38)	R291S	probably damaging	Het
Nr4a2	A	G	2: 57,109,081 (GRCm38)	V448A	probably damaging	Het
Nrip1	T	C	16: 76,292,728 (GRCm38)	E647G	possibly damaging	Het
Olfr1259	C	A	2: 89,943,381 (GRCm38)	V245L	possibly damaging	Het
Olfr282	C	A	15: 98,437,733 (GRCm38)	A88E	probably benign	Het
Olfr69	A	G	7: 103,768,271 (GRCm38)	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824 (GRCm38)	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073 (GRCm38)	I172F	unknown	Het
Per1	T	C	11: 69,104,810 (GRCm38)	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,222,402 (GRCm38)	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,517,444 (GRCm38)	V79D	probably damaging	Het
Pram1	A	G	17: 33,640,827 (GRCm38)	T123A	probably benign	Het
Ptpn23	C	A	9: 110,408,033 (GRCm38)		probably null	Het
Rcbtb2	C	T	14: 73,177,060 (GRCm38)	S437L	probably damaging	Het
Rxfp4	T	A	3: 88,652,083 (GRCm38)	R354*	probably null	Het
Serpinb5	A	G	1: 106,876,123 (GRCm38)	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,227,210 (GRCm38)	D317V	probably damaging	Het
Slco5a1	A	G	1: 12,989,578 (GRCm38)		probably null	Het
Snx14	T	A	9: 88,383,779 (GRCm38)	T768S	probably benign	Het
Sorbs1	T	A	19: 40,365,018 (GRCm38)		probably benign	Het
Stambp	C	T	6: 83,551,972 (GRCm38)	A364T	probably damaging	Het
Tgm3	T	A	2: 130,023,698 (GRCm38)	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,431 (GRCm38)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213 (GRCm38)	V205A	probably benign	Het
Treml2	A	T	17: 48,307,894 (GRCm38)	R136*	probably null	Het
Trim46	T	C	3: 89,235,159 (GRCm38)	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,582,707 (GRCm38)	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,297,572 (GRCm38)	H20R	probably benign	Het
Uvssa	T	C	5: 33,414,075 (GRCm38)		probably null	Het
Vmn1r192	A	T	13: 22,187,231 (GRCm38)	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,483,299 (GRCm38)	I330N	probably damaging	Het
Zfp40	A	G	17: 23,175,577 (GRCm38)	F679L	probably damaging	Het

Other mutations in Hdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5604:Hdc	UTSW	2	126,594,663 (GRCm38)	missense	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
R9515:Hdc	UTSW	2	126,616,229 (GRCm38)	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