Mutagenetix > Incidental Mutation

Incidental Mutation 'R1938:Hdc'

213635

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

039956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R1938 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126606397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 142 (H142L)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

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

AlphaFold

P23738

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028838
AA Change: H142L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: H142L

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,175,371 (GRCm38)	K134R	possibly damaging	Het
Adamts17	T	C	7: 67,125,072 (GRCm38)	S980P	probably damaging	Het
Adap2	T	A	11: 80,170,682 (GRCm38)	I221K	probably damaging	Het
Adgrv1	C	T	13: 81,391,757 (GRCm38)	R5681Q	probably damaging	Het
Adipor1	T	A	1: 134,423,103 (GRCm38)	L30Q	probably benign	Het
Agpat5	A	G	8: 18,878,165 (GRCm38)	T249A	probably benign	Het
Agxt2	G	T	15: 10,391,935 (GRCm38)	G329V	probably damaging	Het
Ankrd28	A	G	14: 31,705,276 (GRCm38)	V801A	possibly damaging	Het
Ap1g2	A	G	14: 55,099,772 (GRCm38)	V702A	possibly damaging	Het
Arid3a	A	G	10: 79,950,706 (GRCm38)	Q429R	probably damaging	Het
Arsb	T	A	13: 93,862,150 (GRCm38)	L322Q	probably damaging	Het
Ash1l	A	G	3: 88,984,422 (GRCm38)	T1203A	probably damaging	Het
Atad2	T	A	15: 58,096,705 (GRCm38)	N1308Y	possibly damaging	Het
Atp10b	A	T	11: 43,230,418 (GRCm38)	R969S	probably benign	Het
Bmp10	T	C	6: 87,433,720 (GRCm38)	I165T	possibly damaging	Het
Ccdc121rt2	C	A	5: 112,449,801 (GRCm38)	C71*	probably null	Het
Ccne1	A	G	7: 38,106,277 (GRCm38)		probably null	Het
Cenpe	A	G	3: 135,247,479 (GRCm38)	N1565D	probably damaging	Het
Chd1	A	T	17: 15,762,486 (GRCm38)	E1404D	probably benign	Het
Chd7	G	A	4: 8,847,200 (GRCm38)	E1648K	probably damaging	Het
Chodl	T	C	16: 78,941,426 (GRCm38)	I94T	possibly damaging	Het
Chsy3	T	C	18: 59,409,512 (GRCm38)	F574S	probably damaging	Het
Clpb	A	T	7: 101,763,656 (GRCm38)	I317F	probably damaging	Het
Cnga3	T	A	1: 37,261,873 (GRCm38)	V558D	possibly damaging	Het
Col9a1	C	T	1: 24,222,473 (GRCm38)	P573S	probably damaging	Het
Crat	A	T	2: 30,413,061 (GRCm38)	D71E	probably benign	Het
Cspg4	A	G	9: 56,887,101 (GRCm38)	T707A	probably benign	Het
Ctsr	T	A	13: 61,162,445 (GRCm38)	R132S	probably benign	Het
Ctu2	T	C	8: 122,479,285 (GRCm38)	L255P	probably damaging	Het
Cyp2c69	T	C	19: 39,849,366 (GRCm38)	Y424C	probably damaging	Het
Ddx27	A	T	2: 167,034,109 (GRCm38)	K726N	probably damaging	Het
Dennd4a	A	G	9: 64,842,490 (GRCm38)	Q121R	probably damaging	Het
Dis3	A	G	14: 99,097,590 (GRCm38)	F192S	probably benign	Het
Ect2l	C	T	10: 18,144,635 (GRCm38)	S487N	probably benign	Het
Eml1	T	A	12: 108,521,396 (GRCm38)	F524L	possibly damaging	Het
Espl1	T	C	15: 102,305,042 (GRCm38)	I601T	probably benign	Het
Fbxo40	C	A	16: 36,969,351 (GRCm38)	V466L	probably damaging	Het
Frmpd1	C	T	4: 45,283,711 (GRCm38)	T844M	probably damaging	Het
Frs2	T	A	10: 117,081,106 (GRCm38)		probably benign	Het
Fuom	G	T	7: 140,099,608 (GRCm38)	T133K	probably benign	Het
Garnl3	T	A	2: 33,005,200 (GRCm38)	H619L	probably damaging	Het
Gm4861	G	T	3: 137,552,115 (GRCm38)	N36K	unknown	Het
Gps2	G	T	11: 69,915,369 (GRCm38)	M153I	probably benign	Het
Gtf2ird1	A	G	5: 134,415,245 (GRCm38)	V52A	probably damaging	Het
Gtpbp8	A	T	16: 44,745,422 (GRCm38)	D137E	probably benign	Het
Haus4	A	G	14: 54,544,276 (GRCm38)	C213R	probably damaging	Het
Hephl1	T	C	9: 15,053,987 (GRCm38)	D1069G	possibly damaging	Het
Herc6	T	A	6: 57,625,941 (GRCm38)	V535D	probably damaging	Het
Hipk3	A	T	2: 104,430,188 (GRCm38)	H1082Q	possibly damaging	Het
Hps5	A	T	7: 46,773,267 (GRCm38)	V513D	probably damaging	Het
Ifna13	T	A	4: 88,644,175 (GRCm38)	I71F	probably damaging	Het
Il1rl2	T	C	1: 40,363,324 (GRCm38)	I426T	probably damaging	Het
Irf5	A	T	6: 29,536,739 (GRCm38)	D483V	probably benign	Het
Jakmip3	A	G	7: 139,020,138 (GRCm38)	R256G	probably damaging	Het
Jazf1	T	C	6: 52,777,615 (GRCm38)	I159V	probably damaging	Het
Kmo	A	G	1: 175,651,588 (GRCm38)	D230G	possibly damaging	Het
Lrrc74b	A	G	16: 17,553,194 (GRCm38)	V213A	probably benign	Het
LTO1	A	G	7: 144,916,468 (GRCm38)	S45G	probably damaging	Het
Ly6g5b	T	C	17: 35,114,728 (GRCm38)	D36G	possibly damaging	Het
Mab21l4	T	C	1: 93,152,008 (GRCm38)	*453W	probably null	Het
Macc1	T	G	12: 119,445,731 (GRCm38)	L78R	probably damaging	Het
Mettl4	A	T	17: 94,747,857 (GRCm38)	D51E	possibly damaging	Het
Mfap1a	G	A	2: 121,502,354 (GRCm38)	L199F	possibly damaging	Het
Mmp17	G	T	5: 129,602,126 (GRCm38)	R363L	probably damaging	Het
Mrc1	G	A	2: 14,319,241 (GRCm38)	A1130T	possibly damaging	Het
Mrpl15	C	T	1: 4,777,582 (GRCm38)	A165T	probably damaging	Het
Mrpl45	G	A	11: 97,315,944 (GRCm38)		probably null	Het
Ms4a3	C	T	19: 11,635,840 (GRCm38)	A85T	possibly damaging	Het
Mttp	A	T	3: 138,125,121 (GRCm38)	D77E	probably benign	Het
Muc6	A	G	7: 141,637,098 (GRCm38)	L2489P	probably damaging	Het
Myl3	G	A	9: 110,766,734 (GRCm38)	E100K	probably damaging	Het
Nbea	T	A	3: 56,085,322 (GRCm38)	N288Y	probably damaging	Het
Ncoa7	A	G	10: 30,698,170 (GRCm38)	V181A	probably benign	Het
Oat	C	T	7: 132,558,205 (GRCm38)	V429M	probably benign	Het
Or2ak6	A	T	11: 58,702,623 (GRCm38)	*307C	probably null	Het
Or4x6	T	G	2: 90,119,083 (GRCm38)	I172L	probably damaging	Het
Or5d36	A	T	2: 88,070,956 (GRCm38)	L142Q	probably damaging	Het
Or5p80	T	C	7: 108,630,838 (GRCm38)	I282T	probably benign	Het
Or5w19	G	A	2: 87,868,461 (GRCm38)	V157I	probably benign	Het
Or6b13	A	G	7: 140,202,231 (GRCm38)	F180L	probably benign	Het
Or6c69b	T	A	10: 129,790,890 (GRCm38)	K233M	probably damaging	Het
Or8b55	A	G	9: 38,815,850 (GRCm38)	T116A	probably benign	Het
Or8s16	T	A	15: 98,313,380 (GRCm38)	M57L	probably damaging	Het
Otof	A	G	5: 30,376,369 (GRCm38)	S1464P	probably benign	Het
Otogl	A	T	10: 107,777,575 (GRCm38)	Y2010N	probably damaging	Het
Pgap3	C	T	11: 98,400,214 (GRCm38)		probably null	Het
Pgbd5	T	A	8: 124,374,249 (GRCm38)	K332*	probably null	Het
Pgs1	C	T	11: 118,005,727 (GRCm38)	P410L	probably damaging	Het
Pkhd1l1	G	A	15: 44,500,038 (GRCm38)	S618N	probably benign	Het
Plcb1	A	T	2: 135,386,302 (GRCm38)	D1073V	probably damaging	Het
Pola2	T	A	19: 5,951,180 (GRCm38)	T309S	probably benign	Het
Polg2	T	A	11: 106,778,961 (GRCm38)	H161L	probably damaging	Het
Postn	T	A	3: 54,377,612 (GRCm38)		probably null	Het
Ppt1	G	T	4: 122,845,991 (GRCm38)	C128F	probably damaging	Het
Ptpn12	G	A	5: 20,993,263 (GRCm38)	P678S	probably damaging	Het
Rcan3	A	T	4: 135,412,501 (GRCm38)		probably null	Het
Rgs22	T	C	15: 36,101,804 (GRCm38)	N216S	probably benign	Het
Rgs7bp	T	A	13: 104,951,582 (GRCm38)	D228V	probably damaging	Het
Rhobtb2	A	T	14: 69,796,613 (GRCm38)	S388T	probably benign	Het
Rnps1	C	T	17: 24,420,390 (GRCm38)	R138C	unknown	Het
Rpl38	T	C	11: 114,671,776 (GRCm38)	V36A	probably benign	Het
Rps7	G	T	12: 28,631,753 (GRCm38)	H126Q	possibly damaging	Het
Sec24b	G	T	3: 129,991,361 (GRCm38)	Q999K	possibly damaging	Het
Slc19a3	A	G	1: 83,019,368 (GRCm38)	V373A	possibly damaging	Het
Spats2l	T	A	1: 57,885,782 (GRCm38)	V113E	probably benign	Het
Ss18l1	A	T	2: 180,063,345 (GRCm38)	T377S	unknown	Het
Surf1	A	G	2: 26,915,970 (GRCm38)	F38L	probably benign	Het
Ticrr	G	A	7: 79,675,394 (GRCm38)	R556H	probably damaging	Het
Tmem184b	A	G	15: 79,365,814 (GRCm38)	S254P	probably damaging	Het
Tnfrsf4	G	T	4: 156,016,235 (GRCm38)	R237L	possibly damaging	Het
Tnk2	C	A	16: 32,663,742 (GRCm38)		probably benign	Het
Tnks	A	T	8: 34,838,530 (GRCm38)	D1191E	probably damaging	Het
Tnr	C	A	1: 159,895,037 (GRCm38)	Y1017*	probably null	Het
Tomm34	A	G	2: 164,061,006 (GRCm38)	I128T	probably benign	Het
Trim2	G	A	3: 84,177,792 (GRCm38)	S540F	possibly damaging	Het
Trio	A	T	15: 27,732,891 (GRCm38)	I2968N	probably damaging	Het
Ttc24	T	C	3: 88,074,874 (GRCm38)	E17G	probably benign	Het
Ttc41	A	G	10: 86,776,214 (GRCm38)	H1117R	probably benign	Het
Ttn	A	T	2: 76,762,386 (GRCm38)	S20801T	possibly damaging	Het
Ttn	A	T	2: 76,735,408 (GRCm38)	V28200D	probably damaging	Het
Ube3d	C	T	9: 86,448,787 (GRCm38)	C114Y	probably damaging	Het
Ugt2b37	A	C	5: 87,240,857 (GRCm38)	L499R	probably damaging	Het
Vmn1r81	T	C	7: 12,260,662 (GRCm38)	I6M	possibly damaging	Het
Vmn2r97	A	T	17: 18,929,331 (GRCm38)	Y327F	probably benign	Het
Vps13b	T	C	15: 35,709,507 (GRCm38)	S1867P	probably damaging	Het
Wdr11	T	C	7: 129,606,607 (GRCm38)	V362A	probably benign	Het
Zan	T	A	5: 137,388,939 (GRCm38)	M4951L	unknown	Het
Zcwpw1	T	A	5: 137,811,622 (GRCm38)	L337Q	probably damaging	Het
Zfp2	A	T	11: 50,899,982 (GRCm38)	D411E	possibly damaging	Het
Zfp628	C	T	7: 4,920,768 (GRCm38)	T663I	probably benign	Het
Zfpm1	T	A	8: 122,334,924 (GRCm38)		probably null	Het
Zfyve19	T	C	2: 119,211,212 (GRCm38)	S87P	probably benign	Het
Zswim9	T	A	7: 13,260,214 (GRCm38)	K672*	probably null	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
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
R9208:Hdc	UTSW	2	126,594,680 (GRCm38)	missense	probably benign	0.32
R9515:Hdc	UTSW	2	126,616,229 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TACTGAACTGGCAGCTGAAGG -3'
(R):5'- CAGAAGTTCCCATTGATGTTGAG -3'

Sequencing Primer
(F):5'- TGGCTGAGGTGAAGGCTACAC -3'
(R):5'- TTGATGTTGAGACAGCCACC -3'

Posted On

2014-07-14