Mutagenetix > Incidental Mutation

Incidental Mutation 'R5634:Apoh'

440046

Institutional Source

Beutler Lab

Gene Symbol

Apoh

Ensembl Gene

ENSMUSG00000000049

Gene Name

apolipoprotein H

Synonyms

B2GPI, beta-2-glycoprotein 1, beta-2-GPI

MMRRC Submission

043285-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R5634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108286123-108305222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108302875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 280 (V280E)

Ref Sequence

ENSEMBL: ENSMUSP00000000049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000152958]

AlphaFold

Q01339

Predicted Effect

probably damaging
Transcript: ENSMUST00000000049
AA Change: V280E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: V280E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	23	79	1.35e-7	SMART
CCP	84	137	2.53e-12	SMART
CCP	142	200	4.92e-10	SMART
CCP	205	260	1.98e-14	SMART
CCP	264	325	2.51e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152958

SMART Domains

Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	23	79	1.35e-7	SMART
CCP	84	137	2.53e-12	SMART

Meta Mutation Damage Score

0.4649

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,921 (GRCm39)		probably benign	Het
Aen	A	T	7: 78,552,255 (GRCm39)	T34S	probably benign	Het
Ccdc87	A	G	19: 4,890,693 (GRCm39)	H395R	probably benign	Het
Ccrl2	T	A	9: 110,885,055 (GRCm39)		probably null	Het
Cdh20	T	C	1: 104,902,800 (GRCm39)	F497S	probably damaging	Het
Cfap54	C	A	10: 92,740,125 (GRCm39)		probably benign	Het
Cimap1b	T	A	15: 89,262,410 (GRCm39)	T70S	probably benign	Het
Cipc	T	A	12: 86,999,749 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,381,694 (GRCm39)	Y1756N	probably damaging	Het
Cyp2c54	G	A	19: 40,060,858 (GRCm39)	A95V	possibly damaging	Het
Dcdc5	A	G	2: 106,234,325 (GRCm39)		noncoding transcript	Het
Dnah17	T	C	11: 117,943,752 (GRCm39)		probably null	Het
Eepd1	A	T	9: 25,514,849 (GRCm39)	N552I	probably benign	Het
Eif2ak4	A	T	2: 118,292,792 (GRCm39)	R1218W	probably damaging	Het
Fbxw18	T	A	9: 109,505,871 (GRCm39)	I467F	possibly damaging	Het
Ffar4	GCTTCTT	GCTT	19: 38,102,373 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpha2	A	G	19: 6,276,890 (GRCm39)	T25A	probably benign	Het
Grin3a	T	A	4: 49,792,843 (GRCm39)	I297F	probably damaging	Het
Herc2	G	A	7: 55,856,531 (GRCm39)	G3924R	probably damaging	Het
Hmcn2	G	T	2: 31,223,893 (GRCm39)	D97Y	probably damaging	Het
Igdcc4	G	A	9: 65,041,828 (GRCm39)	G1131D	probably benign	Het
Il18rap	T	C	1: 40,578,536 (GRCm39)		probably benign	Het
Ino80d	C	A	1: 63,101,442 (GRCm39)		probably benign	Het
Klhl1	T	C	14: 96,477,707 (GRCm39)	T454A	probably damaging	Het
Krt84	C	A	15: 101,437,084 (GRCm39)	V360L	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc37	T	C	11: 103,432,840 (GRCm39)	N1267S	possibly damaging	Het
Mapkbp1	A	G	2: 119,803,576 (GRCm39)	N15S	probably damaging	Het
Med13l	T	C	5: 118,698,915 (GRCm39)	F22S	possibly damaging	Het
Mrc2	T	A	11: 105,227,040 (GRCm39)	C548*	probably null	Het
Nacad	T	C	11: 6,552,387 (GRCm39)	E268G	possibly damaging	Het
Nfxl1	A	G	5: 72,686,833 (GRCm39)	C527R	probably damaging	Het
Nphp1	A	T	2: 127,601,570 (GRCm39)	C412S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4g16	A	G	2: 111,137,437 (GRCm39)	I296V	probably benign	Het
Per2	C	T	1: 91,372,429 (GRCm39)	C215Y	probably benign	Het
Pias1	T	C	9: 62,803,255 (GRCm39)	T343A	probably benign	Het
Pja2	C	T	17: 64,599,862 (GRCm39)	V541M	probably damaging	Het
Plxna4	G	A	6: 32,214,658 (GRCm39)	Q608*	probably null	Het
Ppil4	T	A	10: 7,690,542 (GRCm39)	D398E	probably benign	Het
Ppp4r3a	T	A	12: 101,009,780 (GRCm39)	D8V	probably damaging	Het
Pstk	A	C	7: 130,973,072 (GRCm39)	D57A	probably damaging	Het
Ptprd	T	C	4: 75,990,255 (GRCm39)	I53V	probably benign	Het
Pyroxd2	A	G	19: 42,728,924 (GRCm39)	F159L	probably benign	Het
Rnf103	A	G	6: 71,486,601 (GRCm39)	M411V	probably benign	Het
Scn4a	T	C	11: 106,220,830 (GRCm39)	D943G	probably benign	Het
Sdk2	T	C	11: 113,742,540 (GRCm39)	T790A	probably damaging	Het
Sfr1	T	C	19: 47,722,310 (GRCm39)	L242P	probably damaging	Het
Snx25	T	C	8: 46,494,428 (GRCm39)	D819G	possibly damaging	Het
Sult2b1	A	G	7: 45,383,506 (GRCm39)	V183A	probably damaging	Het
Tcf4	C	A	18: 69,769,918 (GRCm39)	S8R	possibly damaging	Het
Ttc7	A	G	17: 87,649,515 (GRCm39)	D531G	probably benign	Het
Uap1l1	A	C	2: 25,254,145 (GRCm39)	C271G	probably damaging	Het
Ubtf	T	C	11: 102,201,150 (GRCm39)	Y268C	probably damaging	Het
Vinac1	A	T	2: 128,881,406 (GRCm39)	D173E	probably benign	Het
Zfp951	A	T	5: 104,963,155 (GRCm39)	M137K	probably benign	Het

Other mutations in Apoh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Apoh	APN	11	108,286,660 (GRCm39)	missense	probably benign	0.45
IGL01327:Apoh	APN	11	108,288,187 (GRCm39)	missense	probably damaging	1.00
IGL01353:Apoh	APN	11	108,288,211 (GRCm39)	missense	probably damaging	1.00
IGL01464:Apoh	APN	11	108,286,716 (GRCm39)	missense	probably damaging	1.00
IGL02065:Apoh	APN	11	108,305,131 (GRCm39)	utr 3 prime	probably benign
IGL02646:Apoh	APN	11	108,302,968 (GRCm39)	missense	probably benign	0.15
R0125:Apoh	UTSW	11	108,302,899 (GRCm39)	missense	probably damaging	1.00
R0359:Apoh	UTSW	11	108,288,199 (GRCm39)	missense	probably damaging	1.00
R1969:Apoh	UTSW	11	108,298,288 (GRCm39)	missense	probably benign	0.00
R2280:Apoh	UTSW	11	108,300,006 (GRCm39)	nonsense	probably null
R2568:Apoh	UTSW	11	108,295,697 (GRCm39)	missense	probably benign	0.00
R4369:Apoh	UTSW	11	108,288,205 (GRCm39)	missense	probably damaging	1.00
R4789:Apoh	UTSW	11	108,300,064 (GRCm39)	missense	probably damaging	1.00
R4824:Apoh	UTSW	11	108,305,087 (GRCm39)	missense	probably benign	0.37
R4937:Apoh	UTSW	11	108,298,204 (GRCm39)	missense	probably benign	0.19
R5900:Apoh	UTSW	11	108,302,843 (GRCm39)	missense	probably damaging	0.99
R5951:Apoh	UTSW	11	108,286,729 (GRCm39)	missense	probably damaging	1.00
R6054:Apoh	UTSW	11	108,286,801 (GRCm39)	missense	probably damaging	1.00
R6126:Apoh	UTSW	11	108,288,199 (GRCm39)	missense	probably damaging	1.00
R7343:Apoh	UTSW	11	108,286,674 (GRCm39)	missense	probably benign	0.14
R7471:Apoh	UTSW	11	108,298,131 (GRCm39)	missense	probably damaging	1.00
R8557:Apoh	UTSW	11	108,300,062 (GRCm39)	missense	probably damaging	0.99
R9310:Apoh	UTSW	11	108,298,307 (GRCm39)	critical splice donor site	probably null
R9671:Apoh	UTSW	11	108,286,792 (GRCm39)	nonsense	probably null
X0065:Apoh	UTSW	11	108,286,176 (GRCm39)	missense	probably damaging	1.00
Z1176:Apoh	UTSW	11	108,234,285 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACCTACATGTGGATGTCAC -3'
(R):5'- TCACTCATAACTGGCTGGTG -3'

Sequencing Primer
(F):5'- TGGGCTCACATGCATCATG -3'
(R):5'- CACTCATAACTGGCTGGTGATAGC -3'

Posted On

2016-11-08