Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Apoh'

470906

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

044141-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108286123-108305222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108286729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 51 (C51F)

Ref Sequence

ENSEMBL: ENSMUSP00000114214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000133383] [ENSMUST00000146050] [ENSMUST00000152958]

AlphaFold

Q01339

Predicted Effect

probably damaging
Transcript: ENSMUST00000000049
AA Change: C51F

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

SMART Domains

Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: C51F

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 damaging
Transcript: ENSMUST00000133383
AA Change: C51F

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

SMART Domains

Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049
AA Change: C51F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sushi	23	51	6.7e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146050

Predicted Effect

probably damaging
Transcript: ENSMUST00000152958
AA Change: C51F

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

SMART Domains

Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: C51F

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

0.9690

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,811 (GRCm39)	E180D	probably damaging	Het
Add3	A	G	19: 53,232,720 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,590,620 (GRCm39)	I4396N	probably damaging	Het
Apc	C	T	18: 34,450,199 (GRCm39)	S2331L	possibly damaging	Het
Arid4b	T	C	13: 14,317,648 (GRCm39)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 70,249,935 (GRCm39)	I343N	probably damaging	Het
Bcar1	T	C	8: 112,440,032 (GRCm39)	D654G	probably benign	Het
Brox	T	C	1: 183,064,072 (GRCm39)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,524,577 (GRCm39)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,047,562 (GRCm39)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,019,120 (GRCm39)	E478*	probably null	Het
Dgkq	A	T	5: 108,802,236 (GRCm39)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,339,057 (GRCm39)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,000,342 (GRCm39)	I93V	probably benign	Het
Ehmt2	C	T	17: 35,118,357 (GRCm39)	T44I	probably benign	Het
Enc1	T	C	13: 97,381,765 (GRCm39)	S92P	probably benign	Het
Epha5	T	C	5: 84,479,051 (GRCm39)		probably benign	Het
Eya4	T	A	10: 23,031,892 (GRCm39)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,173 (GRCm39)	I490F	possibly damaging	Het
Galntl6	A	G	8: 58,415,436 (GRCm39)	V239A	probably benign	Het
Glg1	T	C	8: 111,892,323 (GRCm39)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,876,893 (GRCm39)		noncoding transcript	Het
Gpd1l	C	T	9: 114,743,473 (GRCm39)	M142I	probably benign	Het
Helb	A	G	10: 119,927,653 (GRCm39)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,802,255 (GRCm39)	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,875,753 (GRCm39)	S154N	possibly damaging	Het
Ice2	A	T	9: 69,319,651 (GRCm39)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,067,819 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,535,801 (GRCm39)	D1447E	probably benign	Het
Larp1	G	T	11: 57,940,765 (GRCm39)	M630I	probably benign	Het
Lrp2	A	G	2: 69,326,667 (GRCm39)		probably null	Het
Map4k3	G	T	17: 80,911,427 (GRCm39)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,686,823 (GRCm39)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,855,956 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,998,222 (GRCm39)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,531 (GRCm39)	Y144H	probably damaging	Het
Or2f1b	G	T	6: 42,739,493 (GRCm39)	C169F	probably damaging	Het
Or5t5	G	T	2: 86,616,571 (GRCm39)	V166L	probably benign	Het
Padi1	T	C	4: 140,542,140 (GRCm39)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,756,049 (GRCm39)	D520E	probably benign	Het
Paox	G	A	7: 139,707,567 (GRCm39)	C130Y	probably damaging	Het
Parpbp	T	A	10: 87,975,769 (GRCm39)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,721,708 (GRCm39)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,405,229 (GRCm39)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,121,006 (GRCm39)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 115,967,419 (GRCm39)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,710,625 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,906,492 (GRCm39)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,598,011 (GRCm39)	S6L	probably benign	Het
Ptk2	T	G	15: 73,175,682 (GRCm39)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,948,811 (GRCm39)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,708,120 (GRCm39)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,106,085 (GRCm39)	F217I	probably damaging	Het
Serhl	T	C	15: 82,987,237 (GRCm39)		probably benign	Het
Sh3tc2	A	G	18: 62,123,078 (GRCm39)	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,502,714 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,769 (GRCm39)	I110T	probably benign	Het
Syde1	C	A	10: 78,425,150 (GRCm39)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 78,325,291 (GRCm39)		probably null	Het
Trmt44	C	A	5: 35,730,032 (GRCm39)		probably benign	Het
Ttbk2	G	T	2: 120,603,764 (GRCm39)	S256R	probably benign	Het
Ttll6	A	T	11: 96,036,336 (GRCm39)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm39)		probably null	Het
Wsb2	A	T	5: 117,515,600 (GRCm39)	T402S	probably damaging	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
R5634:Apoh	UTSW	11	108,302,875 (GRCm39)	missense	probably damaging	1.00
R5900:Apoh	UTSW	11	108,302,843 (GRCm39)	missense	probably damaging	0.99
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'- GTCATTAAGGTCGGATGAGATCTTG -3'
(R):5'- TGGGCACTCCGAACAGAATG -3'

Sequencing Primer
(F):5'- AACATCTTTCCCTTATATGCTAGGGG -3'
(R):5'- CCGAACAGAATGAAGTAGGTTTTCCC -3'

Posted On

2017-03-31