Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Apoh'

380505

Institutional Source

Beutler Lab

Gene Symbol

Apoh

Ensembl Gene

ENSMUSG00000000049

Gene Name

apolipoprotein H

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

R4937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108286123-108305222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108298204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 168 (D168G)

Ref Sequence

ENSEMBL: ENSMUSP00000000049 (fasta)

Gene Model

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

AlphaFold

Q01339

Predicted Effect

probably benign
Transcript: ENSMUST00000000049
AA Change: D168G

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: D168G

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,067 (GRCm39)	F597S	probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca16	G	T	7: 120,126,309 (GRCm39)	C1155F	probably damaging	Het
Adam26a	T	C	8: 44,021,918 (GRCm39)	D524G	probably damaging	Het
Adamts20	G	C	15: 94,277,656 (GRCm39)	H269D	probably benign	Het
Akap9	T	A	5: 4,100,145 (GRCm39)		probably null	Het
Akt3	T	C	1: 176,877,693 (GRCm39)	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,189,376 (GRCm39)	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974 (GRCm39)	S105P	probably benign	Het
Amph	A	G	13: 19,288,515 (GRCm39)	T335A	probably damaging	Het
Ank2	C	T	3: 126,756,050 (GRCm39)	V1056M	probably damaging	Het
Arfgef3	C	T	10: 18,465,454 (GRCm39)	A2130T	probably damaging	Het
Arhgap30	A	G	1: 171,230,897 (GRCm39)	D218G	probably benign	Het
Ascc3	C	T	10: 50,699,894 (GRCm39)	P1906S	probably damaging	Het
Atp11b	T	G	3: 35,861,157 (GRCm39)		probably null	Het
B4galnt2	A	G	11: 95,759,255 (GRCm39)	V343A	probably damaging	Het
Barhl1	T	C	2: 28,799,785 (GRCm39)	Y280C	probably damaging	Het
Bcar1	A	T	8: 112,447,669 (GRCm39)	Y103N	probably damaging	Het
Bid	A	G	6: 120,872,707 (GRCm39)	I150T	probably benign	Het
Ccdc171	T	C	4: 83,467,876 (GRCm39)	S74P	probably damaging	Het
Ccni	A	T	5: 93,336,113 (GRCm39)		probably null	Het
Cct8l1	A	G	5: 25,721,891 (GRCm39)	E202G	probably benign	Het
Cd200r3	A	G	16: 44,774,622 (GRCm39)	K212E	probably benign	Het
Cdh19	A	G	1: 110,817,694 (GRCm39)	S683P	probably damaging	Het
Ces2b	A	T	8: 105,559,413 (GRCm39)	H93L	probably benign	Het
Cimip2b	T	A	4: 43,427,514 (GRCm39)	Q270L	possibly damaging	Het
Clec4a1	G	A	6: 122,907,654 (GRCm39)	C114Y	probably damaging	Het
Dcc	G	T	18: 71,675,320 (GRCm39)	S636*	probably null	Het
Dcdc2c	T	C	12: 28,580,472 (GRCm39)	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,164,657 (GRCm39)	E150*	probably null	Het
Dhx30	A	G	9: 109,915,029 (GRCm39)	L884P	probably damaging	Het
Dmwd	T	G	7: 18,815,228 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,932,980 (GRCm39)	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,392,633 (GRCm39)	S447N	probably benign	Het
Elk4	G	A	1: 131,945,419 (GRCm39)	G99D	probably damaging	Het
Entpd1	A	T	19: 40,727,965 (GRCm39)		probably benign	Het
Fam114a1	T	A	5: 65,137,070 (GRCm39)	D4E	probably damaging	Het
Fbln2	A	G	6: 91,241,681 (GRCm39)	D754G	probably damaging	Het
Fhip2a	T	C	19: 57,367,069 (GRCm39)	V204A	probably benign	Het
Foxred2	T	C	15: 77,840,035 (GRCm39)	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591 (GRCm39)		probably benign	Het
Gm1818	G	A	12: 48,606,607 (GRCm39)		noncoding transcript	Het
Gm4894	C	A	9: 49,190,000 (GRCm39)	Q92K	unknown	Het
Gpx2	T	C	12: 76,839,574 (GRCm39)	I141M	probably benign	Het
Gusb	T	C	5: 130,024,326 (GRCm39)	T476A	probably damaging	Het
Hmmr	G	A	11: 40,612,667 (GRCm39)	T180I	possibly damaging	Het
Itgbl1	T	C	14: 124,210,780 (GRCm39)	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,187,951 (GRCm39)	C93*	probably null	Het
Ldaf1	T	C	7: 119,715,535 (GRCm39)	S120P	probably damaging	Het
Lpar3	A	G	3: 145,990,506 (GRCm39)	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,692,897 (GRCm39)		probably null	Het
Lrrc63	C	T	14: 75,322,389 (GRCm39)	G572S	probably damaging	Het
Mapk11	A	T	15: 89,030,685 (GRCm39)	D98E	probably benign	Het
Mgat4f	T	A	1: 134,317,714 (GRCm39)	M162K	probably benign	Het
Net1	G	A	13: 3,934,905 (GRCm39)	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005 (GRCm38)		noncoding transcript	Het
Nrap	T	A	19: 56,335,652 (GRCm39)	Y923F	probably damaging	Het
Or13a20	T	A	7: 140,232,534 (GRCm39)	M214K	probably benign	Het
Or4c108	T	A	2: 88,803,834 (GRCm39)	I134F	probably damaging	Het
Or6c215	A	T	10: 129,637,932 (GRCm39)	V154E	probably benign	Het
Plxnc1	A	G	10: 94,677,335 (GRCm39)	V964A	probably damaging	Het
Pmfbp1	A	G	8: 110,262,498 (GRCm39)	I731V	probably benign	Het
Polq	T	A	16: 36,848,274 (GRCm39)	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,811,620 (GRCm39)	D387G	probably benign	Het
Pramel25	T	C	4: 143,520,407 (GRCm39)	V53A	possibly damaging	Het
Prmt2	G	A	10: 76,056,842 (GRCm39)	T227I	probably damaging	Het
Psmd1	T	A	1: 86,010,947 (GRCm39)	F341I	probably damaging	Het
Ptpn23	T	C	9: 110,221,806 (GRCm39)	M127V	probably benign	Het
Ptprc	A	G	1: 138,017,238 (GRCm39)	F483L	probably damaging	Het
Rab35	A	C	5: 115,778,147 (GRCm39)	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,548,143 (GRCm39)	T486A	probably damaging	Het
Rgl3	A	T	9: 21,899,004 (GRCm39)	C68*	probably null	Het
Rilpl1	T	C	5: 124,653,594 (GRCm39)	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,393,520 (GRCm39)	I354V	probably benign	Het
Rspo3	T	C	10: 29,382,524 (GRCm39)	D50G	probably damaging	Het
Sbno1	A	G	5: 124,512,672 (GRCm39)	S1366P	possibly damaging	Het
Sema3c	A	G	5: 17,899,684 (GRCm39)	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,436,935 (GRCm39)	Y85F	probably benign	Het
Shprh	C	T	10: 11,032,863 (GRCm39)	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,388,103 (GRCm39)	S110P	probably benign	Het
Slc16a12	T	A	19: 34,652,643 (GRCm39)	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,109,268 (GRCm39)	S221P	probably damaging	Het
Slc35b3	A	T	13: 39,116,887 (GRCm39)	I366K	possibly damaging	Het
Slc44a5	T	C	3: 153,949,252 (GRCm39)		probably null	Het
Slc5a12	A	T	2: 110,450,753 (GRCm39)	D316V	probably damaging	Het
Ssr3	A	G	3: 65,299,874 (GRCm39)	S29P	probably damaging	Het
Taf2	G	A	15: 54,890,619 (GRCm39)	Q1055*	probably null	Het
Them6	A	T	15: 74,593,367 (GRCm39)	D75V	probably damaging	Het
Tom1l2	A	G	11: 60,149,744 (GRCm39)	S239P	probably damaging	Het
Tspear	A	G	10: 77,710,877 (GRCm39)	T500A	probably damaging	Het
Tubgcp6	G	A	15: 88,985,752 (GRCm39)	A1487V	probably damaging	Het
Uba7	G	A	9: 107,856,190 (GRCm39)	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147 (GRCm39)	C901*	probably null	Het
Vmn1r172	A	T	7: 23,359,312 (GRCm39)	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,215,010 (GRCm39)	Y331F	probably benign	Het
Wdr55	G	A	18: 36,895,451 (GRCm39)	V143I	probably benign	Het
Zbtb49	A	T	5: 38,371,307 (GRCm39)	D191E	possibly damaging	Het
Zfhx4	A	G	3: 5,307,071 (GRCm39)	H99R	probably damaging	Het
Zfp1005	C	T	2: 150,110,680 (GRCm39)	H457Y	unknown	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,478,354 (GRCm39)	A177V	probably benign	Het
Zfp653	C	T	9: 21,967,074 (GRCm39)	E604K	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
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
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'- CGTTCTGAGATGAGTGTATTTTAGCT -3'
(R):5'- ATGTTCCTGGCAGTTGGC -3'

Sequencing Primer
(F):5'- GCTGGCATTGAACTCACACTG -3'
(R):5'- ACTTACCCAGGCATTCTG -3'

Posted On

2016-04-15