Incidental Mutation 'R6054:Apoh'
ID 484323
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 044222-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R6054 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 108286123-108305222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108286801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 75 (N75S)
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: N75S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: N75S

DomainStartEndE-ValueType
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: ENSMUST00000133383
SMART Domains Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049

DomainStartEndE-ValueType
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: N75S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: N75S

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,653,729 (GRCm39) S93P unknown Het
Adam28 T A 14: 68,879,601 (GRCm39) N149I probably benign Het
Adam4 A C 12: 81,466,828 (GRCm39) F598V probably damaging Het
Adh5 A G 3: 138,151,136 (GRCm39) H33R possibly damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atm T C 9: 53,371,173 (GRCm39) D2225G probably damaging Het
Atp6v0a1 C T 11: 100,930,715 (GRCm39) P514L possibly damaging Het
Brd9 T A 13: 74,088,860 (GRCm39) M195K probably damaging Het
Cacna1a T G 8: 85,283,414 (GRCm39) S755A probably damaging Het
Ccdc85c T A 12: 108,241,028 (GRCm39) H122L unknown Het
Ccs A T 19: 4,875,893 (GRCm39) D192E probably benign Het
Cd3e G A 9: 44,913,459 (GRCm39) T92M possibly damaging Het
Celsr2 A G 3: 108,314,279 (GRCm39) F1249L possibly damaging Het
Col16a1 G A 4: 129,955,515 (GRCm39) probably benign Het
Col17a1 A G 19: 47,668,859 (GRCm39) Y122H probably damaging Het
Col28a1 G A 6: 8,083,748 (GRCm39) P570S possibly damaging Het
Dchs2 A T 3: 83,253,543 (GRCm39) I2318L probably benign Het
Dhx35 T A 2: 158,660,219 (GRCm39) Y184N probably benign Het
Dmxl1 T G 18: 49,990,453 (GRCm39) N297K probably benign Het
Dsp G A 13: 38,351,585 (GRCm39) G135S probably benign Het
Efhb C T 17: 53,706,027 (GRCm39) V837I possibly damaging Het
Efs C T 14: 55,158,614 (GRCm39) D15N probably damaging Het
Fbxl19 C T 7: 127,351,681 (GRCm39) T314I probably damaging Het
Gm11595 A T 11: 99,663,474 (GRCm39) C69S unknown Het
Grxcr2 A G 18: 42,119,743 (GRCm39) V199A probably benign Het
Hadha T C 5: 30,328,682 (GRCm39) E468G probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,217 (GRCm39) V125E probably damaging Het
Hrg A T 16: 22,772,412 (GRCm39) T74S probably benign Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Leng8 C A 7: 4,148,522 (GRCm39) probably null Het
Maml2 TCAGCAGCAGCAGCAGCAGC TCAGCAGCAGCAGCAGC 9: 13,532,695 (GRCm39) probably benign Het
Mctp2 T C 7: 71,908,851 (GRCm39) H154R probably benign Het
Megf6 A G 4: 154,347,636 (GRCm39) E777G probably benign Het
Miip A G 4: 147,950,135 (GRCm39) S154P probably benign Het
Mprip T C 11: 59,649,251 (GRCm39) V985A probably benign Het
Nmrk2 G A 10: 81,035,468 (GRCm39) R158W probably damaging Het
Nsd2 T C 5: 34,039,505 (GRCm39) S180P probably damaging Het
Oga A G 19: 45,764,571 (GRCm39) S190P probably damaging Het
Opa1 T G 16: 29,433,952 (GRCm39) S596A probably damaging Het
Or1ad1 G A 11: 50,875,631 (GRCm39) M34I probably benign Het
Or51b4 A G 7: 103,531,033 (GRCm39) V139A probably damaging Het
Pcdha2 A G 18: 37,073,857 (GRCm39) E496G probably damaging Het
Pcdhb5 T G 18: 37,454,133 (GRCm39) V171G probably damaging Het
Pramel6 A G 2: 87,339,003 (GRCm39) T68A probably benign Het
Ptprq T C 10: 107,418,219 (GRCm39) Y1719C probably damaging Het
Pzp T C 6: 128,490,727 (GRCm39) N412S probably benign Het
Rb1cc1 G T 1: 6,320,058 (GRCm39) R1159L probably benign Het
Rev3l T A 10: 39,700,146 (GRCm39) S1548T probably benign Het
Rora A G 9: 69,286,084 (GRCm39) I471M probably benign Het
Scube1 C A 15: 83,535,877 (GRCm39) V266L probably benign Het
Sema6a C T 18: 47,416,470 (GRCm39) D386N possibly damaging Het
Siglecf T A 7: 43,004,430 (GRCm39) L253Q probably damaging Het
Spata31d1b A G 13: 59,863,464 (GRCm39) H204R probably benign Het
Syt17 T C 7: 118,007,356 (GRCm39) T313A possibly damaging Het
Tbc1d32 T C 10: 56,038,304 (GRCm39) T578A possibly damaging Het
Trpm1 A G 7: 63,918,450 (GRCm39) S597G probably benign Het
Vmn2r9 T A 5: 108,996,126 (GRCm39) H174L probably damaging Het
Vrk2 A T 11: 26,436,975 (GRCm39) S281T probably benign Het
Wdr48 A G 9: 119,736,843 (GRCm39) D22G probably damaging Het
Zfp408 C A 2: 91,479,636 (GRCm39) V61L probably benign Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T probably benign Het
Other mutations in Apoh
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5951:Apoh UTSW 11 108,286,729 (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'- TGTGTTCAGTCTGTCCGAAGC -3'
(R):5'- TGGCAACACTTCTCCACTAC -3'

Sequencing Primer
(F):5'- GAAGCCGGATGACCTACCATTTG -3'
(R):5'- GGCAACACTTCTCCACTACTTGTC -3'
Posted On 2017-07-14