Incidental Mutation 'R1695:Hdlbp'
ID 192091
Institutional Source Beutler Lab
Gene Symbol Hdlbp
Ensembl Gene ENSMUSG00000034088
Gene Name high density lipoprotein (HDL) binding protein
Synonyms 1110005P14Rik, D1Ertd101e
MMRRC Submission 039728-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R1695 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93333662-93406537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93364922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 115 (L115P)
Ref Sequence ENSEMBL: ENSMUSP00000139719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164] [ENSMUST00000186787] [ENSMUST00000188165] [ENSMUST00000188988] [ENSMUST00000189025] [ENSMUST00000190321]
AlphaFold Q8VDJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000042498
AA Change: L115P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: L115P

DomainStartEndE-ValueType
KH 149 217 1.97e-15 SMART
KH 221 289 1.8e-9 SMART
KH 294 362 1.73e-11 SMART
KH 363 429 2.66e-12 SMART
KH 434 502 9.18e-16 SMART
KH 506 575 7.52e-12 SMART
KH 580 648 7.68e-18 SMART
KH 652 721 3.24e-16 SMART
KH 726 795 1.33e-12 SMART
KH 799 868 2.48e-12 SMART
KH 872 972 3.03e-16 SMART
KH 973 1039 4.56e-11 SMART
KH 1051 1122 3.67e-15 SMART
KH 1126 1195 3.37e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170883
AA Change: L115P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: L115P

DomainStartEndE-ValueType
KH 149 217 1.97e-15 SMART
KH 221 289 1.8e-9 SMART
KH 294 362 1.73e-11 SMART
KH 363 429 2.66e-12 SMART
KH 434 502 9.18e-16 SMART
KH 506 575 7.52e-12 SMART
KH 580 648 7.68e-18 SMART
KH 652 721 3.24e-16 SMART
KH 726 795 1.33e-12 SMART
KH 799 868 2.48e-12 SMART
KH 872 972 3.03e-16 SMART
KH 973 1039 4.56e-11 SMART
KH 1051 1122 3.67e-15 SMART
KH 1126 1195 3.37e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185349
Predicted Effect probably damaging
Transcript: ENSMUST00000186164
AA Change: L115P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: L115P

DomainStartEndE-ValueType
KH 149 217 1.2e-17 SMART
KH 221 289 1.1e-11 SMART
KH 294 360 1.6e-14 SMART
KH 365 433 5.7e-18 SMART
KH 437 506 4.6e-14 SMART
KH 511 579 4.7e-20 SMART
KH 583 652 2e-18 SMART
KH 657 726 7.9e-15 SMART
KH 730 799 1.5e-14 SMART
KH 803 903 1.8e-18 SMART
KH 904 970 2.8e-13 SMART
KH 982 1053 2.2e-17 SMART
KH 1057 1126 2e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186787
AA Change: L115P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139719
Gene: ENSMUSG00000034088
AA Change: L115P

DomainStartEndE-ValueType
Blast:KH 74 140 2e-26 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000188165
Predicted Effect probably damaging
Transcript: ENSMUST00000188988
AA Change: L115P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140946
Gene: ENSMUSG00000034088
AA Change: L115P

DomainStartEndE-ValueType
Blast:KH 74 148 2e-28 BLAST
Pfam:KH_1 152 177 2e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189025
AA Change: L115P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140399
Gene: ENSMUSG00000034088
AA Change: L115P

DomainStartEndE-ValueType
Blast:KH 74 130 2e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189951
Predicted Effect probably benign
Transcript: ENSMUST00000190321
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T A 5: 121,638,970 (GRCm39) T692S probably benign Het
Adgrf3 T A 5: 30,408,553 (GRCm39) N75I probably benign Het
Adgrg5 A G 8: 95,664,373 (GRCm39) M328V probably damaging Het
Adk A G 14: 21,431,668 (GRCm39) D286G probably benign Het
Ankrd28 T A 14: 31,429,201 (GRCm39) D917V probably damaging Het
Appl2 C T 10: 83,457,446 (GRCm39) D141N probably damaging Het
Arfgef2 T C 2: 166,706,632 (GRCm39) V952A probably damaging Het
Arpc2 T A 1: 74,287,391 (GRCm39) H70Q probably damaging Het
Bpifa5 T C 2: 154,009,580 (GRCm39) L261P probably damaging Het
Brca1 G T 11: 101,415,281 (GRCm39) T951K probably damaging Het
Ccdc73 A T 2: 104,822,450 (GRCm39) S800C probably damaging Het
Cdh15 C G 8: 123,588,755 (GRCm39) D276E probably benign Het
Cfap119 A G 7: 127,186,745 (GRCm39) probably null Het
Cfap418 T A 4: 10,874,644 (GRCm39) D10E probably damaging Het
Cfh T C 1: 140,030,575 (GRCm39) I551V probably damaging Het
Chd7 T A 4: 8,833,960 (GRCm39) L1238Q probably damaging Het
Chd9 T G 8: 91,728,410 (GRCm39) F1275L probably damaging Het
Chrnb3 A G 8: 27,883,728 (GRCm39) Y155C probably damaging Het
Cltc C A 11: 86,591,886 (GRCm39) probably null Het
Ctsll3 T A 13: 60,948,791 (GRCm39) N55Y probably damaging Het
Cysltr2 T C 14: 73,267,321 (GRCm39) M130V probably benign Het
Daglb T C 5: 143,480,361 (GRCm39) M455T probably benign Het
Dbn1 A G 13: 55,624,521 (GRCm39) S343P probably benign Het
Dnah2 T A 11: 69,405,517 (GRCm39) D665V possibly damaging Het
Dusp6 T A 10: 99,099,555 (GRCm39) M1K probably null Het
Eif3m T C 2: 104,847,298 (GRCm39) E12G probably damaging Het
Epha2 T C 4: 141,033,828 (GRCm39) V29A possibly damaging Het
Farp2 T A 1: 93,488,047 (GRCm39) N91K probably damaging Het
Ferd3l C A 12: 33,978,971 (GRCm39) S161R probably benign Het
Fgd2 A T 17: 29,587,219 (GRCm39) D315V possibly damaging Het
Fhip2a T C 19: 57,367,603 (GRCm39) W337R probably damaging Het
Fstl4 T A 11: 53,056,705 (GRCm39) probably null Het
Grm5 A G 7: 87,685,311 (GRCm39) D476G possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hk2 T A 6: 82,721,932 (GRCm39) N136Y probably damaging Het
Hs2st1 G T 3: 144,140,415 (GRCm39) A302E probably benign Het
Htr7 T C 19: 35,947,136 (GRCm39) N293D probably benign Het
Ikbkb T A 8: 23,163,496 (GRCm39) E271D probably benign Het
Il5ra A T 6: 106,715,335 (GRCm39) Y166* probably null Het
Il9r T A 11: 32,143,227 (GRCm39) H244L probably benign Het
Itih4 T C 14: 30,613,456 (GRCm39) probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Large1 A T 8: 73,544,710 (GRCm39) D689E probably damaging Het
Limk2 A G 11: 3,303,275 (GRCm39) probably null Het
Med15 A G 16: 17,540,644 (GRCm39) F34S probably damaging Het
Mprip C T 11: 59,643,357 (GRCm39) T505I probably damaging Het
Mtor T A 4: 148,623,364 (GRCm39) N2071K probably benign Het
Muc16 A G 9: 18,408,729 (GRCm39) L2522P probably damaging Het
Myd88 A T 9: 119,166,908 (GRCm39) probably null Het
Myo7a A C 7: 97,741,703 (GRCm39) F484V possibly damaging Het
Nme1 A C 11: 93,851,593 (GRCm39) L81R probably benign Het
Ntn4 T A 10: 93,569,464 (GRCm39) probably null Het
Or2y13 T C 11: 49,415,162 (GRCm39) V204A probably benign Het
Or4p19 T C 2: 88,242,444 (GRCm39) D186G probably damaging Het
Or51l4 A T 7: 103,404,131 (GRCm39) Y220* probably null Het
Otogl T G 10: 107,649,878 (GRCm39) N1159T probably damaging Het
Pabpc6 G A 17: 9,887,003 (GRCm39) T516I probably benign Het
Pcdh1 C T 18: 38,335,921 (GRCm39) R238H probably damaging Het
Pex5l T A 3: 33,008,531 (GRCm39) N151I probably benign Het
Plekha7 T C 7: 115,727,920 (GRCm39) N980S probably damaging Het
Reg4 C T 3: 98,143,677 (GRCm39) T157I probably benign Het
Rev3l A T 10: 39,700,612 (GRCm39) E1703V probably damaging Het
Rev3l G T 10: 39,700,611 (GRCm39) E1703* probably null Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Saal1 T C 7: 46,342,340 (GRCm39) K368E probably damaging Het
Scn9a C T 2: 66,335,220 (GRCm39) W1245* probably null Het
Slc38a11 T A 2: 65,147,315 (GRCm39) L387F probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sptb C A 12: 76,667,641 (GRCm39) V819L probably benign Het
Sptbn1 T C 11: 30,086,124 (GRCm39) T1195A probably benign Het
Ssna1 C A 2: 25,162,024 (GRCm39) V57F possibly damaging Het
Stk32a G T 18: 43,446,485 (GRCm39) E312* probably null Het
Synpo A G 18: 60,736,459 (GRCm39) F496L probably benign Het
Syt15 C T 14: 33,944,858 (GRCm39) T135M probably benign Het
Tm9sf4 A G 2: 153,032,832 (GRCm39) E246G probably benign Het
Trim44 T C 2: 102,187,830 (GRCm39) M308V possibly damaging Het
Unc119b T A 5: 115,272,885 (GRCm39) K29* probably null Het
Vim T A 2: 13,584,921 (GRCm39) D367E probably benign Het
Virma T A 4: 11,494,814 (GRCm39) N38K probably damaging Het
Vmn1r228 A T 17: 20,996,560 (GRCm39) D319E possibly damaging Het
Vmn2r32 T A 7: 7,466,991 (GRCm39) I846F probably benign Het
Vps13b T C 15: 35,576,667 (GRCm39) V1025A probably benign Het
Vps13c G T 9: 67,879,357 (GRCm39) E566* probably null Het
Other mutations in Hdlbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Hdlbp APN 1 93,357,891 (GRCm39) missense probably benign 0.00
IGL01321:Hdlbp APN 1 93,351,524 (GRCm39) missense probably damaging 1.00
IGL01387:Hdlbp APN 1 93,341,310 (GRCm39) missense possibly damaging 0.91
IGL01443:Hdlbp APN 1 93,358,796 (GRCm39) missense probably damaging 0.99
IGL01467:Hdlbp APN 1 93,345,420 (GRCm39) splice site probably benign
IGL02223:Hdlbp APN 1 93,340,171 (GRCm39) missense probably damaging 1.00
IGL02274:Hdlbp APN 1 93,336,229 (GRCm39) splice site probably null
IGL02452:Hdlbp APN 1 93,345,233 (GRCm39) missense probably damaging 1.00
IGL03079:Hdlbp APN 1 93,341,662 (GRCm39) splice site probably benign
IGL03169:Hdlbp APN 1 93,344,309 (GRCm39) missense possibly damaging 0.92
IGL03229:Hdlbp APN 1 93,357,909 (GRCm39) missense probably benign 0.00
R0119:Hdlbp UTSW 1 93,349,059 (GRCm39) splice site probably benign
R0432:Hdlbp UTSW 1 93,353,054 (GRCm39) missense probably damaging 1.00
R0508:Hdlbp UTSW 1 93,342,533 (GRCm39) critical splice donor site probably null
R0530:Hdlbp UTSW 1 93,358,039 (GRCm39) unclassified probably benign
R1276:Hdlbp UTSW 1 93,348,823 (GRCm39) missense probably benign 0.12
R1302:Hdlbp UTSW 1 93,351,107 (GRCm39) splice site probably null
R1331:Hdlbp UTSW 1 93,348,853 (GRCm39) missense probably damaging 1.00
R1537:Hdlbp UTSW 1 93,345,096 (GRCm39) missense probably benign 0.01
R1623:Hdlbp UTSW 1 93,351,591 (GRCm39) missense probably damaging 1.00
R1897:Hdlbp UTSW 1 93,350,007 (GRCm39) intron probably benign
R1900:Hdlbp UTSW 1 93,349,959 (GRCm39) intron probably benign
R1984:Hdlbp UTSW 1 93,358,840 (GRCm39) missense probably damaging 0.98
R1985:Hdlbp UTSW 1 93,358,840 (GRCm39) missense probably damaging 0.98
R2066:Hdlbp UTSW 1 93,349,602 (GRCm39) intron probably benign
R2277:Hdlbp UTSW 1 93,335,900 (GRCm39) nonsense probably null
R2349:Hdlbp UTSW 1 93,349,956 (GRCm39) intron probably benign
R3434:Hdlbp UTSW 1 93,355,883 (GRCm39) missense probably benign 0.04
R3978:Hdlbp UTSW 1 93,349,073 (GRCm39) missense probably damaging 1.00
R4645:Hdlbp UTSW 1 93,349,842 (GRCm39) intron probably benign
R5196:Hdlbp UTSW 1 93,347,915 (GRCm39) missense probably damaging 1.00
R5760:Hdlbp UTSW 1 93,368,499 (GRCm39) intron probably benign
R6327:Hdlbp UTSW 1 93,357,186 (GRCm39) missense possibly damaging 0.87
R6420:Hdlbp UTSW 1 93,358,726 (GRCm39) missense probably damaging 1.00
R6428:Hdlbp UTSW 1 93,359,167 (GRCm39) missense possibly damaging 0.91
R6468:Hdlbp UTSW 1 93,345,389 (GRCm39) missense possibly damaging 0.48
R6488:Hdlbp UTSW 1 93,355,946 (GRCm39) missense probably damaging 1.00
R6592:Hdlbp UTSW 1 93,340,083 (GRCm39) critical splice donor site probably null
R6920:Hdlbp UTSW 1 93,340,083 (GRCm39) critical splice donor site probably null
R7156:Hdlbp UTSW 1 93,341,637 (GRCm39) missense probably damaging 1.00
R7391:Hdlbp UTSW 1 93,358,783 (GRCm39) missense possibly damaging 0.93
R7457:Hdlbp UTSW 1 93,355,944 (GRCm39) missense probably benign 0.04
R7498:Hdlbp UTSW 1 93,341,337 (GRCm39) missense probably benign 0.00
R7554:Hdlbp UTSW 1 93,365,031 (GRCm39) missense probably damaging 0.96
R7593:Hdlbp UTSW 1 93,358,005 (GRCm39) missense probably benign 0.01
R7672:Hdlbp UTSW 1 93,364,821 (GRCm39) missense possibly damaging 0.90
R7801:Hdlbp UTSW 1 93,358,029 (GRCm39) splice site probably null
R7904:Hdlbp UTSW 1 93,351,092 (GRCm39) missense probably damaging 1.00
R8062:Hdlbp UTSW 1 93,366,064 (GRCm39) missense probably benign 0.10
R8113:Hdlbp UTSW 1 93,344,917 (GRCm39) missense probably damaging 0.98
R8557:Hdlbp UTSW 1 93,341,219 (GRCm39) missense probably damaging 0.96
R8690:Hdlbp UTSW 1 93,341,640 (GRCm39) missense probably damaging 0.96
R8850:Hdlbp UTSW 1 93,359,053 (GRCm39) missense probably damaging 0.97
R9288:Hdlbp UTSW 1 93,336,773 (GRCm39) missense probably benign 0.01
R9615:Hdlbp UTSW 1 93,358,014 (GRCm39) missense probably benign 0.06
RF020:Hdlbp UTSW 1 93,368,456 (GRCm39) missense probably benign
Z1088:Hdlbp UTSW 1 93,359,076 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGCAGAAAAGCTCTGGCCTACAC -3'
(R):5'- AAACTCTTGATGCTGCCTCTCAGTC -3'

Sequencing Primer
(F):5'- GCTCTGGCCTACACCAGAATG -3'
(R):5'- GTGCTACTTTCTCTTCAGAAAGG -3'
Posted On 2014-05-14