Incidental Mutation 'R1852:Bltp2'
ID 208237
Institutional Source Beutler Lab
Gene Symbol Bltp2
Ensembl Gene ENSMUSG00000010277
Gene Name bridge-like lipid transfer protein family member 2
Synonyms 2610507B11Rik
MMRRC Submission 039876-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1852 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78152578-78181449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78159299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 499 (D499G)
Ref Sequence ENSEMBL: ENSMUSP00000010421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010421]
AlphaFold Q5SYL3
Predicted Effect probably damaging
Transcript: ENSMUST00000010421
AA Change: D499G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: D499G

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
Pfam:Fmp27 26 475 1.6e-45 PFAM
Pfam:Fmp27 446 674 3.2e-24 PFAM
low complexity region 719 734 N/A INTRINSIC
low complexity region 785 798 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
Fmp27_GFWDK 1028 1160 3.01e-61 SMART
low complexity region 1415 1421 N/A INTRINSIC
low complexity region 1690 1701 N/A INTRINSIC
Pfam:Apt1 1703 2176 2.4e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141331
Predicted Effect probably benign
Transcript: ENSMUST00000145145
SMART Domains Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277

DomainStartEndE-ValueType
Pfam:Fmp27_GFWDK 1 52 1.2e-20 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,246,629 (GRCm39) probably null Het
4930433I11Rik T A 7: 40,643,037 (GRCm39) D326E probably benign Het
Abca8a T C 11: 109,960,212 (GRCm39) D676G probably damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acsl6 T C 11: 54,251,902 (GRCm39) I683T probably damaging Het
Adgrg5 A T 8: 95,664,428 (GRCm39) Y345F probably damaging Het
Alg6 T G 4: 99,634,599 (GRCm39) F114V probably benign Het
Ank2 A C 3: 126,791,500 (GRCm39) probably null Het
Ankrd24 A T 10: 81,478,775 (GRCm39) probably benign Het
Ano8 T C 8: 71,936,131 (GRCm39) K222E probably damaging Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Bmpr1b A T 3: 141,563,163 (GRCm39) probably null Het
C3 A G 17: 57,529,823 (GRCm39) V2A probably damaging Het
Capn1 A G 19: 6,059,133 (GRCm39) V276A possibly damaging Het
Ccdc57 T C 11: 120,812,499 (GRCm39) E85G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chl1 A T 6: 103,676,120 (GRCm39) probably null Het
Chodl C T 16: 78,738,146 (GRCm39) P38L probably benign Het
Clec4a2 G T 6: 123,116,084 (GRCm39) E124* probably null Het
Cmtr1 T C 17: 29,921,229 (GRCm39) V825A probably benign Het
Cnksr3 T C 10: 7,070,539 (GRCm39) I232V probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col15a1 G T 4: 47,299,278 (GRCm39) probably null Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cul1 A G 6: 47,497,764 (GRCm39) N615S probably damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cyp2c67 C T 19: 39,605,811 (GRCm39) G362S probably benign Het
D930048N14Rik T A 11: 51,544,692 (GRCm39) probably benign Het
Ddx49 T C 8: 70,753,633 (GRCm39) T79A probably damaging Het
Defb46 T A 8: 19,289,991 (GRCm39) probably null Het
Dnah17 T A 11: 118,012,742 (GRCm39) I145F probably damaging Het
Dock8 A T 19: 25,104,492 (GRCm39) I725F probably benign Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Enam T A 5: 88,652,324 (GRCm39) S1278T possibly damaging Het
Fndc3a A G 14: 72,794,283 (GRCm39) V829A probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gm10787 A T 10: 76,857,711 (GRCm39) noncoding transcript Het
Gsap T A 5: 21,495,543 (GRCm39) probably null Het
Gtf2ird1 T C 5: 134,411,434 (GRCm39) probably null Het
Has3 A T 8: 107,600,711 (GRCm39) I58F probably damaging Het
Haus5 A T 7: 30,357,926 (GRCm39) probably null Het
Hip1r T C 5: 124,129,568 (GRCm39) V169A probably benign Het
Hnf1a T A 5: 115,108,770 (GRCm39) D45V probably damaging Het
Il20ra T A 10: 19,618,767 (GRCm39) Y72N probably damaging Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Itpr1 T C 6: 108,363,667 (GRCm39) L763P probably damaging Het
Katnal2 C A 18: 77,103,719 (GRCm39) R104L probably benign Het
Kcng4 G T 8: 120,352,947 (GRCm39) P321Q probably benign Het
Larp4b T C 13: 9,187,339 (GRCm39) probably null Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lhcgr T A 17: 89,072,604 (GRCm39) I148F probably damaging Het
Lsm10 T A 4: 125,991,756 (GRCm39) S37R possibly damaging Het
Mfsd13a A G 19: 46,360,619 (GRCm39) probably null Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Mme G A 3: 63,235,467 (GRCm39) D172N probably benign Het
Mme A G 3: 63,235,404 (GRCm39) S97G probably benign Het
Mtrex A T 13: 113,009,461 (GRCm39) H979Q probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myt1l T C 12: 29,901,660 (GRCm39) M208T probably benign Het
Neb T C 2: 52,118,554 (GRCm39) I3987V probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Neto1 T C 18: 86,414,009 (GRCm39) M1T probably null Het
Nom1 T C 5: 29,651,876 (GRCm39) F738S possibly damaging Het
Or10v1 C A 19: 11,874,249 (GRCm39) P288H probably damaging Het
Or4f61 C A 2: 111,922,192 (GRCm39) V285L probably benign Het
Or51h5 C T 7: 102,577,648 (GRCm39) S271L probably damaging Het
Or5b123 C T 19: 13,596,967 (GRCm39) S147F probably damaging Het
Or5w14 T C 2: 87,541,317 (GRCm39) probably null Het
Or6c203 T C 10: 129,010,197 (GRCm39) K231R probably benign Het
Or6f2 T A 7: 139,756,474 (GRCm39) L147* probably null Het
Or9m1b T G 2: 87,836,865 (GRCm39) I86L probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Palb2 G T 7: 121,713,537 (GRCm39) D915E possibly damaging Het
Pank4 T C 4: 155,060,816 (GRCm39) L491P probably damaging Het
Paqr7 T C 4: 134,234,980 (GRCm39) V279A probably benign Het
Pcif1 G A 2: 164,730,386 (GRCm39) R373Q probably damaging Het
Pdgfa T A 5: 138,964,927 (GRCm39) N185I probably benign Het
Plcd4 T C 1: 74,588,520 (GRCm39) V123A possibly damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rac3 T G 11: 120,614,320 (GRCm39) L148R possibly damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Rbl1 A G 2: 157,016,823 (GRCm39) I592T probably benign Het
Rbl2 A C 8: 91,822,191 (GRCm39) D408A possibly damaging Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Rorb A T 19: 18,939,447 (GRCm39) L234H probably damaging Het
Rpp40 T G 13: 36,080,897 (GRCm39) D279A probably benign Het
Siglec1 C A 2: 130,923,420 (GRCm39) V442L probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Sptbn5 T C 2: 119,902,125 (GRCm39) I126M possibly damaging Het
Strada A G 11: 106,062,047 (GRCm39) V94A possibly damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Tgm1 T C 14: 55,942,398 (GRCm39) Y651C probably damaging Het
Tmem200c T A 17: 69,147,612 (GRCm39) V65E probably damaging Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Trgc3 A T 13: 19,445,261 (GRCm39) M70L probably damaging Het
Vcan T G 13: 89,853,511 (GRCm39) E483A probably damaging Het
Vmn2r124 A G 17: 18,283,436 (GRCm39) T377A probably benign Het
Vmn2r3 A C 3: 64,166,815 (GRCm39) I772S probably damaging Het
Wdfy3 A G 5: 102,063,242 (GRCm39) V1342A probably benign Het
Zfp507 T C 7: 35,487,176 (GRCm39) H764R probably damaging Het
Znrf3 A G 11: 5,237,455 (GRCm39) I218T possibly damaging Het
Other mutations in Bltp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Bltp2 APN 11 78,160,400 (GRCm39) missense possibly damaging 0.55
IGL00497:Bltp2 APN 11 78,163,759 (GRCm39) missense probably damaging 1.00
IGL00797:Bltp2 APN 11 78,163,976 (GRCm39) missense probably benign 0.07
IGL01695:Bltp2 APN 11 78,156,019 (GRCm39) missense probably benign 0.03
IGL02055:Bltp2 APN 11 78,177,457 (GRCm39) missense probably damaging 1.00
IGL02066:Bltp2 APN 11 78,164,058 (GRCm39) missense probably damaging 1.00
IGL02231:Bltp2 APN 11 78,170,722 (GRCm39) missense probably benign
IGL02282:Bltp2 APN 11 78,175,054 (GRCm39) missense probably benign 0.22
IGL02293:Bltp2 APN 11 78,162,736 (GRCm39) missense probably damaging 1.00
IGL02336:Bltp2 APN 11 78,179,858 (GRCm39) missense probably damaging 1.00
IGL02528:Bltp2 APN 11 78,162,802 (GRCm39) missense possibly damaging 0.93
IGL03231:Bltp2 APN 11 78,159,528 (GRCm39) missense probably benign 0.02
R0003:Bltp2 UTSW 11 78,177,404 (GRCm39) missense possibly damaging 0.66
R0197:Bltp2 UTSW 11 78,160,530 (GRCm39) unclassified probably benign
R0244:Bltp2 UTSW 11 78,177,317 (GRCm39) splice site probably null
R0281:Bltp2 UTSW 11 78,162,750 (GRCm39) missense possibly damaging 0.88
R0396:Bltp2 UTSW 11 78,159,203 (GRCm39) missense possibly damaging 0.93
R0624:Bltp2 UTSW 11 78,159,283 (GRCm39) missense probably damaging 1.00
R0666:Bltp2 UTSW 11 78,168,038 (GRCm39) nonsense probably null
R0666:Bltp2 UTSW 11 78,178,813 (GRCm39) missense probably damaging 1.00
R1313:Bltp2 UTSW 11 78,156,498 (GRCm39) missense probably benign 0.02
R1313:Bltp2 UTSW 11 78,156,498 (GRCm39) missense probably benign 0.02
R1443:Bltp2 UTSW 11 78,153,624 (GRCm39) missense probably damaging 1.00
R1485:Bltp2 UTSW 11 78,176,406 (GRCm39) missense probably damaging 1.00
R1500:Bltp2 UTSW 11 78,174,958 (GRCm39) missense possibly damaging 0.46
R1537:Bltp2 UTSW 11 78,180,169 (GRCm39) missense probably damaging 1.00
R1543:Bltp2 UTSW 11 78,166,000 (GRCm39) missense probably benign 0.44
R1702:Bltp2 UTSW 11 78,179,854 (GRCm39) missense probably damaging 1.00
R1804:Bltp2 UTSW 11 78,164,295 (GRCm39) missense probably damaging 1.00
R1835:Bltp2 UTSW 11 78,178,576 (GRCm39) missense probably damaging 0.97
R1861:Bltp2 UTSW 11 78,178,755 (GRCm39) unclassified probably benign
R1986:Bltp2 UTSW 11 78,165,438 (GRCm39) missense probably damaging 1.00
R1987:Bltp2 UTSW 11 78,158,993 (GRCm39) missense probably damaging 1.00
R2061:Bltp2 UTSW 11 78,159,575 (GRCm39) nonsense probably null
R2113:Bltp2 UTSW 11 78,159,598 (GRCm39) missense probably benign 0.02
R3692:Bltp2 UTSW 11 78,160,335 (GRCm39) missense probably damaging 1.00
R3788:Bltp2 UTSW 11 78,179,123 (GRCm39) critical splice donor site probably null
R3835:Bltp2 UTSW 11 78,169,911 (GRCm39) missense probably benign 0.17
R3882:Bltp2 UTSW 11 78,153,526 (GRCm39) missense probably damaging 1.00
R3943:Bltp2 UTSW 11 78,160,350 (GRCm39) nonsense probably null
R3944:Bltp2 UTSW 11 78,160,350 (GRCm39) nonsense probably null
R3945:Bltp2 UTSW 11 78,180,790 (GRCm39) missense probably damaging 1.00
R4196:Bltp2 UTSW 11 78,154,382 (GRCm39) intron probably benign
R4510:Bltp2 UTSW 11 78,168,154 (GRCm39) missense possibly damaging 0.59
R4511:Bltp2 UTSW 11 78,168,154 (GRCm39) missense possibly damaging 0.59
R4756:Bltp2 UTSW 11 78,154,854 (GRCm39) missense probably damaging 0.98
R5337:Bltp2 UTSW 11 78,156,034 (GRCm39) missense possibly damaging 0.46
R5419:Bltp2 UTSW 11 78,162,916 (GRCm39) nonsense probably null
R5572:Bltp2 UTSW 11 78,155,393 (GRCm39) missense probably damaging 0.98
R5719:Bltp2 UTSW 11 78,164,071 (GRCm39) missense probably damaging 0.97
R5754:Bltp2 UTSW 11 78,160,367 (GRCm39) missense probably damaging 1.00
R5890:Bltp2 UTSW 11 78,164,096 (GRCm39) nonsense probably null
R5919:Bltp2 UTSW 11 78,180,176 (GRCm39) missense probably damaging 1.00
R5925:Bltp2 UTSW 11 78,175,064 (GRCm39) missense probably benign 0.06
R5976:Bltp2 UTSW 11 78,174,955 (GRCm39) missense probably benign 0.00
R5999:Bltp2 UTSW 11 78,176,294 (GRCm39) missense probably damaging 1.00
R6056:Bltp2 UTSW 11 78,162,210 (GRCm39) missense possibly damaging 0.77
R6180:Bltp2 UTSW 11 78,164,084 (GRCm39) missense possibly damaging 0.51
R6484:Bltp2 UTSW 11 78,169,921 (GRCm39) missense probably damaging 1.00
R6721:Bltp2 UTSW 11 78,170,625 (GRCm39) missense probably damaging 1.00
R6800:Bltp2 UTSW 11 78,179,105 (GRCm39) missense probably benign 0.13
R6911:Bltp2 UTSW 11 78,159,179 (GRCm39) missense probably damaging 0.99
R6923:Bltp2 UTSW 11 78,165,452 (GRCm39) missense possibly damaging 0.67
R7283:Bltp2 UTSW 11 78,165,654 (GRCm39) missense probably damaging 1.00
R7287:Bltp2 UTSW 11 78,163,709 (GRCm39) missense possibly damaging 0.61
R7339:Bltp2 UTSW 11 78,163,210 (GRCm39) critical splice donor site probably null
R7409:Bltp2 UTSW 11 78,159,583 (GRCm39) missense probably damaging 1.00
R7473:Bltp2 UTSW 11 78,157,941 (GRCm39) missense possibly damaging 0.86
R7704:Bltp2 UTSW 11 78,159,570 (GRCm39) missense probably benign 0.29
R7793:Bltp2 UTSW 11 78,164,031 (GRCm39) missense possibly damaging 0.56
R8051:Bltp2 UTSW 11 78,164,238 (GRCm39) intron probably benign
R8186:Bltp2 UTSW 11 78,177,457 (GRCm39) missense probably damaging 1.00
R8256:Bltp2 UTSW 11 78,167,979 (GRCm39) missense probably benign 0.00
R8518:Bltp2 UTSW 11 78,156,064 (GRCm39) missense possibly damaging 0.95
R8677:Bltp2 UTSW 11 78,174,982 (GRCm39) missense probably damaging 1.00
R8736:Bltp2 UTSW 11 78,178,875 (GRCm39) missense probably benign 0.26
R8829:Bltp2 UTSW 11 78,158,064 (GRCm39) missense probably benign 0.02
R8832:Bltp2 UTSW 11 78,158,064 (GRCm39) missense probably benign 0.02
R9006:Bltp2 UTSW 11 78,164,345 (GRCm39) missense possibly damaging 0.90
R9014:Bltp2 UTSW 11 78,160,488 (GRCm39) missense possibly damaging 0.78
R9184:Bltp2 UTSW 11 78,162,214 (GRCm39) missense probably damaging 1.00
R9473:Bltp2 UTSW 11 78,174,983 (GRCm39) missense probably damaging 1.00
X0028:Bltp2 UTSW 11 78,177,461 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACGGTGCCTTAATTGACTACC -3'
(R):5'- AAGAGTATTGGACTGGGTGC -3'

Sequencing Primer
(F):5'- GGTGCCTTAATTGACTACCTCCTTAC -3'
(R):5'- CCAGGGGCTGGTTATAACTTCC -3'
Posted On 2014-06-23