Incidental Mutation 'R8829:Bltp2'
ID 673705
Institutional Source Beutler Lab
Gene Symbol Bltp2
Ensembl Gene ENSMUSG00000010277
Gene Name bridge-like lipid transfer protein family member 2
Synonyms 2610507B11Rik
MMRRC Submission 068731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R8829 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 78152578-78181449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78158064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 409 (K409E)
Ref Sequence ENSEMBL: ENSMUSP00000010421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010421]
AlphaFold Q5SYL3
Predicted Effect probably benign
Transcript: ENSMUST00000010421
AA Change: K409E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: K409E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A T 3: 59,939,240 (GRCm39) I5F probably benign Het
Abca13 A T 11: 9,571,881 (GRCm39) D4814V probably damaging Het
Adgrl1 A G 8: 84,665,458 (GRCm39) N1382D Het
Adh6b T C 3: 138,055,463 (GRCm39) V71A probably benign Het
Aox4 A T 1: 58,294,649 (GRCm39) M953L probably benign Het
B3galt9 T A 2: 34,728,634 (GRCm39) N144K probably benign Het
Bach2 A T 4: 32,562,028 (GRCm39) E165V probably damaging Het
Catsperg2 A G 7: 29,397,269 (GRCm39) V1078A probably benign Het
Ccno A G 13: 113,126,239 (GRCm39) N236S probably benign Het
Ccpg1 A T 9: 72,917,633 (GRCm39) D255V probably benign Het
Cdhr2 A T 13: 54,865,930 (GRCm39) Y278F probably damaging Het
Cdk17 C T 10: 93,042,920 (GRCm39) probably benign Het
Celsr3 A G 9: 108,717,582 (GRCm39) D2216G probably benign Het
Cenpu T C 8: 47,026,496 (GRCm39) L294P probably damaging Het
Chct1 A G 11: 85,062,037 (GRCm39) D12G probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Ctnna2 G A 6: 77,582,205 (GRCm39) R352* probably null Het
D630003M21Rik C A 2: 158,058,856 (GRCm39) C348F probably damaging Het
Dcdc2a C T 13: 25,294,051 (GRCm39) Q236* probably null Het
Ddx60 T G 8: 62,393,695 (GRCm39) S44A probably damaging Het
Dennd2c T A 3: 103,059,720 (GRCm39) probably null Het
Drd5 G A 5: 38,477,078 (GRCm39) V24M probably benign Het
Dthd1 T C 5: 62,971,608 (GRCm39) S144P probably benign Het
Fcna C A 2: 25,516,145 (GRCm39) R124L possibly damaging Het
Frem1 T C 4: 82,918,431 (GRCm39) R504G probably damaging Het
Gldc C G 19: 30,078,212 (GRCm39) M928I probably benign Het
Gprc6a A C 10: 51,491,295 (GRCm39) I818R probably damaging Het
Hcfc2 T C 10: 82,574,179 (GRCm39) Y118H probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Htr1d A T 4: 136,170,554 (GRCm39) H261L probably benign Het
Hycc2 A T 1: 58,587,832 (GRCm39) I127N possibly damaging Het
Igf1r T A 7: 67,875,769 (GRCm39) F1244I probably damaging Het
Ighv1-63 A G 12: 115,459,534 (GRCm39) V21A probably benign Het
Kit A G 5: 75,799,791 (GRCm39) N508D probably benign Het
Klk1b22 A T 7: 43,764,277 (GRCm39) E68D probably benign Het
Knstrn C T 2: 118,654,222 (GRCm39) Q211* probably null Het
Krtap2-4 A T 11: 99,505,246 (GRCm39) C122S unknown Het
Map3k1 T G 13: 111,889,015 (GRCm39) H1314P possibly damaging Het
Mgat4c A T 10: 102,214,084 (GRCm39) K22N probably damaging Het
Mpo T A 11: 87,694,250 (GRCm39) F660Y probably damaging Het
Myb A T 10: 21,021,130 (GRCm39) L433H probably damaging Het
Myo1c G A 11: 75,561,072 (GRCm39) V793I probably benign Het
Nckap1l T A 15: 103,387,242 (GRCm39) S706T probably benign Het
Ncoa3 A G 2: 165,892,068 (GRCm39) Y148C probably damaging Het
Nktr T A 9: 121,583,330 (GRCm39) S1432T unknown Het
Odf2l C T 3: 144,833,820 (GRCm39) S160L probably benign Het
Or10j7 C T 1: 173,011,458 (GRCm39) R181H probably benign Het
Or56b34 T C 7: 104,937,435 (GRCm39) L45P possibly damaging Het
Or6x1 T A 9: 40,099,209 (GRCm39) F266Y probably benign Het
Or8d23 G T 9: 38,842,190 (GRCm39) C241F probably damaging Het
Pclo T C 5: 14,838,464 (GRCm39) W1424R Het
Pcx A G 19: 4,651,968 (GRCm39) D72G probably damaging Het
Pebp4 A G 14: 70,285,916 (GRCm39) D193G probably benign Het
Pi4kb C T 3: 94,900,344 (GRCm39) T326M probably damaging Het
Piezo1 A C 8: 123,217,753 (GRCm39) M1265R Het
Pip4k2c A T 10: 127,037,037 (GRCm39) H177Q probably damaging Het
Pramel48 G T 5: 95,630,939 (GRCm39) C272F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptger3 A G 3: 157,273,423 (GRCm39) T257A probably damaging Het
Relt T A 7: 100,499,479 (GRCm39) S147C probably damaging Het
Scap A G 9: 110,209,271 (GRCm39) Y648C probably damaging Het
Scn9a T A 2: 66,313,961 (GRCm39) D1919V probably benign Het
Septin8 G A 11: 53,422,865 (GRCm39) V25I probably damaging Het
Serpinb2 A G 1: 107,443,257 (GRCm39) I19V probably benign Het
Slc16a6 A G 11: 109,345,932 (GRCm39) Y444H probably benign Het
Syne1 T C 10: 5,058,685 (GRCm39) E7276G probably benign Het
Syt1 C A 10: 108,478,193 (GRCm39) C77F probably benign Het
Tcf20 T A 15: 82,739,915 (GRCm39) K512M probably damaging Het
Tomm7 T C 5: 24,049,047 (GRCm39) K9E possibly damaging Het
Trank1 T C 9: 111,176,591 (GRCm39) S288P probably benign Het
Trem3 T C 17: 48,556,865 (GRCm39) V112A probably benign Het
Ttbk1 C A 17: 46,757,821 (GRCm39) G938W probably damaging Het
Vmn1r178 G A 7: 23,593,264 (GRCm39) C104Y probably damaging Het
Zpr1 T A 9: 46,192,344 (GRCm39) Y418* probably null 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
R1852:Bltp2 UTSW 11 78,159,299 (GRCm39) missense probably damaging 1.00
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
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'- GGCCAGTTCTGGGAATAAAACCC -3'
(R):5'- TGTGCTAGGTACCGAGGATG -3'

Sequencing Primer
(F):5'- CATACTTGGGGTCTTCTCATTCCCAG -3'
(R):5'- TGTGCTAGGTACCGAGGATGAAAAC -3'
Posted On 2021-07-15