Incidental Mutation 'R3944:Bltp2'
ID 307610
Institutional Source Beutler Lab
Gene Symbol Bltp2
Ensembl Gene ENSMUSG00000010277
Gene Name bridge-like lipid transfer protein family member 2
Synonyms 2610507B11Rik
MMRRC Submission 040925-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3944 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78152578-78181449 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 78160350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 603 (L603*)
Ref Sequence ENSEMBL: ENSMUSP00000010421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010421]
AlphaFold Q5SYL3
Predicted Effect probably null
Transcript: ENSMUST00000010421
AA Change: L603*
SMART Domains Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: L603*

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: ENSMUST00000132756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136184
Predicted Effect probably benign
Transcript: ENSMUST00000145145
SMART Domains Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277

DomainStartEndE-ValueType
Pfam:Fmp27_GFWDK 1 52 1.2e-20 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
6430548M08Rik T C 8: 120,879,241 (GRCm39) L213P probably damaging Het
Akap12 A G 10: 4,307,347 (GRCm39) K1491E probably benign Het
Akr1c12 T A 13: 4,329,339 (GRCm39) H6L probably benign Het
Ankrd50 C T 3: 38,506,645 (GRCm39) C251Y probably benign Het
Bltp1 A G 3: 37,084,210 (GRCm39) I3876V possibly damaging Het
Calu T C 6: 29,361,710 (GRCm39) S125P possibly damaging Het
Cdh10 A G 15: 18,964,335 (GRCm39) T166A probably benign Het
Clip1 T C 5: 123,755,892 (GRCm39) probably benign Het
Cntn4 T G 6: 106,595,375 (GRCm39) N497K probably benign Het
Cspg4 T A 9: 56,793,407 (GRCm39) C381S probably damaging Het
Cyp1a2 T C 9: 57,589,151 (GRCm39) N221S probably benign Het
Dnaaf5 C T 5: 139,138,679 (GRCm39) probably benign Het
Dnah7b A G 1: 46,176,645 (GRCm39) D755G probably damaging Het
Dscam A T 16: 96,622,197 (GRCm39) V418E probably damaging Het
Eefsec T A 6: 88,275,076 (GRCm39) H296L probably benign Het
Elmo3 T C 8: 106,035,852 (GRCm39) probably null Het
Gcm1 C T 9: 77,967,098 (GRCm39) Q106* probably null Het
Gnl1 G T 17: 36,299,413 (GRCm39) G528V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
H2-T23 A G 17: 36,341,535 (GRCm39) V312A probably benign Het
Hectd4 C A 5: 121,441,588 (GRCm39) probably benign Het
Hoxa7 T A 6: 52,193,606 (GRCm39) probably benign Het
Ifnlr1 T A 4: 135,428,539 (GRCm39) V122E probably damaging Het
Kcnt2 T C 1: 140,512,025 (GRCm39) M1036T probably damaging Het
Khdc1b G T 1: 21,455,030 (GRCm39) K96N probably damaging Het
Kif19a A T 11: 114,677,561 (GRCm39) Y578F probably benign Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Lyl1 A C 8: 85,430,631 (GRCm39) T178P probably damaging Het
Marchf6 A G 15: 31,488,960 (GRCm39) V317A probably benign Het
Mmp1b G A 9: 7,384,708 (GRCm39) T280I possibly damaging Het
Mpi T C 9: 57,452,536 (GRCm39) D332G probably damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Ntng2 G A 2: 29,094,289 (GRCm39) L361F probably benign Het
Obscn A T 11: 59,023,373 (GRCm39) I668N probably damaging Het
Or52x1 A T 7: 104,853,162 (GRCm39) C129* probably null Het
Or8k40 A G 2: 86,584,525 (GRCm39) S186P probably benign Het
Pabpc1l A G 2: 163,884,247 (GRCm39) E328G probably damaging Het
Pan3 A T 5: 147,387,540 (GRCm39) N170Y probably damaging Het
Prdm2 C T 4: 142,858,385 (GRCm39) R1635Q possibly damaging Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Rp9 A C 9: 22,361,154 (GRCm39) H44Q probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Slc6a12 A T 6: 121,331,239 (GRCm39) probably null Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Spout1 A G 2: 30,064,148 (GRCm39) V372A probably benign Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tbl3 A G 17: 24,919,682 (GRCm39) S791P possibly damaging Het
Tcof1 C A 18: 60,955,909 (GRCm39) D927Y probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Topaz1 T C 9: 122,579,669 (GRCm39) S860P possibly damaging Het
Vill T C 9: 118,897,499 (GRCm39) I258T probably benign Het
Vmn1r204 G A 13: 22,741,014 (GRCm39) R215H probably benign Het
Vmn2r106 A T 17: 20,487,913 (GRCm39) F829I probably damaging Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r58 A T 7: 41,513,885 (GRCm39) F253I probably benign Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Zfp932 T A 5: 110,157,820 (GRCm39) V506E probably benign 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
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'- CTTTGCCAGGTCTAGTTAGGTAAG -3'
(R):5'- GTGATCCAATCTGGCCCATAG -3'

Sequencing Primer
(F):5'- TGCCAGGTCTAGTTAGGTAAGAGAAG -3'
(R):5'- CTAAAGCATTACCTCTAGAGAGCGG -3'
Posted On 2015-04-17