Incidental Mutation 'R3788:Bltp2'
ID 272395
Institutional Source Beutler Lab
Gene Symbol Bltp2
Ensembl Gene ENSMUSG00000010277
Gene Name bridge-like lipid transfer protein family member 2
Synonyms 2610507B11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3788 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78152578-78181449 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 78179123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010421] [ENSMUST00000046361]
AlphaFold Q5SYL3
Predicted Effect probably null
Transcript: ENSMUST00000010421
SMART Domains Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277

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 probably benign
Transcript: ENSMUST00000046361
SMART Domains Protein: ENSMUSP00000038139
Gene: ENSMUSG00000037593

DomainStartEndE-ValueType
low complexity region 57 73 N/A INTRINSIC
Pfam:Pkinase 99 268 1.7e-39 PFAM
Pfam:Pkinase_Tyr 100 262 7.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147549
Meta Mutation Damage Score 0.9589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,846,561 (GRCm39) V26E possibly damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Akap13 G A 7: 75,351,901 (GRCm39) probably null Het
Aph1b T C 9: 66,701,348 (GRCm39) probably benign Het
Aspm C T 1: 139,390,941 (GRCm39) T742I probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Cemip A T 7: 83,593,106 (GRCm39) L1199H probably damaging Het
Chd2 G A 7: 73,096,878 (GRCm39) probably benign Het
Clnk A G 5: 38,872,341 (GRCm39) Y310H probably damaging Het
Crmp1 A G 5: 37,441,484 (GRCm39) D522G probably damaging Het
Cyth3 A G 5: 143,622,298 (GRCm39) probably benign Het
Dcbld1 T A 10: 52,195,754 (GRCm39) Y392N probably damaging Het
Flnc T C 6: 29,454,056 (GRCm39) F1820L probably damaging Het
Galnt18 G A 7: 111,119,322 (GRCm39) R385* probably null Het
Gpatch3 C A 4: 133,302,479 (GRCm39) R137S possibly damaging Het
Gpc6 C T 14: 117,861,878 (GRCm39) P265S probably damaging Het
Harbi1 T A 2: 91,550,952 (GRCm39) D308E probably benign Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hk1 T C 10: 62,111,467 (GRCm39) K737E possibly damaging Het
Hnrnpr G A 4: 136,063,624 (GRCm39) V345M probably damaging Het
Ift56 T A 6: 38,380,459 (GRCm39) probably null Het
Kalrn T C 16: 34,040,610 (GRCm39) H944R probably damaging Het
Kdm2a A T 19: 4,401,833 (GRCm39) C207S probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt75 C T 15: 101,481,956 (GRCm39) G104D possibly damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Marchf10 T A 11: 105,287,905 (GRCm39) L132F probably damaging Het
Mfrp G A 9: 44,016,754 (GRCm39) W65* probably null Het
Mgat5 A G 1: 127,294,180 (GRCm39) D174G probably benign Het
Miga2 T A 2: 30,261,237 (GRCm39) Y177* probably null Het
Mroh3 T C 1: 136,113,213 (GRCm39) D747G probably damaging Het
Muc5b A G 7: 141,417,571 (GRCm39) T3506A possibly damaging Het
Myo7b G T 18: 32,107,165 (GRCm39) P1277T possibly damaging Het
Naaa C T 5: 92,420,413 (GRCm39) probably null Het
Ndufs2 T C 1: 171,062,889 (GRCm39) D410G possibly damaging Het
Or51a25 A G 7: 102,372,694 (GRCm39) probably null Het
Or5p78 T A 7: 108,212,280 (GRCm39) Y255* probably null Het
Or7e177 A G 9: 20,211,666 (GRCm39) I58V probably benign Het
Or8g35 A G 9: 39,381,365 (GRCm39) I219T probably benign Het
Osbp A T 19: 11,956,285 (GRCm39) Y409F probably benign Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Prkcg G A 7: 3,362,263 (GRCm39) D246N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sbf1 G A 15: 89,183,731 (GRCm39) R1261* probably null Het
Scn4a T C 11: 106,235,100 (GRCm39) N341S probably damaging Het
Sec61a2 C A 2: 5,884,436 (GRCm39) probably null Het
Sgcd T A 11: 47,246,032 (GRCm39) K57* probably null Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Slc12a5 T C 2: 164,835,695 (GRCm39) L861P probably damaging Het
Slc6a16 A G 7: 44,909,386 (GRCm39) D184G probably benign Het
Snx7 A G 3: 117,632,639 (GRCm39) probably benign Het
Sptbn2 A G 19: 4,795,950 (GRCm39) I1710V probably damaging Het
Sytl2 A T 7: 90,025,289 (GRCm39) I426F probably benign Het
Tdp1 A G 12: 99,858,011 (GRCm39) probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn T C 2: 76,775,618 (GRCm39) E1854G unknown Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r98 A T 17: 19,300,887 (GRCm39) T630S probably benign Het
Xrcc1 G C 7: 24,266,333 (GRCm39) A220P 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
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'- ATGGAGTGGCAGCCTAAAGC -3'
(R):5'- GGTAGCAACAGGGTTTCTTTGTATATC -3'

Sequencing Primer
(F):5'- CAGCTTCAGGAAGAGAGTCACTG -3'
(R):5'- CTCTGCTTCCCAAGTGCTGAG -3'
Posted On 2015-03-25