Incidental Mutation 'R1835:Bltp2'
ID 205197
Institutional Source Beutler Lab
Gene Symbol Bltp2
Ensembl Gene ENSMUSG00000010277
Gene Name bridge-like lipid transfer protein family member 2
Synonyms 2610507B11Rik
MMRRC Submission 039862-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1835 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78152578-78181449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78178576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1993 (V1993F)
Ref Sequence ENSEMBL: ENSMUSP00000010421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010421] [ENSMUST00000046361]
AlphaFold Q5SYL3
Predicted Effect probably damaging
Transcript: ENSMUST00000010421
AA Change: V1993F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: V1993F

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: ENSMUST00000147549
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,400,550 (GRCm39) Y530N probably damaging Het
Adam4 T C 12: 81,466,333 (GRCm39) I763V probably benign Het
Aipl1 T G 11: 71,921,325 (GRCm39) K190T possibly damaging Het
Alms1 T A 6: 85,655,485 (GRCm39) S3344T possibly damaging Het
Alpi A G 1: 87,027,136 (GRCm39) V381A possibly damaging Het
Ankfn1 A T 11: 89,338,444 (GRCm39) S365R probably benign Het
Aox1 G A 1: 58,348,150 (GRCm39) A623T probably benign Het
Apc T A 18: 34,450,130 (GRCm39) L2308Q probably damaging Het
Atp9b C T 18: 80,822,098 (GRCm39) V501I probably benign Het
Baz2b T C 2: 59,732,163 (GRCm39) E1994G probably benign Het
Cacna1a T C 8: 85,307,986 (GRCm39) probably null Het
Cacna1h C A 17: 25,611,050 (GRCm39) V583L probably benign Het
Cd55 T C 1: 130,375,346 (GRCm39) probably benign Het
Cep192 T A 18: 67,937,494 (GRCm39) S75T possibly damaging Het
Cfap54 T A 10: 92,798,237 (GRCm39) D1674V probably benign Het
Churc1 T C 12: 76,820,071 (GRCm39) F27L possibly damaging Het
Coro1c A G 5: 113,986,604 (GRCm39) I280T probably benign Het
Creb1 C T 1: 64,590,109 (GRCm39) Q32* probably null Het
Cyp2b9 A G 7: 25,900,208 (GRCm39) T339A probably benign Het
Dctn3 T C 4: 41,720,813 (GRCm39) R51G probably damaging Het
Ddb1 T C 19: 10,603,957 (GRCm39) V888A probably damaging Het
Disp1 A G 1: 182,870,564 (GRCm39) Y619H probably damaging Het
Dnajc9 T C 14: 20,438,402 (GRCm39) D96G possibly damaging Het
Eepd1 A G 9: 25,394,164 (GRCm39) T143A possibly damaging Het
Eps8 T A 6: 137,499,277 (GRCm39) K204* probably null Het
Ercc5 T A 1: 44,220,035 (GRCm39) S1102R probably benign Het
Ergic2 T A 6: 148,091,079 (GRCm39) Y211F possibly damaging Het
Fam135b G T 15: 71,362,560 (GRCm39) L274M probably damaging Het
Fat3 G A 9: 15,909,384 (GRCm39) T2206I probably damaging Het
Fat4 A G 3: 39,037,720 (GRCm39) I3791V probably benign Het
Gemin4 A G 11: 76,104,122 (GRCm39) M213T possibly damaging Het
Gnai3 T C 3: 108,025,723 (GRCm39) M119V probably benign Het
Heatr5b A T 17: 79,080,992 (GRCm39) L1420Q probably damaging Het
Herc2 G T 7: 55,856,513 (GRCm39) G3918* probably null Het
Ints9 A G 14: 65,269,705 (GRCm39) Y465C probably damaging Het
Ist1 A G 8: 110,405,515 (GRCm39) V175A probably damaging Het
Kcnj12 T C 11: 60,960,383 (GRCm39) L227P possibly damaging Het
Kcnq5 T C 1: 21,536,611 (GRCm39) S416G probably benign Het
Kdm3a T A 6: 71,590,940 (GRCm39) T295S probably benign Het
Kif1c T A 11: 70,599,797 (GRCm39) M479K probably damaging Het
Kif20b T C 19: 34,933,438 (GRCm39) L83P probably damaging Het
Kndc1 A G 7: 139,507,624 (GRCm39) E1194G probably damaging Het
Llgl1 A G 11: 60,595,556 (GRCm39) M81V probably benign Het
Map4k5 C A 12: 69,871,436 (GRCm39) M495I probably damaging Het
Mest C T 6: 30,742,790 (GRCm39) R146C probably benign Het
Mettl24 T A 10: 40,613,812 (GRCm39) probably null Het
Mical1 T C 10: 41,359,531 (GRCm39) S586P probably benign Het
Mrgpra3 G T 7: 47,239,694 (GRCm39) Y77* probably null Het
Mss51 A T 14: 20,533,246 (GRCm39) C408* probably null Het
Myh6 T C 14: 55,194,858 (GRCm39) T666A probably benign Het
Myo10 T C 15: 25,805,673 (GRCm39) C1685R possibly damaging Het
Naip5 A T 13: 100,359,726 (GRCm39) Y503* probably null Het
Neil1 A C 9: 57,053,888 (GRCm39) F144C probably damaging Het
Nipbl T A 15: 8,373,001 (GRCm39) I1082F possibly damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Nt5el C A 13: 105,218,702 (GRCm39) A12E unknown Het
Ntng2 G A 2: 29,087,069 (GRCm39) Q384* probably null Het
Ocrl T A X: 47,050,993 (GRCm39) I74N probably damaging Het
Or10j27 A G 1: 172,958,382 (GRCm39) V134A probably benign Het
Or13a22 A G 7: 140,072,622 (GRCm39) S24G probably benign Het
Or14j8 C T 17: 38,263,276 (GRCm39) G213E possibly damaging Het
Or1e22 A C 11: 73,377,200 (GRCm39) V150G probably benign Het
Or2j3 A T 17: 38,616,203 (GRCm39) S50T probably benign Het
Or2y1 A T 11: 49,385,497 (GRCm39) I46F probably damaging Het
Patj A G 4: 98,379,827 (GRCm39) D151G probably benign Het
Plpbp T C 8: 27,539,259 (GRCm39) V126A probably damaging Het
Pold2 A G 11: 5,823,454 (GRCm39) L325P possibly damaging Het
Ppp1r12c A C 7: 4,486,650 (GRCm39) S480A probably damaging Het
Pum1 T C 4: 130,428,359 (GRCm39) S124P possibly damaging Het
Pwp2 C G 10: 78,014,925 (GRCm39) G353A probably damaging Het
Reln C A 5: 22,184,000 (GRCm39) Q1666H probably damaging Het
Rnf19a T C 15: 36,266,071 (GRCm39) I9V probably benign Het
Ryr2 T C 13: 11,784,764 (GRCm39) H1063R probably benign Het
Samd14 C G 11: 94,914,426 (GRCm39) D361E probably damaging Het
Samd15 A T 12: 87,248,617 (GRCm39) N365I probably damaging Het
Sec16b A G 1: 157,358,882 (GRCm39) H105R probably benign Het
Sez6 T C 11: 77,844,329 (GRCm39) S51P probably benign Het
Sh3bp1 T A 15: 78,789,350 (GRCm39) L236Q probably damaging Het
Sspo C T 6: 48,434,274 (GRCm39) T991I probably damaging Het
Suco A T 1: 161,687,069 (GRCm39) L97* probably null Het
Tab1 C A 15: 80,032,497 (GRCm39) R35S probably benign Het
Tet3 C A 6: 83,381,145 (GRCm39) S341I possibly damaging Het
Tlr1 A T 5: 65,083,043 (GRCm39) D511E probably benign Het
Tmem132b A C 5: 125,862,963 (GRCm39) D656A probably damaging Het
Tmtc4 T A 14: 123,179,400 (GRCm39) probably null Het
Trmo T C 4: 46,380,158 (GRCm39) T404A probably damaging Het
Trpm1 A G 7: 63,880,016 (GRCm39) K790E probably damaging Het
Ulk4 C A 9: 120,997,250 (GRCm39) R774M probably null Het
Ush2a C T 1: 188,184,015 (GRCm39) L1440F probably benign Het
Usp16 A G 16: 87,277,795 (GRCm39) K682E probably damaging Het
Virma T C 4: 11,540,511 (GRCm39) S1471P probably benign Het
Vmn1r177 A T 7: 23,565,111 (GRCm39) I255N probably damaging Het
Vmn2r61 A T 7: 41,916,076 (GRCm39) R230* probably null Het
Vps13c T A 9: 67,900,295 (GRCm39) F3671L probably benign Het
Washc5 T C 15: 59,231,189 (GRCm39) N358S possibly damaging Het
Wdr72 A G 9: 74,058,899 (GRCm39) K331E probably damaging Het
Zfp986 A T 4: 145,625,805 (GRCm39) K155I 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
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
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'- GCTTGCCTAGCTTAGCAAAGAC -3'
(R):5'- TGAGAGGCACCACATTTACC -3'

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