Incidental Mutation 'IGL03123:Lrp11'
ID410037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp11
Ensembl Gene ENSMUSG00000019796
Gene Namelow density lipoprotein receptor-related protein 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03123
Quality Score
Status
Chromosome10
Chromosomal Location7589800-7625483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7602925 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 326 (D326V)
Ref Sequence ENSEMBL: ENSMUSP00000122853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019931] [ENSMUST00000124961] [ENSMUST00000130590] [ENSMUST00000134346] [ENSMUST00000135907]
Predicted Effect probably damaging
Transcript: ENSMUST00000019931
AA Change: D321V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019931
Gene: ENSMUSG00000019796
AA Change: D321V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
MANEC 69 172 1.24e-42 SMART
PKD 198 283 7.62e-2 SMART
LDLa 293 330 9.45e-6 SMART
transmembrane domain 434 456 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124961
SMART Domains Protein: ENSMUSP00000114479
Gene: ENSMUSG00000019796

DomainStartEndE-ValueType
Blast:PKD 1 69 2e-42 BLAST
transmembrane domain 178 200 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130590
AA Change: D321V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121704
Gene: ENSMUSG00000019796
AA Change: D321V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
MANEC 69 172 1.24e-42 SMART
PKD 198 283 7.62e-2 SMART
LDLa 293 330 9.45e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131528
Predicted Effect probably damaging
Transcript: ENSMUST00000134346
AA Change: D326V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122853
Gene: ENSMUSG00000019796
AA Change: D326V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
MANEC 69 172 1.24e-42 SMART
PKD 198 288 1.59e-1 SMART
LDLa 298 335 9.45e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135907
SMART Domains Protein: ENSMUSP00000122359
Gene: ENSMUSG00000019796

DomainStartEndE-ValueType
MANEC 44 147 1.24e-42 SMART
transmembrane domain 196 218 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,761 V96A probably damaging Het
Atp10b T C 11: 43,153,283 V112A probably benign Het
Caprin2 G T 6: 148,895,007 A36E probably damaging Het
Dnase1l2 T C 17: 24,442,252 M28V possibly damaging Het
Eci1 T A 17: 24,436,326 probably null Het
Edil3 T A 13: 89,131,736 S178T probably damaging Het
Epha5 A G 5: 84,331,226 probably null Het
Exoc3l4 A G 12: 111,422,113 E12G probably damaging Het
Frmd7 G A X: 50,895,958 T445I probably benign Het
Gatsl3 A T 11: 4,220,278 T119S probably damaging Het
Golga4 A G 9: 118,536,885 E344G probably damaging Het
H2-M10.4 A G 17: 36,461,920 Y57H probably damaging Het
Hnmt T C 2: 24,019,159 I81V probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Htra3 C T 5: 35,666,133 V280I probably damaging Het
Impg2 G T 16: 56,267,122 E992D probably damaging Het
Kctd4 T C 14: 75,962,978 W130R possibly damaging Het
Kdm3b T A 18: 34,809,491 probably null Het
Kmt2d G A 15: 98,861,771 T1202M unknown Het
Lrrcc1 A T 3: 14,536,084 I59F probably damaging Het
Lyg2 G A 1: 37,915,764 probably benign Het
Med16 A G 10: 79,896,833 V699A probably damaging Het
Myo18b G T 5: 112,874,938 probably benign Het
Nrxn2 A G 19: 6,481,737 T744A probably damaging Het
Olfr397 T A 11: 73,964,986 I126N probably damaging Het
Oser1 A T 2: 163,411,389 probably benign Het
Pcdhgc5 T C 18: 37,819,913 V80A probably benign Het
Pi4ka C T 16: 17,282,675 G1857D possibly damaging Het
Pitpnc1 C T 11: 107,337,411 probably null Het
Pofut2 A G 10: 77,267,010 E137G probably benign Het
Rgsl1 A T 1: 153,825,941 W291R probably damaging Het
Rnf113a2 T C 12: 84,418,276 I314T probably benign Het
Rps2 C T 17: 24,720,289 probably benign Het
Setbp1 T C 18: 78,857,009 K1148E probably damaging Het
Slc45a2 A G 15: 11,012,655 D248G probably benign Het
Slit2 G T 5: 48,211,339 R352L probably damaging Het
Smg1 A G 7: 118,157,181 probably benign Het
Sycp2 A T 2: 178,352,479 C1217* probably null Het
Tbcb A G 7: 30,226,836 probably benign Het
Tinf2 T C 14: 55,680,889 D128G probably damaging Het
Traf3ip2 A G 10: 39,639,222 D332G possibly damaging Het
Tram1 A G 1: 13,589,605 F40L probably benign Het
Trank1 A T 9: 111,367,407 I1500L probably damaging Het
Wdfy4 G A 14: 33,162,870 P25L probably benign Het
Wnt5a G T 14: 28,522,925 Q376H probably damaging Het
Zfp526 A C 7: 25,224,624 T103P probably benign Het
Other mutations in Lrp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0962:Lrp11 UTSW 10 7590296 missense probably benign 0.01
R1248:Lrp11 UTSW 10 7604294 missense probably benign 0.00
R1822:Lrp11 UTSW 10 7596197 missense probably damaging 1.00
R1895:Lrp11 UTSW 10 7623776 missense probably damaging 1.00
R1902:Lrp11 UTSW 10 7623780 missense probably damaging 1.00
R1903:Lrp11 UTSW 10 7623780 missense probably damaging 1.00
R1946:Lrp11 UTSW 10 7623776 missense probably damaging 1.00
R4727:Lrp11 UTSW 10 7590584 missense probably benign 0.01
R4784:Lrp11 UTSW 10 7604201 missense possibly damaging 0.95
R6192:Lrp11 UTSW 10 7598690 critical splice acceptor site probably null
R6916:Lrp11 UTSW 10 7608714 splice site probably null
R7622:Lrp11 UTSW 10 7590172 missense unknown
R7697:Lrp11 UTSW 10 7604219 missense probably benign 0.06
Posted On2016-08-02