Incidental Mutation 'R4784:Lrp11'
ID366852
Institutional Source Beutler Lab
Gene Symbol Lrp11
Ensembl Gene ENSMUSG00000019796
Gene Namelow density lipoprotein receptor-related protein 11
Synonyms
MMRRC Submission 041994-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R4784 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location7589800-7625483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7604201 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 345 (H345R)
Ref Sequence ENSEMBL: ENSMUSP00000122853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019931] [ENSMUST00000124961] [ENSMUST00000130590] [ENSMUST00000134346] [ENSMUST00000135907]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019931
AA Change: H340R

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000019931
Gene: ENSMUSG00000019796
AA Change: H340R

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
AA Change: H84R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114479
Gene: ENSMUSG00000019796
AA Change: H84R

DomainStartEndE-ValueType
Blast:PKD 1 69 2e-42 BLAST
transmembrane domain 178 200 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000130590
AA Change: H340R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121704
Gene: ENSMUSG00000019796
AA Change: H340R

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 possibly damaging
Transcript: ENSMUST00000134346
AA Change: H345R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122853
Gene: ENSMUSG00000019796
AA Change: H345R

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a T A 14: 66,637,824 S83T probably damaging Het
Aff1 T A 5: 103,847,039 Y1034* probably null Het
Ago3 A T 4: 126,368,503 M418K probably benign Het
Alpk1 G T 3: 127,687,592 N175K possibly damaging Het
Als2 A G 1: 59,215,313 V295A probably benign Het
Arhgap32 A G 9: 32,129,653 D67G probably damaging Het
Arhgap32 T C 9: 32,260,780 C1619R probably damaging Het
Asns T G 6: 7,678,029 K350Q probably benign Het
Atp8b5 A T 4: 43,356,980 D576V probably damaging Het
Atrnl1 A G 19: 57,629,158 I122V probably damaging Het
Baz1b T G 5: 135,217,413 L572R possibly damaging Het
C4b T C 17: 34,733,406 T1220A probably benign Het
Carmil3 T C 14: 55,501,321 probably null Het
Ccndbp1 A T 2: 121,008,522 T5S probably benign Het
Chaf1b T C 16: 93,884,542 V16A probably damaging Het
Chd8 C A 14: 52,205,368 C575F probably damaging Het
Chrna10 G A 7: 102,113,219 P255S possibly damaging Het
Clip1 T C 5: 123,579,293 D1387G probably damaging Het
Col12a1 C A 9: 79,678,494 V1228F possibly damaging Het
Cxcr5 T C 9: 44,513,341 T340A probably benign Het
Cyp2e1 G A 7: 140,763,908 V20I possibly damaging Het
Dchs1 A G 7: 105,765,926 Y684H probably damaging Het
Dcun1d3 T C 7: 119,857,664 E275G probably damaging Het
Dgcr8 G A 16: 18,258,310 R4* probably null Het
Dglucy A T 12: 100,838,664 D168V probably damaging Het
Dnah1 T A 14: 31,263,479 K3818N probably damaging Het
Dnajc17 T C 2: 119,179,428 D239G probably benign Het
Dok2 C T 14: 70,777,874 P347L probably benign Het
Elavl2 T C 4: 91,254,142 R265G probably null Het
Elf1 T A 14: 79,580,743 N567K probably benign Het
Epha8 A T 4: 136,933,322 I695N probably damaging Het
Fam103a1 T A 7: 81,768,415 W73R probably damaging Het
Fam178b C A 1: 36,632,415 probably null Het
Fam76a A T 4: 132,902,117 probably null Het
Fam76a A G 4: 132,916,190 Y78H probably damaging Het
Fbn1 A T 2: 125,324,919 C2026S probably damaging Het
Fbxo4 T C 15: 3,969,041 T312A probably benign Het
Fscn2 T C 11: 120,367,987 F453L possibly damaging Het
Gabrb2 T C 11: 42,597,642 C312R probably damaging Het
Gba2 A C 4: 43,568,315 L684R probably damaging Het
Golga2 T A 2: 32,297,156 N89K probably damaging Het
Gpx6 C T 13: 21,312,264 Q3* probably null Het
Grin1 T A 2: 25,292,381 H956L possibly damaging Het
H2-Q7 T G 17: 35,439,938 C122G probably damaging Het
Hcar2 C G 5: 123,864,450 G330A probably benign Het
Hes3 A G 4: 152,287,832 S37P probably damaging Het
Hs3st3b1 T C 11: 63,889,260 H347R probably benign Het
Il1rl1 A G 1: 40,450,188 R367G probably damaging Het
Kcnc1 G T 7: 46,437,287 S570I probably benign Het
Kctd3 T C 1: 188,974,468 I523M probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Kntc1 T G 5: 123,816,762 M2081R possibly damaging Het
Krt83 A G 15: 101,487,956 S253P probably damaging Het
Ktn1 T A 14: 47,693,496 probably null Het
Lair1 T A 7: 4,009,732 M251L probably benign Het
Lama3 A T 18: 12,449,544 H631L probably benign Het
Lamc1 T C 1: 153,231,740 N1231S probably damaging Het
Lin54 A G 5: 100,459,738 I250T probably damaging Het
Lrit1 C T 14: 37,062,236 T507M possibly damaging Het
Lrp6 A C 6: 134,479,539 S921A probably benign Het
Lrrc27 A G 7: 139,242,698 T502A probably benign Het
Marf1 A C 16: 14,152,457 S133A probably benign Het
Mga C T 2: 119,903,057 P129S probably damaging Het
Mgat4e T C 1: 134,541,325 N327S probably damaging Het
Mlh1 A G 9: 111,239,798 Y499H probably benign Het
Mrgpra1 A G 7: 47,335,470 S154P probably damaging Het
Myo1h A G 5: 114,360,599 I919V possibly damaging Het
Naalad2 T C 9: 18,350,918 R442G probably damaging Het
Nat8f4 T C 6: 85,901,499 H14R probably benign Het
Nav1 A G 1: 135,458,739 S1184P probably damaging Het
Nckap1 T A 2: 80,506,934 N986I probably benign Het
Ndufaf2 C G 13: 108,052,780 A145P probably damaging Het
Nop9 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 14: 55,746,402 probably benign Het
Nphp4 G A 4: 152,554,546 R878K probably benign Het
Nutm1 G A 2: 112,248,936 A878V probably benign Het
Olfr1305 A T 2: 111,873,050 D268E possibly damaging Het
Olfr172 G T 16: 58,760,548 F209L probably damaging Het
Olfr675 A C 7: 105,024,530 I150S probably damaging Het
Orc6 T A 8: 85,302,950 I41K probably damaging Het
Pikfyve A G 1: 65,267,846 T1798A probably benign Het
Ppp1r14a A T 7: 29,292,061 E98V possibly damaging Het
Pqlc2 G T 4: 139,300,001 H343Q probably benign Het
Prpf8 T A 11: 75,492,505 D521E probably damaging Het
Pudp A G 18: 50,568,065 V199A probably damaging Het
Rab3c T C 13: 110,061,900 E198G probably benign Het
Rbl2 A G 8: 91,085,568 Y255C probably damaging Het
Rbm12 T C 2: 156,096,564 D596G possibly damaging Het
Sipa1l3 A G 7: 29,377,641 V902A probably damaging Het
Slc37a3 T G 6: 39,337,223 Q485P probably benign Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Sun3 G A 11: 9,038,266 L19F probably benign Het
Tas2r125 A G 6: 132,909,903 I85V probably benign Het
Tenm4 A C 7: 96,774,046 K683Q probably damaging Het
Tmprss11d C T 5: 86,306,281 V222M probably damaging Het
Tnip1 A C 11: 54,915,539 S570A possibly damaging Het
Top1mt G A 15: 75,657,703 P554S probably damaging Het
Top1mt A G 15: 75,676,031 F69L possibly damaging Het
Ttc7 A G 17: 87,340,897 K508R probably benign Het
Ttll4 A T 1: 74,679,007 T6S possibly damaging Het
Xpo5 T C 17: 46,222,717 Y500H possibly damaging Het
Xpot C T 10: 121,615,063 probably null Het
Zbbx T C 3: 75,085,041 I268V probably benign Het
Zbtb40 G A 4: 137,007,097 P360S probably damaging Het
Zfp324 T C 7: 12,971,306 L474P probably damaging Het
Zfp398 A G 6: 47,840,252 T9A probably benign Het
Zfp692 A C 11: 58,310,171 S293R probably null Het
Other mutations in Lrp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03123:Lrp11 APN 10 7602925 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CATTCAGAAGAGAAATCCAAAGCTG -3'
(R):5'- GGCTGGACAGGATTGATCTGAC -3'

Sequencing Primer
(F):5'- ATGAGTTCCAAGTTCTAGGCCAG -3'
(R):5'- ACAGGATTGATCTGACTCTCTGGC -3'
Posted On2015-12-29