Incidental Mutation 'IGL03365:Lrp12'
ID420067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp12
Ensembl Gene ENSMUSG00000022305
Gene Namelow density lipoprotein-related protein 12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL03365
Quality Score
Status
Chromosome15
Chromosomal Location39870589-39943994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39872521 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 672 (S672T)
Ref Sequence ENSEMBL: ENSMUSP00000105934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022916] [ENSMUST00000110305]
Predicted Effect probably benign
Transcript: ENSMUST00000022916
AA Change: S691T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: S691T

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
CUB 47 159 3.23e-28 SMART
LDLa 167 202 1.27e-11 SMART
LDLa 214 256 1.04e-7 SMART
CUB 259 372 9.88e-24 SMART
LDLa 374 412 2.6e-3 SMART
LDLa 413 450 2.36e-6 SMART
LDLa 451 487 5.1e-11 SMART
low complexity region 630 646 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
low complexity region 708 722 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110305
AA Change: S672T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: S672T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CUB 28 140 3.23e-28 SMART
LDLa 148 183 1.27e-11 SMART
LDLa 195 237 1.04e-7 SMART
CUB 240 353 9.88e-24 SMART
LDLa 355 393 2.6e-3 SMART
LDLa 394 431 2.36e-6 SMART
LDLa 432 468 5.1e-11 SMART
low complexity region 611 627 N/A INTRINSIC
low complexity region 634 645 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Lrp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Lrp12 APN 15 39878101 missense probably damaging 1.00
IGL02501:Lrp12 APN 15 39877904 missense probably damaging 1.00
IGL02850:Lrp12 APN 15 39878575 missense probably damaging 1.00
R0010:Lrp12 UTSW 15 39878276 missense probably damaging 1.00
R0047:Lrp12 UTSW 15 39878239 missense probably damaging 1.00
R0416:Lrp12 UTSW 15 39878911 splice site probably benign
R0840:Lrp12 UTSW 15 39876158 missense probably damaging 1.00
R1053:Lrp12 UTSW 15 39877981 missense probably damaging 1.00
R1158:Lrp12 UTSW 15 39878431 missense probably damaging 1.00
R1288:Lrp12 UTSW 15 39878403 missense probably damaging 1.00
R1350:Lrp12 UTSW 15 39878250 nonsense probably null
R1416:Lrp12 UTSW 15 39878623 missense probably damaging 1.00
R1548:Lrp12 UTSW 15 39872506 missense probably damaging 0.99
R1691:Lrp12 UTSW 15 39872265 missense probably damaging 1.00
R1696:Lrp12 UTSW 15 39878361 missense probably damaging 0.99
R2050:Lrp12 UTSW 15 39872589 missense probably damaging 0.99
R2513:Lrp12 UTSW 15 39876111 missense probably damaging 1.00
R3415:Lrp12 UTSW 15 39878282 missense probably damaging 1.00
R3417:Lrp12 UTSW 15 39878282 missense probably damaging 1.00
R4118:Lrp12 UTSW 15 39877965 nonsense probably null
R4167:Lrp12 UTSW 15 39885013 missense probably damaging 1.00
R4214:Lrp12 UTSW 15 39872580 missense probably benign 0.33
R4643:Lrp12 UTSW 15 39872022 missense probably damaging 1.00
R5008:Lrp12 UTSW 15 39878456 missense probably damaging 1.00
R5061:Lrp12 UTSW 15 39878254 missense probably damaging 1.00
R5165:Lrp12 UTSW 15 39872461 missense probably benign
R5910:Lrp12 UTSW 15 39876043 intron probably null
R6038:Lrp12 UTSW 15 39872380 missense probably damaging 0.99
R6038:Lrp12 UTSW 15 39872380 missense probably damaging 0.99
R6047:Lrp12 UTSW 15 39872067 missense probably damaging 1.00
R6351:Lrp12 UTSW 15 39878188 missense probably damaging 1.00
R6392:Lrp12 UTSW 15 39872019 missense probably damaging 1.00
R7026:Lrp12 UTSW 15 39880170 missense probably damaging 1.00
Posted On2016-08-02