Incidental Mutation 'IGL01712:Lpin2'
ID 104818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpin2
Ensembl Gene ENSMUSG00000024052
Gene Name lipin 2
Synonyms 2610511G02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.473) question?
Stock # IGL01712
Quality Score
Status
Chromosome 17
Chromosomal Location 71490527-71556813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71522063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 32 (D32E)
Ref Sequence ENSEMBL: ENSMUSP00000120634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126681] [ENSMUST00000129635] [ENSMUST00000135589] [ENSMUST00000156570]
AlphaFold Q99PI5
Predicted Effect probably damaging
Transcript: ENSMUST00000126681
AA Change: D70E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: D70E

DomainStartEndE-ValueType
Pfam:Lipin_N 39 148 1e-47 PFAM
low complexity region 191 206 N/A INTRINSIC
low complexity region 217 227 N/A INTRINSIC
low complexity region 398 420 N/A INTRINSIC
Pfam:Lipin_mid 504 596 6.1e-37 PFAM
LNS2 720 876 2.18e-107 SMART
low complexity region 924 930 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129635
AA Change: D32E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: D32E

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 2.2e-53 PFAM
low complexity region 153 168 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
low complexity region 360 382 N/A INTRINSIC
LNS2 682 838 2.18e-107 SMART
low complexity region 886 892 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135589
AA Change: D70E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: D70E

DomainStartEndE-ValueType
Pfam:Lipin_N 39 152 2.3e-54 PFAM
low complexity region 191 206 N/A INTRINSIC
low complexity region 217 227 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149973
Predicted Effect probably damaging
Transcript: ENSMUST00000156570
AA Change: D32E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: D32E

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 8.5e-54 PFAM
low complexity region 153 168 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
low complexity region 360 382 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180743
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop ataxia, impaired blance, and tremors with age and show altered cerebellar phospholipid composition and anemia. Mice show diet-induced hepatic triglyceride accumulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,321 (GRCm39) I164N possibly damaging Het
Adgrb3 A G 1: 25,865,360 (GRCm39) V161A probably benign Het
Arhgdib G A 6: 136,901,195 (GRCm39) T178M probably damaging Het
Atp11a T A 8: 12,901,138 (GRCm39) I989K probably benign Het
Bcam T C 7: 19,492,692 (GRCm39) S498G probably damaging Het
Bcas3 A G 11: 85,471,874 (GRCm39) I728V probably damaging Het
Cep57 G T 9: 13,724,713 (GRCm39) P119Q possibly damaging Het
Cimip2a T C 2: 25,108,804 (GRCm39) probably benign Het
Clip4 T A 17: 72,106,036 (GRCm39) I73N probably damaging Het
Cpa4 A G 6: 30,590,815 (GRCm39) D371G possibly damaging Het
Dnah7a A G 1: 53,462,429 (GRCm39) S3721P probably benign Het
Fcrla T C 1: 170,749,192 (GRCm39) probably null Het
Foxg1 T C 12: 49,432,403 (GRCm39) S379P possibly damaging Het
Gatm T A 2: 122,431,306 (GRCm39) Y227F possibly damaging Het
Grid2 A T 6: 64,642,899 (GRCm39) D887V possibly damaging Het
Gtpbp6 A T 5: 110,252,245 (GRCm39) I429N probably benign Het
Ighmbp2 A G 19: 3,323,038 (GRCm39) probably benign Het
Irs4 T C X: 140,505,395 (GRCm39) N934D unknown Het
Kif16b T A 2: 142,490,391 (GRCm39) N1257I probably damaging Het
L1cam T C X: 72,908,044 (GRCm39) Y169C probably damaging Het
L3mbtl3 A T 10: 26,152,133 (GRCm39) M821K probably damaging Het
Lig3 A G 11: 82,680,367 (GRCm39) probably benign Het
Mcoln3 T C 3: 145,834,019 (GRCm39) probably benign Het
Mgst2 T C 3: 51,571,992 (GRCm39) V40A probably damaging Het
Mov10l1 T C 15: 88,908,969 (GRCm39) S997P probably damaging Het
Mycbpap G T 11: 94,403,481 (GRCm39) H187Q possibly damaging Het
Onecut2 T A 18: 64,519,673 (GRCm39) S478T probably damaging Het
Or2n1d A T 17: 38,646,848 (GRCm39) T267S probably benign Het
Or52h7 T C 7: 104,214,226 (GRCm39) V266A probably benign Het
Pcdhb5 A T 18: 37,454,306 (GRCm39) I229F probably damaging Het
Pfas A G 11: 68,881,886 (GRCm39) V933A probably benign Het
Phldb2 A T 16: 45,571,792 (GRCm39) I1200N probably damaging Het
Pla2g4e C A 2: 120,019,884 (GRCm39) probably null Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Rhot2 A G 17: 26,060,334 (GRCm39) probably null Het
Serpina3f C T 12: 104,184,657 (GRCm39) P267L probably damaging Het
Sppl2a C T 2: 126,746,823 (GRCm39) probably benign Het
Tas2r122 A T 6: 132,688,725 (GRCm39) M56K possibly damaging Het
Tbxas1 A G 6: 39,057,994 (GRCm39) T450A probably benign Het
Tex16 T C X: 111,003,451 (GRCm39) S87P probably damaging Het
Them7 T A 2: 105,209,230 (GRCm39) F183L possibly damaging Het
Tmbim7 A G 5: 3,720,074 (GRCm39) T116A probably damaging Het
Tomm40 G T 7: 19,437,288 (GRCm39) S224R probably benign Het
Top3a A T 11: 60,652,562 (GRCm39) I84N probably damaging Het
Vmn1r28 A G 6: 58,242,393 (GRCm39) T79A probably benign Het
Vmn2r61 A T 7: 41,909,661 (GRCm39) Y62F probably damaging Het
Zbtb42 T C 12: 112,646,718 (GRCm39) C298R probably benign Het
Zfp395 G A 14: 65,623,836 (GRCm39) E102K probably damaging Het
Other mutations in Lpin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Lpin2 APN 17 71,550,967 (GRCm39) missense probably damaging 1.00
IGL01727:Lpin2 APN 17 71,553,447 (GRCm39) missense probably damaging 1.00
IGL01969:Lpin2 APN 17 71,538,502 (GRCm39) missense probably benign 0.00
IGL02143:Lpin2 APN 17 71,550,921 (GRCm39) missense probably damaging 1.00
IGL02600:Lpin2 APN 17 71,545,693 (GRCm39) missense probably damaging 0.99
IGL02931:Lpin2 APN 17 71,545,678 (GRCm39) missense probably damaging 1.00
aspen UTSW 17 71,550,965 (GRCm39) nonsense probably null
R1570_Lpin2_218 UTSW 17 71,552,176 (GRCm39) nonsense probably null
R0144:Lpin2 UTSW 17 71,532,071 (GRCm39) missense probably damaging 1.00
R0165:Lpin2 UTSW 17 71,553,514 (GRCm39) missense probably damaging 1.00
R0367:Lpin2 UTSW 17 71,522,017 (GRCm39) missense probably damaging 1.00
R0648:Lpin2 UTSW 17 71,536,307 (GRCm39) missense probably benign 0.01
R1564:Lpin2 UTSW 17 71,532,055 (GRCm39) missense probably benign 0.01
R1570:Lpin2 UTSW 17 71,552,176 (GRCm39) nonsense probably null
R1846:Lpin2 UTSW 17 71,532,064 (GRCm39) missense probably benign 0.00
R3607:Lpin2 UTSW 17 71,536,387 (GRCm39) missense probably damaging 1.00
R4006:Lpin2 UTSW 17 71,553,496 (GRCm39) missense probably damaging 1.00
R4526:Lpin2 UTSW 17 71,544,373 (GRCm39) splice site probably null
R4705:Lpin2 UTSW 17 71,539,138 (GRCm39) unclassified probably benign
R4949:Lpin2 UTSW 17 71,538,334 (GRCm39) missense probably damaging 1.00
R4970:Lpin2 UTSW 17 71,538,329 (GRCm39) missense probably damaging 0.98
R5099:Lpin2 UTSW 17 71,550,965 (GRCm39) nonsense probably null
R5100:Lpin2 UTSW 17 71,550,965 (GRCm39) nonsense probably null
R5101:Lpin2 UTSW 17 71,550,965 (GRCm39) nonsense probably null
R5152:Lpin2 UTSW 17 71,552,154 (GRCm39) missense probably damaging 1.00
R5216:Lpin2 UTSW 17 71,549,755 (GRCm39) missense probably damaging 1.00
R5321:Lpin2 UTSW 17 71,553,853 (GRCm39) missense probably damaging 1.00
R5457:Lpin2 UTSW 17 71,550,367 (GRCm39) missense probably damaging 1.00
R5695:Lpin2 UTSW 17 71,551,798 (GRCm39) missense probably damaging 1.00
R5786:Lpin2 UTSW 17 71,537,268 (GRCm39) missense probably benign 0.03
R5869:Lpin2 UTSW 17 71,539,271 (GRCm39) unclassified probably benign
R5894:Lpin2 UTSW 17 71,553,929 (GRCm39) missense probably benign 0.39
R6116:Lpin2 UTSW 17 71,550,925 (GRCm39) missense probably damaging 1.00
R6253:Lpin2 UTSW 17 71,538,264 (GRCm39) missense probably damaging 1.00
R6280:Lpin2 UTSW 17 71,539,243 (GRCm39) unclassified probably benign
R6443:Lpin2 UTSW 17 71,548,663 (GRCm39) missense probably benign 0.25
R6528:Lpin2 UTSW 17 71,551,000 (GRCm39) missense probably damaging 1.00
R6634:Lpin2 UTSW 17 71,553,413 (GRCm39) missense probably damaging 1.00
R6828:Lpin2 UTSW 17 71,529,123 (GRCm39) missense probably damaging 1.00
R6885:Lpin2 UTSW 17 71,522,145 (GRCm39) missense probably damaging 1.00
R6930:Lpin2 UTSW 17 71,551,786 (GRCm39) missense probably damaging 1.00
R7067:Lpin2 UTSW 17 71,551,853 (GRCm39) missense possibly damaging 0.72
R7583:Lpin2 UTSW 17 71,538,391 (GRCm39) nonsense probably null
R7806:Lpin2 UTSW 17 71,552,166 (GRCm39) missense probably damaging 1.00
R7840:Lpin2 UTSW 17 71,537,269 (GRCm39) missense probably benign 0.14
R8011:Lpin2 UTSW 17 71,537,370 (GRCm39) missense probably benign 0.43
R8553:Lpin2 UTSW 17 71,538,232 (GRCm39) missense probably damaging 1.00
R8879:Lpin2 UTSW 17 71,549,749 (GRCm39) missense probably damaging 1.00
R8947:Lpin2 UTSW 17 71,511,871 (GRCm39) missense probably benign 0.44
R8983:Lpin2 UTSW 17 71,553,962 (GRCm39) missense unknown
R9109:Lpin2 UTSW 17 71,538,516 (GRCm39) critical splice donor site probably null
R9184:Lpin2 UTSW 17 71,540,911 (GRCm39) nonsense probably null
R9242:Lpin2 UTSW 17 71,553,966 (GRCm39) makesense probably null
R9447:Lpin2 UTSW 17 71,539,087 (GRCm39) missense unknown
R9573:Lpin2 UTSW 17 71,538,185 (GRCm39) missense probably benign 0.00
R9603:Lpin2 UTSW 17 71,550,410 (GRCm39) missense probably damaging 1.00
R9666:Lpin2 UTSW 17 71,529,065 (GRCm39) missense probably damaging 1.00
Z1176:Lpin2 UTSW 17 71,532,206 (GRCm39) nonsense probably null
Posted On 2014-01-21