Incidental Mutation 'R6930:Lpin2'
ID 539978
Institutional Source Beutler Lab
Gene Symbol Lpin2
Ensembl Gene ENSMUSG00000024052
Gene Name lipin 2
Synonyms 2610511G02Rik
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.473) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 71490527-71556813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71551786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 729 (Y729H)
Ref Sequence ENSEMBL: ENSMUSP00000119282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126681] [ENSMUST00000129635]
AlphaFold Q99PI5
Predicted Effect probably damaging
Transcript: ENSMUST00000126681
AA Change: Y767H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: Y767H

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: Y729H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: Y729H

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 benign
Transcript: ENSMUST00000154507
SMART Domains Protein: ENSMUSP00000127035
Gene: ENSMUSG00000024052

DomainStartEndE-ValueType
Pfam:Lipin_mid 1 55 2.3e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,466,563 (GRCm39) D156E probably benign Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Akr1e1 T C 13: 4,652,714 (GRCm39) D41G probably damaging Het
Alcam T C 16: 52,126,018 (GRCm39) I100V probably benign Het
Atr T C 9: 95,748,688 (GRCm39) I411T probably benign Het
Bbs4 T C 9: 59,230,764 (GRCm39) S453G probably benign Het
Brdt C T 5: 107,507,081 (GRCm39) L494F probably benign Het
Ccser1 T C 6: 62,357,009 (GRCm39) S816P probably benign Het
Cdk10 T C 8: 123,957,347 (GRCm39) I157T probably damaging Het
Ceacam5 G A 7: 17,484,759 (GRCm39) probably null Het
Chst15 T C 7: 131,870,759 (GRCm39) I259V possibly damaging Het
Cracdl A T 1: 37,664,026 (GRCm39) I624N possibly damaging Het
Csmd1 A T 8: 16,142,409 (GRCm39) M1498K probably damaging Het
D630045J12Rik T C 6: 38,135,151 (GRCm39) D1343G probably damaging Het
Denr T C 5: 124,046,250 (GRCm39) Y27H probably benign Het
Dop1a T C 9: 86,413,825 (GRCm39) probably null Het
Epg5 T C 18: 78,057,378 (GRCm39) F1819S probably damaging Het
Flg2 T A 3: 93,108,642 (GRCm39) Y223* probably null Het
Fry T C 5: 150,351,695 (GRCm39) L1733P probably benign Het
Gabrb2 T C 11: 42,488,440 (GRCm39) V302A probably damaging Het
Gimap9 G A 6: 48,654,601 (GRCm39) D53N probably damaging Het
Gje1 G T 10: 14,593,886 (GRCm39) L3I possibly damaging Het
Gm49383 G T 12: 69,239,586 (GRCm39) A645E probably damaging Het
Gm8947 G A 1: 151,068,347 (GRCm39) G60D probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gys2 A G 6: 142,405,106 (GRCm39) probably null Het
Hace1 A G 10: 45,494,598 (GRCm39) H136R probably damaging Het
Herc3 T G 6: 58,893,444 (GRCm39) V902G probably damaging Het
Hspbp1 T C 7: 4,687,606 (GRCm39) R2G probably benign Het
Iqch T A 9: 63,387,856 (GRCm39) K811N possibly damaging Het
Kmt2a A G 9: 44,753,962 (GRCm39) probably benign Het
Lonrf2 A T 1: 38,843,417 (GRCm39) V372D probably benign Het
Lrrc32 A G 7: 98,148,471 (GRCm39) N417S possibly damaging Het
Malrd1 T A 2: 15,802,478 (GRCm39) C1064S unknown Het
Mast3 G A 8: 71,252,115 (GRCm39) R20* probably null Het
Mypn A C 10: 62,952,718 (GRCm39) I174S probably damaging Het
Nrg1 G A 8: 32,308,534 (GRCm39) T505M probably damaging Het
Or13p8 A G 4: 118,584,338 (GRCm39) K298R probably damaging Het
Or6y1 A G 1: 174,276,677 (GRCm39) I163V probably damaging Het
Or7a42 A G 10: 78,791,615 (GRCm39) D192G possibly damaging Het
Or7e178 A G 9: 20,225,395 (GRCm39) Y266H probably damaging Het
Phf3 T C 1: 30,850,958 (GRCm39) E1132G probably damaging Het
Pla2g4d A T 2: 120,101,114 (GRCm39) M521K probably damaging Het
Plekhg1 A G 10: 3,913,770 (GRCm39) H1164R possibly damaging Het
Plxnb2 A G 15: 89,044,592 (GRCm39) V1218A probably benign Het
Pold1 A G 7: 44,191,630 (GRCm39) S119P probably benign Het
Pole T A 5: 110,441,156 (GRCm39) D203E probably benign Het
Rapgefl1 T A 11: 98,737,947 (GRCm39) L387Q probably damaging Het
Rbm33 T C 5: 28,557,504 (GRCm39) I199T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 C A 11: 50,289,207 (GRCm39) R545L probably benign Het
Ryr3 T A 2: 112,690,699 (GRCm39) D1117V probably damaging Het
Sap130 T C 18: 31,815,141 (GRCm39) V621A possibly damaging Het
Sparcl1 T A 5: 104,234,940 (GRCm39) Y525F probably damaging Het
Spon2 A G 5: 33,373,771 (GRCm39) V180A probably benign Het
Trav10n G A 14: 53,359,947 (GRCm39) V75M probably benign Het
Ttc34 T C 4: 154,923,543 (GRCm39) L84P probably damaging Het
Vmn1r23 C T 6: 57,903,130 (GRCm39) R216K probably benign Het
Vmn2r61 A G 7: 41,949,364 (GRCm39) T595A probably benign Het
Vmn2r66 T A 7: 84,661,216 (GRCm39) I5F possibly damaging Het
Zfp879 C T 11: 50,723,839 (GRCm39) G406R probably damaging Het
Zic2 A T 14: 122,713,869 (GRCm39) D261V probably damaging Het
Other mutations in Lpin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Lpin2 APN 17 71,550,967 (GRCm39) missense probably damaging 1.00
IGL01712:Lpin2 APN 17 71,522,063 (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
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
Predicted Primers PCR Primer
(F):5'- CCAGTGTGTACAACCCTAACTGG -3'
(R):5'- TTAATCTCTGGGCACTGTCG -3'

Sequencing Primer
(F):5'- CTAACTGGGTTTCTTCTAAGTTCAG -3'
(R):5'- TTCCTTGCTGGGCCCTGAG -3'
Posted On 2018-11-06