Incidental Mutation 'R8947:Lpin2'
ID 681421
Institutional Source Beutler Lab
Gene Symbol Lpin2
Ensembl Gene ENSMUSG00000024052
Gene Name lipin 2
Synonyms 2610511G02Rik
MMRRC Submission 068785-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.473) question?
Stock # R8947 (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 A at 71511871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 34 (I34N)
Ref Sequence ENSEMBL: ENSMUSP00000118610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126681] [ENSMUST00000129635] [ENSMUST00000135589] [ENSMUST00000156570]
AlphaFold Q99PI5
Predicted Effect probably benign
Transcript: ENSMUST00000126681
AA Change: I34N

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: I34N

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 benign
Transcript: ENSMUST00000129635
SMART Domains Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052

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: ENSMUST00000135589
AA Change: I34N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: I34N

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 probably benign
Transcript: ENSMUST00000156570
SMART Domains Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (93/94)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,665,292 (GRCm39) F141L unknown Het
A2ml1 G T 6: 128,529,219 (GRCm39) N974K probably damaging Het
Abcg8 T C 17: 84,999,246 (GRCm39) L114P probably damaging Het
Akt3 A T 1: 176,958,645 (GRCm39) W22R probably damaging Het
Ank2 C T 3: 126,736,396 (GRCm39) probably benign Het
Ap1g1 C T 8: 110,589,964 (GRCm39) probably benign Het
Arhgef19 T A 4: 140,973,618 (GRCm39) V35E possibly damaging Het
Baz2b T C 2: 59,778,583 (GRCm39) D759G probably benign Het
BC051665 C A 13: 60,930,004 (GRCm39) G320W probably damaging Het
Bche T A 3: 73,608,761 (GRCm39) T222S probably damaging Het
C8a T C 4: 104,679,326 (GRCm39) D444G probably damaging Het
Cacna1e A T 1: 154,277,896 (GRCm39) S2019T probably benign Het
Carm1 T C 9: 21,497,749 (GRCm39) I373T probably damaging Het
Ccdc39 T C 3: 33,869,609 (GRCm39) probably benign Het
Clic5 A T 17: 44,553,148 (GRCm39) probably benign Het
Cntn3 A G 6: 102,414,864 (GRCm39) F28L probably damaging Het
Col6a5 C T 9: 105,822,833 (GRCm39) E175K unknown Het
Cpb2 T C 14: 75,515,627 (GRCm39) Y352H probably damaging Het
Cpeb3 A T 19: 37,152,366 (GRCm39) D3E probably damaging Het
Ctsl T C 13: 64,514,840 (GRCm39) T155A probably damaging Het
Cygb C T 11: 116,540,645 (GRCm39) A114T probably damaging Het
Cyp11a1 T C 9: 57,924,738 (GRCm39) V17A probably benign Het
Dhcr7 T G 7: 143,400,959 (GRCm39) I374S probably damaging Het
Dhx36 T C 3: 62,380,387 (GRCm39) R807G probably benign Het
Diaph1 A T 18: 37,986,754 (GRCm39) V1077E probably damaging Het
Ehmt2 A G 17: 35,127,280 (GRCm39) E131G possibly damaging Het
Evpl A G 11: 116,112,164 (GRCm39) I1842T probably damaging Het
Fastk C A 5: 24,646,649 (GRCm39) C294F probably damaging Het
Fndc5 T C 4: 129,030,929 (GRCm39) C20R probably benign Het
Gm7298 C A 6: 121,757,553 (GRCm39) Q1053K possibly damaging Het
Gm8362 A G 14: 18,151,405 (GRCm39) probably null Het
Gmps T A 3: 63,906,098 (GRCm39) I465N probably damaging Het
Heatr4 T G 12: 84,001,431 (GRCm39) M904L probably benign Het
Hhip T A 8: 80,771,785 (GRCm39) D175V probably damaging Het
Hmcn2 G A 2: 31,278,220 (GRCm39) V1641M probably damaging Het
Hoxa5 T G 6: 52,179,776 (GRCm39) T200P probably damaging Het
Ift122 C A 6: 115,901,368 (GRCm39) A1050D probably benign Het
Igf2bp2 C A 16: 21,897,473 (GRCm39) E247* probably null Het
Irak1bp1 T A 9: 82,728,846 (GRCm39) L259H probably damaging Het
Irgm1 G A 11: 48,759,575 (GRCm39) probably benign Het
Itih1 A T 14: 30,657,866 (GRCm39) probably benign Het
Itpk1 A T 12: 102,536,582 (GRCm39) C355S probably benign Het
Kcng4 T C 8: 120,352,452 (GRCm39) E486G possibly damaging Het
Kif20b T C 19: 34,918,629 (GRCm39) V671A possibly damaging Het
Kif28 T G 1: 179,544,320 (GRCm39) I345L possibly damaging Het
Klri2 C G 6: 129,710,742 (GRCm39) probably null Het
Kntc1 T C 5: 123,925,041 (GRCm39) V1118A probably benign Het
Lrch3 T A 16: 32,802,199 (GRCm39) V264D possibly damaging Het
Lrrk2 C T 15: 91,586,473 (GRCm39) Q430* probably null Het
Map10 T G 8: 126,397,839 (GRCm39) S411A probably benign Het
Map1a A T 2: 121,135,450 (GRCm39) I2089F probably benign Het
Med12l T A 3: 58,984,443 (GRCm39) probably benign Het
Mypn T A 10: 63,005,156 (GRCm39) Q317L probably damaging Het
Ncan T A 8: 70,555,171 (GRCm39) I999F probably damaging Het
Nmrk2 C A 10: 81,035,539 (GRCm39) R134L probably damaging Het
Or4k42 C T 2: 111,320,042 (GRCm39) V154I probably benign Het
Or51f1d T A 7: 102,701,315 (GRCm39) V270E probably damaging Het
Or5k17 T C 16: 58,746,433 (GRCm39) N167S probably benign Het
Or6z7 A G 7: 6,483,246 (GRCm39) V303A probably benign Het
Or8b1c T A 9: 38,384,685 (GRCm39) I214N probably damaging Het
Osbpl1a A G 18: 12,899,858 (GRCm39) probably null Het
Pcdh1 T C 18: 38,332,073 (GRCm39) D310G possibly damaging Het
Pkn2 C T 3: 142,517,674 (GRCm39) probably null Het
Plch1 T A 3: 63,691,547 (GRCm39) M31L probably damaging Het
Polg2 A G 11: 106,659,170 (GRCm39) F448L probably damaging Het
Ppp4r3b A G 11: 29,150,758 (GRCm39) T475A possibly damaging Het
Prdm13 C T 4: 21,678,817 (GRCm39) E558K probably damaging Het
Prdm9 T A 17: 15,764,270 (GRCm39) I837F possibly damaging Het
R3hdm1 T A 1: 128,102,694 (GRCm39) M125K possibly damaging Het
Rbm39 A T 2: 155,990,276 (GRCm39) V468E probably damaging Het
Rnasel T A 1: 153,630,777 (GRCm39) V431E probably damaging Het
Rps2 T A 17: 24,940,227 (GRCm39) D220E probably benign Het
Rsf1 T C 7: 97,331,059 (GRCm39) probably benign Het
Rsph10b G T 5: 143,913,952 (GRCm39) A710S probably benign Het
Sez6 A T 11: 77,844,353 (GRCm39) T59S probably damaging Het
Sf3b1 A T 1: 55,039,444 (GRCm39) V727E probably damaging Het
Slit2 T G 5: 48,407,140 (GRCm39) L857R probably damaging Het
Spata31g1 T A 4: 42,972,097 (GRCm39) S477T probably benign Het
Sspo T G 6: 48,425,504 (GRCm39) C42G probably damaging Het
Strc C T 2: 121,201,470 (GRCm39) D1245N probably benign Het
Supv3l1 T A 10: 62,268,118 (GRCm39) T576S probably benign Het
Tecrl C T 5: 83,461,154 (GRCm39) R101Q probably benign Het
Tmeff2 A G 1: 51,220,952 (GRCm39) Y309C probably damaging Het
Tmem43 T A 6: 91,462,362 (GRCm39) W316R probably damaging Het
Tmigd3 T C 3: 105,821,554 (GRCm39) V141A probably benign Het
Trav9-1 T C 14: 53,725,584 (GRCm39) F8L probably benign Het
Trbv5 T G 6: 41,039,641 (GRCm39) F82C probably damaging Het
Ubtf T C 11: 102,205,802 (GRCm39) N41S possibly damaging Het
Uggt1 T C 1: 36,197,229 (GRCm39) T1225A probably benign Het
Vmn1r72 T C 7: 11,403,807 (GRCm39) R214G possibly damaging Het
Vmn2r12 T G 5: 109,234,522 (GRCm39) K563N possibly damaging Het
Vmn2r83 T C 10: 79,304,873 (GRCm39) S28P probably benign Het
Vwa8 T G 14: 79,438,552 (GRCm39) L1875R probably damaging Het
Xrcc6 T A 15: 81,913,866 (GRCm39) V64E probably damaging Het
Zfp292 T C 4: 34,811,835 (GRCm39) Y403C probably damaging Het
Zfp955a A T 17: 33,460,955 (GRCm39) H392Q probably damaging Het
Zfyve19 T C 2: 119,041,290 (GRCm39) S69P 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
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
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'- TCCCTTTCTGCGGCAGTTAG -3'
(R):5'- GGGCAGCCAAAGATTTGTGTTC -3'

Sequencing Primer
(F):5'- AGCACTTGGTTGTCCACAG -3'
(R):5'- ATTTTCCAAACGAGGGGC -3'
Posted On 2021-08-31