Incidental Mutation 'R4996:Lpin3'
ID 385232
Institutional Source Beutler Lab
Gene Symbol Lpin3
Ensembl Gene ENSMUSG00000027412
Gene Name lipin 3
Synonyms 9130206L11Rik
MMRRC Submission 042590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4996 (G1)
Quality Score 143
Status Not validated
Chromosome 2
Chromosomal Location 160722590-160747920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 160747207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 811 (L811Q)
Ref Sequence ENSEMBL: ENSMUSP00000105082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040872] [ENSMUST00000057169] [ENSMUST00000109454] [ENSMUST00000109455] [ENSMUST00000109456] [ENSMUST00000109457]
AlphaFold Q99PI4
Predicted Effect probably damaging
Transcript: ENSMUST00000040872
AA Change: L811Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
AA Change: L811Q

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 5.8e-52 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
LNS2 637 793 1.4e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057169
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EMI 55 125 7.3e-18 PFAM
low complexity region 144 161 N/A INTRINSIC
low complexity region 281 295 N/A INTRINSIC
low complexity region 359 381 N/A INTRINSIC
low complexity region 451 460 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109454
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EMI 54 127 6.4e-22 PFAM
low complexity region 144 161 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
low complexity region 312 334 N/A INTRINSIC
low complexity region 404 413 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109455
AA Change: L780Q

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
AA Change: L780Q

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 2.4e-52 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 528 538 N/A INTRINSIC
LNS2 606 762 1.4e-105 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109456
AA Change: L811Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
AA Change: L811Q

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 5.8e-52 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
LNS2 637 793 1.4e-105 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109457
AA Change: L821Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
AA Change: L821Q

DomainStartEndE-ValueType
Pfam:Lipin_N 1 110 4.1e-48 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
Pfam:Lipin_mid 435 538 9.5e-35 PFAM
low complexity region 569 579 N/A INTRINSIC
LNS2 647 803 1.4e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124920
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Actl11 A G 9: 107,808,934 (GRCm39) I1086V possibly damaging Het
Adgrv1 T C 13: 81,726,853 (GRCm39) S500G probably benign Het
Ahcyl1 A T 3: 107,575,603 (GRCm39) V394E probably damaging Het
Alg9 T C 9: 50,720,005 (GRCm39) F494L probably damaging Het
Ankrd55 C A 13: 112,492,622 (GRCm39) D264E possibly damaging Het
Asb14 A G 14: 26,634,073 (GRCm39) N426S possibly damaging Het
Atm A T 9: 53,435,807 (GRCm39) F168I probably benign Het
Atp13a4 A T 16: 29,290,822 (GRCm39) I209N probably damaging Het
BB014433 A T 8: 15,092,166 (GRCm39) L229Q probably benign Het
Calml3 T C 13: 3,854,142 (GRCm39) D21G probably damaging Het
Capn10 A G 1: 92,872,858 (GRCm39) N528S probably damaging Het
Ccnl2 T A 4: 155,897,981 (GRCm39) D141E possibly damaging Het
Cd163 A G 6: 124,296,106 (GRCm39) I817V probably benign Het
Cgnl1 CTTGCCCAGGTT CTT 9: 71,632,108 (GRCm39) probably benign Het
Cln6 T A 9: 62,757,937 (GRCm39) I232N probably damaging Het
Col22a1 A C 15: 71,879,010 (GRCm39) V49G probably damaging Het
Csmd1 A T 8: 15,960,452 (GRCm39) M3321K probably damaging Het
Cyp2u1 T A 3: 131,091,933 (GRCm39) M196L probably benign Het
Dlec1 T G 9: 118,975,118 (GRCm39) L1566R probably damaging Het
Dnajc3 A G 14: 119,209,839 (GRCm39) T305A probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Efhd1 G T 1: 87,192,280 (GRCm39) G37W possibly damaging Het
Exph5 G C 9: 53,286,910 (GRCm39) E1330D possibly damaging Het
Fbln2 A T 6: 91,242,992 (GRCm39) Y913F probably benign Het
Fmnl1 G A 11: 103,073,482 (GRCm39) S167N possibly damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Gmpr2 T C 14: 55,914,252 (GRCm39) I169T probably damaging Het
Gria2 A G 3: 80,614,448 (GRCm39) S531P probably damaging Het
Hace1 G A 10: 45,526,046 (GRCm39) A296T probably benign Het
Ift70a1 C T 2: 75,810,266 (GRCm39) G606S probably benign Het
Inhbb A C 1: 119,348,548 (GRCm39) L90R probably damaging Het
Insr C T 8: 3,242,665 (GRCm39) R18Q probably null Het
Kdm6b G T 11: 69,296,557 (GRCm39) P570Q probably damaging Het
Lama3 T C 18: 12,651,800 (GRCm39) V1803A probably benign Het
Lrrc8e C T 8: 4,285,166 (GRCm39) L464F probably damaging Het
Micall2 A G 5: 139,696,344 (GRCm39) S729P probably benign Het
Naca C T 10: 127,878,298 (GRCm39) probably benign Het
Nav1 A T 1: 135,393,709 (GRCm39) S1010T probably damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,085,172 (GRCm39) F136I possibly damaging Het
Nup210 A T 6: 91,030,418 (GRCm39) F137Y probably benign Het
Or1o3 A G 17: 37,573,758 (GRCm39) S266P probably benign Het
Or3a1c A G 11: 74,046,157 (GRCm39) H59R probably damaging Het
Or8k32 T C 2: 86,368,615 (GRCm39) I215V probably benign Het
Otog C A 7: 45,948,030 (GRCm39) H2344N possibly damaging Het
Otog C A 7: 45,954,934 (GRCm39) C517* probably null Het
Pcdhac1 C T 18: 37,225,580 (GRCm39) Q798* probably null Het
Pdhx T C 2: 102,860,657 (GRCm39) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pgr C A 9: 8,900,914 (GRCm39) P149Q probably damaging Het
Plaat1 G A 16: 29,036,456 (GRCm39) W31* probably null Het
Ppm1h A T 10: 122,777,245 (GRCm39) I504F probably damaging Het
Ppp6r3 A G 19: 3,523,833 (GRCm39) S556P probably damaging Het
Ranbp9 G A 13: 43,578,570 (GRCm39) Q168* probably null Het
Relb A T 7: 19,349,528 (GRCm39) L259Q probably benign Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Rgcc T C 14: 79,527,716 (GRCm39) D125G possibly damaging Het
Rmnd5b A G 11: 51,518,735 (GRCm39) V86A probably damaging Het
Slc15a5 G A 6: 138,020,583 (GRCm39) T250M probably damaging Het
Slc7a2 A T 8: 41,365,599 (GRCm39) K477* probably null Het
Slx9 A T 10: 77,351,367 (GRCm39) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm39) probably null Het
Sox5 A T 6: 143,974,070 (GRCm39) L226* probably null Het
Sp140l2 G T 1: 85,224,815 (GRCm39) A240E probably benign Het
Syne2 A G 12: 75,990,724 (GRCm39) E1903G possibly damaging Het
Tenm3 A T 8: 48,688,861 (GRCm39) I2226N probably damaging Het
Tmtc3 A T 10: 100,283,086 (GRCm39) I823N probably damaging Het
Top6bl T A 19: 4,676,112 (GRCm39) K673N probably benign Het
Tor3a T C 1: 156,483,342 (GRCm39) Y360C probably damaging Het
Trpc3 T C 3: 36,716,967 (GRCm39) E357G probably benign Het
Tubgcp6 A T 15: 88,987,693 (GRCm39) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,887,052 (GRCm39) T164S probably benign Het
Vmn2r40 T A 7: 8,911,166 (GRCm39) Q709L probably damaging Het
Vmn2r81 A T 10: 79,129,247 (GRCm39) I713L probably benign Het
Washc5 T C 15: 59,205,484 (GRCm39) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign Het
Other mutations in Lpin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Lpin3 APN 2 160,735,918 (GRCm39) missense probably damaging 1.00
IGL01373:Lpin3 APN 2 160,745,649 (GRCm39) missense probably damaging 1.00
IGL01576:Lpin3 APN 2 160,739,047 (GRCm39) missense probably benign 0.02
IGL02124:Lpin3 APN 2 160,737,753 (GRCm39) critical splice donor site probably null
IGL02272:Lpin3 APN 2 160,743,581 (GRCm39) missense probably benign 0.15
IGL02314:Lpin3 APN 2 160,740,638 (GRCm39) nonsense probably null
IGL02374:Lpin3 APN 2 160,737,758 (GRCm39) splice site probably benign
IGL02554:Lpin3 APN 2 160,738,707 (GRCm39) missense probably damaging 1.00
IGL02693:Lpin3 APN 2 160,746,975 (GRCm39) missense probably damaging 1.00
IGL02858:Lpin3 APN 2 160,740,540 (GRCm39) splice site probably benign
IGL03143:Lpin3 APN 2 160,745,518 (GRCm39) splice site probably benign
R0100:Lpin3 UTSW 2 160,747,260 (GRCm39) missense probably damaging 1.00
R0100:Lpin3 UTSW 2 160,747,260 (GRCm39) missense probably damaging 1.00
R0211:Lpin3 UTSW 2 160,740,601 (GRCm39) missense probably damaging 1.00
R0211:Lpin3 UTSW 2 160,740,601 (GRCm39) missense probably damaging 1.00
R0329:Lpin3 UTSW 2 160,747,225 (GRCm39) missense probably benign
R0330:Lpin3 UTSW 2 160,747,225 (GRCm39) missense probably benign
R0570:Lpin3 UTSW 2 160,745,944 (GRCm39) splice site probably benign
R0633:Lpin3 UTSW 2 160,745,894 (GRCm39) missense probably damaging 0.99
R0781:Lpin3 UTSW 2 160,735,999 (GRCm39) missense probably benign 0.03
R1109:Lpin3 UTSW 2 160,740,941 (GRCm39) missense probably damaging 1.00
R1110:Lpin3 UTSW 2 160,735,999 (GRCm39) missense probably benign 0.03
R1404:Lpin3 UTSW 2 160,734,310 (GRCm39) critical splice donor site probably null
R1404:Lpin3 UTSW 2 160,734,310 (GRCm39) critical splice donor site probably null
R1513:Lpin3 UTSW 2 160,746,468 (GRCm39) missense probably damaging 1.00
R1543:Lpin3 UTSW 2 160,737,310 (GRCm39) missense possibly damaging 0.69
R1785:Lpin3 UTSW 2 160,738,729 (GRCm39) nonsense probably null
R1786:Lpin3 UTSW 2 160,738,729 (GRCm39) nonsense probably null
R1896:Lpin3 UTSW 2 160,747,218 (GRCm39) missense probably damaging 1.00
R4440:Lpin3 UTSW 2 160,740,565 (GRCm39) missense probably benign
R4470:Lpin3 UTSW 2 160,737,354 (GRCm39) missense probably benign 0.00
R5014:Lpin3 UTSW 2 160,746,748 (GRCm39) missense probably damaging 1.00
R5124:Lpin3 UTSW 2 160,738,981 (GRCm39) missense probably benign
R5184:Lpin3 UTSW 2 160,739,058 (GRCm39) missense probably benign
R5405:Lpin3 UTSW 2 160,745,849 (GRCm39) missense probably damaging 1.00
R5442:Lpin3 UTSW 2 160,746,936 (GRCm39) missense probably damaging 1.00
R5666:Lpin3 UTSW 2 160,739,250 (GRCm39) missense probably benign
R5670:Lpin3 UTSW 2 160,739,250 (GRCm39) missense probably benign
R5693:Lpin3 UTSW 2 160,737,320 (GRCm39) missense probably benign 0.00
R6084:Lpin3 UTSW 2 160,737,721 (GRCm39) missense probably benign 0.38
R6994:Lpin3 UTSW 2 160,746,803 (GRCm39) missense probably damaging 1.00
R7090:Lpin3 UTSW 2 160,738,672 (GRCm39) missense probably damaging 0.96
R7157:Lpin3 UTSW 2 160,740,627 (GRCm39) missense probably benign 0.02
R7207:Lpin3 UTSW 2 160,735,923 (GRCm39) nonsense probably null
R7430:Lpin3 UTSW 2 160,740,586 (GRCm39) missense probably benign 0.06
R7459:Lpin3 UTSW 2 160,739,220 (GRCm39) missense probably benign 0.06
R7603:Lpin3 UTSW 2 160,745,674 (GRCm39) splice site probably null
R7644:Lpin3 UTSW 2 160,738,690 (GRCm39) missense probably benign 0.02
R7706:Lpin3 UTSW 2 160,747,210 (GRCm39) missense probably damaging 1.00
R7803:Lpin3 UTSW 2 160,737,310 (GRCm39) missense possibly damaging 0.69
R8443:Lpin3 UTSW 2 160,737,273 (GRCm39) missense probably damaging 1.00
R8985:Lpin3 UTSW 2 160,738,674 (GRCm39) missense probably benign 0.00
R9288:Lpin3 UTSW 2 160,745,552 (GRCm39) missense probably damaging 1.00
R9385:Lpin3 UTSW 2 160,738,993 (GRCm39) missense probably benign
R9455:Lpin3 UTSW 2 160,737,259 (GRCm39) missense probably benign 0.02
R9482:Lpin3 UTSW 2 160,746,416 (GRCm39) missense probably damaging 1.00
R9700:Lpin3 UTSW 2 160,740,565 (GRCm39) missense probably benign 0.11
R9732:Lpin3 UTSW 2 160,734,196 (GRCm39) missense probably damaging 1.00
X0002:Lpin3 UTSW 2 160,745,637 (GRCm39) missense probably damaging 1.00
Z1088:Lpin3 UTSW 2 160,734,151 (GRCm39) missense probably damaging 0.99
Z1176:Lpin3 UTSW 2 160,741,705 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTCCCGAATCTTCACAGTC -3'
(R):5'- CGGCATGCATCTTCTAATCCTG -3'

Sequencing Primer
(F):5'- TTCACAGTCAACCCCCGGG -3'
(R):5'- GACTGTCCTAAGTACTCCATCAG -3'
Posted On 2016-05-10