Incidental Mutation 'R7389:Pnpla6'
ID 573309
Institutional Source Beutler Lab
Gene Symbol Pnpla6
Ensembl Gene ENSMUSG00000004565
Gene Name patatin-like phospholipase domain containing 6
Synonyms Nte, Swiss-cheese, MSws
MMRRC Submission 045471-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7389 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3565384-3594267 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 3593981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1331 (R1331*)
Ref Sequence ENSEMBL: ENSMUSP00000146680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000111070] [ENSMUST00000207421] [ENSMUST00000207941] [ENSMUST00000208002]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000004681
AA Change: R1313*
SMART Domains Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565
AA Change: R1313*

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
cNMP 147 272 3.17e-13 SMART
cNMP 465 584 3.17e-4 SMART
cNMP 587 703 3.45e-5 SMART
Blast:cNMP 742 777 7e-11 BLAST
Pfam:Patatin 933 1099 5e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111070
AA Change: R1313*
SMART Domains Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565
AA Change: R1313*

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
cNMP 147 272 3.17e-13 SMART
cNMP 465 584 3.17e-4 SMART
cNMP 587 703 3.45e-5 SMART
Blast:cNMP 742 777 7e-11 BLAST
Pfam:Patatin 933 1099 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207336
Predicted Effect probably benign
Transcript: ENSMUST00000207421
Predicted Effect probably null
Transcript: ENSMUST00000207941
AA Change: R1302*
Predicted Effect probably null
Transcript: ENSMUST00000208002
AA Change: R1331*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C A 14: 25,873,312 (GRCm39) P182Q probably damaging Het
Asns C A 6: 7,689,291 (GRCm39) L70F probably damaging Het
Cntrl A T 2: 35,017,529 (GRCm39) K445N probably benign Het
Cyp2c50 G T 19: 40,079,107 (GRCm39) R150L probably benign Het
Dqx1 G T 6: 83,041,775 (GRCm39) S539I probably null Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Epha3 T C 16: 63,593,347 (GRCm39) E247G probably damaging Het
Etl4 C T 2: 20,789,904 (GRCm39) Q801* probably null Het
Fabp2 G T 3: 122,689,014 (GRCm39) probably benign Het
Fsip2 G A 2: 82,819,140 (GRCm39) V4958I possibly damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Hdgfl2 T G 17: 56,406,389 (GRCm39) probably null Het
Igfn1 T C 1: 135,894,785 (GRCm39) D1927G probably benign Het
Ino80 A C 2: 119,273,010 (GRCm39) S489A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrriq3 A G 3: 154,893,741 (GRCm39) T481A probably benign Het
Map2k3 A T 11: 60,822,862 (GRCm39) probably benign Het
Matr3 A G 18: 35,717,638 (GRCm39) T617A probably benign Het
Mybpc2 T G 7: 44,155,028 (GRCm39) T960P probably benign Het
Ncoa2 T C 1: 13,257,049 (GRCm39) N150S possibly damaging Het
Nup153 A T 13: 46,854,463 (GRCm39) probably null Het
Obscn A G 11: 58,927,226 (GRCm39) L5498P probably benign Het
Or5b21 G T 19: 12,839,981 (GRCm39) V281L probably benign Het
Or5v1b A G 17: 37,841,548 (GRCm39) R227G possibly damaging Het
Paqr8 C A 1: 21,005,389 (GRCm39) P181Q probably damaging Het
Pcdhgb4 T C 18: 37,855,416 (GRCm39) Y604H probably damaging Het
Pja2 T A 17: 64,604,722 (GRCm39) E487V probably damaging Het
Ppl T A 16: 4,924,577 (GRCm39) probably null Het
Rhbdl3 T A 11: 80,237,665 (GRCm39) M299K possibly damaging Het
Scart1 A G 7: 139,808,704 (GRCm39) K872E possibly damaging Het
Slc26a9 A G 1: 131,696,986 (GRCm39) *791W probably null Het
Slc7a2 A G 8: 41,365,552 (GRCm39) Y461C probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Ssh1 A T 5: 114,096,892 (GRCm39) I205N probably benign Het
Stab1 C T 14: 30,869,196 (GRCm39) V1511I probably benign Het
Tex19.1 T C 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tinf2 G T 14: 55,918,167 (GRCm39) probably null Het
Tmeff1 A G 4: 48,617,097 (GRCm39) probably null Het
Tnip2 G T 5: 34,671,145 (GRCm39) Q33K probably benign Het
Traf3 C A 12: 111,204,187 (GRCm39) L59M probably damaging Het
Trav14d-3-dv8 T C 14: 53,316,328 (GRCm39) Y63H possibly damaging Het
Trim11 C T 11: 58,881,481 (GRCm39) S458L probably damaging Het
Tspan18 A T 2: 93,040,272 (GRCm39) V161E probably benign Het
Usf3 T A 16: 44,038,304 (GRCm39) V928E probably benign Het
Usp29 G A 7: 6,966,457 (GRCm39) V767I possibly damaging Het
Usp34 T G 11: 23,295,200 (GRCm39) F287L Het
Vmn1r213 T C 13: 23,196,556 (GRCm39) C380R probably benign Het
Zfyve9 A G 4: 108,550,515 (GRCm39) probably null Het
Other mutations in Pnpla6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Pnpla6 APN 8 3,573,808 (GRCm39) missense probably damaging 1.00
IGL00820:Pnpla6 APN 8 3,582,358 (GRCm39) missense possibly damaging 0.95
IGL00839:Pnpla6 APN 8 3,592,299 (GRCm39) missense probably benign 0.05
IGL01732:Pnpla6 APN 8 3,572,616 (GRCm39) missense probably damaging 0.99
IGL01973:Pnpla6 APN 8 3,567,619 (GRCm39) missense probably damaging 1.00
IGL02267:Pnpla6 APN 8 3,567,327 (GRCm39) missense probably benign 0.00
IGL03246:Pnpla6 APN 8 3,581,530 (GRCm39) missense probably benign 0.01
IGL03286:Pnpla6 APN 8 3,581,473 (GRCm39) missense probably damaging 0.99
Immemorial UTSW 8 3,581,677 (GRCm39) missense probably benign 0.38
Mammilary UTSW 8 3,571,384 (GRCm39) missense probably benign 0.01
I0000:Pnpla6 UTSW 8 3,592,322 (GRCm39) missense probably benign
R0141:Pnpla6 UTSW 8 3,582,117 (GRCm39) critical splice donor site probably null
R0180:Pnpla6 UTSW 8 3,574,250 (GRCm39) critical splice acceptor site probably null
R0377:Pnpla6 UTSW 8 3,591,501 (GRCm39) missense probably damaging 1.00
R0563:Pnpla6 UTSW 8 3,573,333 (GRCm39) missense possibly damaging 0.51
R0660:Pnpla6 UTSW 8 3,572,269 (GRCm39) unclassified probably benign
R0786:Pnpla6 UTSW 8 3,573,317 (GRCm39) missense probably benign
R0827:Pnpla6 UTSW 8 3,567,618 (GRCm39) missense possibly damaging 0.71
R0882:Pnpla6 UTSW 8 3,567,081 (GRCm39) missense probably damaging 1.00
R1512:Pnpla6 UTSW 8 3,585,459 (GRCm39) splice site probably benign
R1552:Pnpla6 UTSW 8 3,572,403 (GRCm39) missense probably damaging 1.00
R1609:Pnpla6 UTSW 8 3,567,135 (GRCm39) missense probably damaging 1.00
R1770:Pnpla6 UTSW 8 3,584,634 (GRCm39) missense possibly damaging 0.94
R1779:Pnpla6 UTSW 8 3,591,404 (GRCm39) missense probably damaging 1.00
R1987:Pnpla6 UTSW 8 3,592,370 (GRCm39) missense probably benign 0.00
R3079:Pnpla6 UTSW 8 3,591,512 (GRCm39) missense probably benign 0.25
R3125:Pnpla6 UTSW 8 3,584,670 (GRCm39) missense probably null 1.00
R4171:Pnpla6 UTSW 8 3,593,997 (GRCm39) missense probably benign 0.09
R4281:Pnpla6 UTSW 8 3,571,513 (GRCm39) missense probably damaging 1.00
R4674:Pnpla6 UTSW 8 3,571,412 (GRCm39) missense probably damaging 1.00
R4776:Pnpla6 UTSW 8 3,573,818 (GRCm39) missense probably benign 0.01
R4779:Pnpla6 UTSW 8 3,572,838 (GRCm39) missense probably benign 0.00
R5114:Pnpla6 UTSW 8 3,572,613 (GRCm39) missense probably damaging 0.98
R5459:Pnpla6 UTSW 8 3,585,829 (GRCm39) missense probably benign 0.01
R5510:Pnpla6 UTSW 8 3,571,397 (GRCm39) missense probably damaging 0.99
R5538:Pnpla6 UTSW 8 3,581,508 (GRCm39) missense probably benign 0.01
R5664:Pnpla6 UTSW 8 3,587,478 (GRCm39) missense probably damaging 0.98
R6063:Pnpla6 UTSW 8 3,574,156 (GRCm39) missense probably benign 0.21
R6314:Pnpla6 UTSW 8 3,571,572 (GRCm39) missense probably benign 0.39
R6321:Pnpla6 UTSW 8 3,594,015 (GRCm39) missense probably benign
R6454:Pnpla6 UTSW 8 3,587,986 (GRCm39) missense probably damaging 0.99
R6477:Pnpla6 UTSW 8 3,586,627 (GRCm39) missense probably benign 0.00
R6524:Pnpla6 UTSW 8 3,584,519 (GRCm39) splice site probably null
R6809:Pnpla6 UTSW 8 3,584,611 (GRCm39) missense possibly damaging 0.72
R6975:Pnpla6 UTSW 8 3,588,068 (GRCm39) missense probably damaging 1.00
R7293:Pnpla6 UTSW 8 3,588,068 (GRCm39) missense probably damaging 1.00
R7426:Pnpla6 UTSW 8 3,566,540 (GRCm39) splice site probably null
R7520:Pnpla6 UTSW 8 3,587,508 (GRCm39) missense probably damaging 1.00
R7666:Pnpla6 UTSW 8 3,591,591 (GRCm39) missense probably benign 0.01
R7733:Pnpla6 UTSW 8 3,572,660 (GRCm39) missense probably benign 0.01
R7743:Pnpla6 UTSW 8 3,586,594 (GRCm39) missense possibly damaging 0.77
R7744:Pnpla6 UTSW 8 3,581,677 (GRCm39) missense probably benign 0.38
R7923:Pnpla6 UTSW 8 3,581,737 (GRCm39) nonsense probably null
R7980:Pnpla6 UTSW 8 3,586,562 (GRCm39) missense probably damaging 0.97
R8141:Pnpla6 UTSW 8 3,571,384 (GRCm39) missense probably benign 0.01
R8191:Pnpla6 UTSW 8 3,592,382 (GRCm39) missense probably benign 0.12
R8251:Pnpla6 UTSW 8 3,582,399 (GRCm39) missense probably benign 0.29
R8881:Pnpla6 UTSW 8 3,581,489 (GRCm39) missense probably benign 0.00
R8917:Pnpla6 UTSW 8 3,567,637 (GRCm39) missense possibly damaging 0.50
R8939:Pnpla6 UTSW 8 3,571,319 (GRCm39) missense possibly damaging 0.86
R8988:Pnpla6 UTSW 8 3,567,401 (GRCm39) missense possibly damaging 0.51
R9037:Pnpla6 UTSW 8 3,592,379 (GRCm39) nonsense probably null
R9264:Pnpla6 UTSW 8 3,573,294 (GRCm39) missense probably benign
R9265:Pnpla6 UTSW 8 3,573,294 (GRCm39) missense probably benign
R9386:Pnpla6 UTSW 8 3,571,417 (GRCm39) critical splice donor site probably null
X0018:Pnpla6 UTSW 8 3,567,337 (GRCm39) missense probably damaging 1.00
Z1177:Pnpla6 UTSW 8 3,586,979 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- AGTGACATTTATCAAGCAAGGC -3'
(R):5'- TTATCAGTGCAGTTCTGCCC -3'

Sequencing Primer
(F):5'- AGGCTTGAGATGAAACTAGTTTTGAG -3'
(R):5'- GGCAAGTCAGTCCAGTGTG -3'
Posted On 2019-09-13