Incidental Mutation 'R8283:Pnpla7'
ID 638288
Institutional Source Beutler Lab
Gene Symbol Pnpla7
Ensembl Gene ENSMUSG00000036833
Gene Name patatin-like phospholipase domain containing 7
Synonyms NRE, E430013P11Rik
MMRRC Submission 067706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R8283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 24866045-24944069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24940935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1096 (K1096E)
Ref Sequence ENSEMBL: ENSMUSP00000044078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006646] [ENSMUST00000045295] [ENSMUST00000074422] [ENSMUST00000100334] [ENSMUST00000102931] [ENSMUST00000114386] [ENSMUST00000114388] [ENSMUST00000116574] [ENSMUST00000132172] [ENSMUST00000137913] [ENSMUST00000140737] [ENSMUST00000144520] [ENSMUST00000152122] [ENSMUST00000155601]
AlphaFold A2AJ88
Predicted Effect probably benign
Transcript: ENSMUST00000006646
SMART Domains Protein: ENSMUSP00000006646
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 281 292 N/A INTRINSIC
low complexity region 361 375 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000045295
AA Change: K1096E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: K1096E

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
low complexity region 59 66 N/A INTRINSIC
cNMP 170 295 2.06e-12 SMART
low complexity region 439 444 N/A INTRINSIC
cNMP 481 600 1.16e-6 SMART
cNMP 603 716 1.55e-7 SMART
Pfam:Patatin 950 1116 3.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074422
SMART Domains Protein: ENSMUSP00000074022
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
low complexity region 338 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100334
SMART Domains Protein: ENSMUSP00000097908
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 283 294 N/A INTRINSIC
low complexity region 363 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102931
SMART Domains Protein: ENSMUSP00000099995
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 260 271 N/A INTRINSIC
low complexity region 340 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114386
SMART Domains Protein: ENSMUSP00000110028
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 310 324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114388
SMART Domains Protein: ENSMUSP00000110030
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 331 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116574
SMART Domains Protein: ENSMUSP00000112273
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 260 271 N/A INTRINSIC
low complexity region 340 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132172
SMART Domains Protein: ENSMUSP00000116106
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137913
SMART Domains Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
low complexity region 33 40 N/A INTRINSIC
Pfam:cNMP_binding 162 200 2.7e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140737
SMART Domains Protein: ENSMUSP00000141410
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144520
SMART Domains Protein: ENSMUSP00000141583
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 283 294 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152122
SMART Domains Protein: ENSMUSP00000121580
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Pfam:IQ 62 80 2.5e-4 PFAM
low complexity region 114 125 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155601
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,856,086 (GRCm39) P65S probably damaging Het
Adcy3 A T 12: 4,250,935 (GRCm39) R565W probably damaging Het
Arl14 A T 3: 69,129,868 (GRCm39) N5I probably benign Het
Arl6ip6 A G 2: 53,082,250 (GRCm39) E39G possibly damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Boc A T 16: 44,340,800 (GRCm39) L50Q noncoding transcript Het
Calml3 A G 13: 3,854,097 (GRCm39) V36A probably damaging Het
Ccdc183 G A 2: 25,502,160 (GRCm39) A238V probably damaging Het
Ccndbp1 A G 2: 120,839,065 (GRCm39) probably benign Het
Ccr9 A G 9: 123,608,696 (GRCm39) Y126C probably damaging Het
Cdhr1 T C 14: 36,804,737 (GRCm39) N491S probably benign Het
Celsr2 C T 3: 108,303,771 (GRCm39) G2429D probably damaging Het
Cts6 T C 13: 61,349,457 (GRCm39) T84A probably damaging Het
Dcpp2 T C 17: 24,118,384 (GRCm39) probably null Het
Drosha A G 15: 12,890,587 (GRCm39) I945V possibly damaging Het
Dsg1b A G 18: 20,524,963 (GRCm39) Q133R probably benign Het
Enpp1 T A 10: 24,550,554 (GRCm39) E174D probably benign Het
Esrrb A G 12: 86,468,732 (GRCm39) H15R probably benign Het
Fbxl12 T C 9: 20,550,017 (GRCm39) T213A probably benign Het
Fnbp4 C A 2: 90,577,115 (GRCm39) T149K probably damaging Het
Foxj1 A T 11: 116,224,893 (GRCm39) F158Y probably benign Het
Frrs1 A G 3: 116,671,952 (GRCm39) T17A probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm45844 T C 7: 7,244,901 (GRCm39) Y11C possibly damaging Het
Hnrnpl T C 7: 28,513,697 (GRCm39) V220A Het
Iars2 T A 1: 185,020,288 (GRCm39) R949* probably null Het
Ice1 T C 13: 70,752,549 (GRCm39) E1179G probably damaging Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mcmdc2 A C 1: 10,004,263 (GRCm39) K581T possibly damaging Het
Men1 A T 19: 6,386,848 (GRCm39) D186V probably damaging Het
Morc2b T G 17: 33,355,675 (GRCm39) N699T probably benign Het
Mrgpra2b A G 7: 47,114,465 (GRCm39) L89P probably damaging Het
Naip1 C T 13: 100,563,695 (GRCm39) G490E probably damaging Het
Ntm T C 9: 28,923,508 (GRCm39) Y224C probably damaging Het
Nup88 A T 11: 70,849,166 (GRCm39) D262E probably benign Het
Or10ag52 T C 2: 87,043,683 (GRCm39) V149A probably benign Het
Or51l4 T A 7: 103,404,019 (GRCm39) I258L possibly damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Oscp1 A G 4: 125,980,393 (GRCm39) M293V probably benign Het
Pcdhgc3 C A 18: 37,940,694 (GRCm39) A365D probably damaging Het
Pcyt2 A T 11: 120,501,548 (GRCm39) F388I probably benign Het
Pgm2l1 C G 7: 99,902,460 (GRCm39) A136G probably benign Het
Phf14 T G 6: 11,987,636 (GRCm39) D638E probably benign Het
Prkcb T A 7: 122,199,948 (GRCm39) C586* probably null Het
Rnf187 T A 11: 58,829,241 (GRCm39) R124W probably damaging Het
Sema3a T C 5: 13,450,030 (GRCm39) Y36H probably damaging Het
Setd7 T G 3: 51,428,796 (GRCm39) S345R probably benign Het
Sgms1 T C 19: 32,137,035 (GRCm39) D177G probably damaging Het
Snx19 T C 9: 30,374,522 (GRCm39) L927S possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sorl1 T C 9: 41,942,294 (GRCm39) D977G probably damaging Het
Sptan1 C T 2: 29,870,212 (GRCm39) R121W probably damaging Het
Srgap2 T C 1: 131,291,771 (GRCm39) D152G probably damaging Het
Suclg2 T A 6: 95,474,700 (GRCm39) probably null Het
Tacc2 T C 7: 130,227,034 (GRCm39) S1240P probably benign Het
Tbc1d12 C T 19: 38,825,353 (GRCm39) A68V probably benign Het
Tex14 G A 11: 87,365,241 (GRCm39) D62N probably damaging Het
Thyn1 C T 9: 26,918,155 (GRCm39) T181I probably benign Het
Trio T A 15: 27,756,628 (GRCm39) H2056L possibly damaging Het
Ubn2 T A 6: 38,475,663 (GRCm39) L1207Q probably damaging Het
Usp17lb T C 7: 104,490,013 (GRCm39) S305G probably damaging Het
Vmn2r101 T A 17: 19,832,253 (GRCm39) Y750N probably damaging Het
Wif1 G A 10: 120,931,952 (GRCm39) S292N probably benign Het
Xpo6 T G 7: 125,727,421 (GRCm39) Q528H possibly damaging Het
Other mutations in Pnpla7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Pnpla7 APN 2 24,866,327 (GRCm39) critical splice donor site probably null
IGL00765:Pnpla7 APN 2 24,870,236 (GRCm39) missense probably damaging 0.98
IGL01576:Pnpla7 APN 2 24,906,575 (GRCm39) missense probably damaging 1.00
IGL01626:Pnpla7 APN 2 24,940,905 (GRCm39) missense possibly damaging 0.58
IGL01844:Pnpla7 APN 2 24,940,985 (GRCm39) critical splice donor site probably null
IGL02280:Pnpla7 APN 2 24,901,589 (GRCm39) missense probably benign 0.00
IGL02629:Pnpla7 APN 2 24,940,957 (GRCm39) missense probably damaging 1.00
IGL02642:Pnpla7 APN 2 24,940,288 (GRCm39) missense probably benign 0.24
IGL02931:Pnpla7 APN 2 24,905,241 (GRCm39) missense possibly damaging 0.87
IGL03162:Pnpla7 APN 2 24,905,301 (GRCm39) unclassified probably benign
PIT4495001:Pnpla7 UTSW 2 24,932,151 (GRCm39) missense probably damaging 0.99
R0047:Pnpla7 UTSW 2 24,901,618 (GRCm39) missense probably damaging 1.00
R0047:Pnpla7 UTSW 2 24,901,618 (GRCm39) missense probably damaging 1.00
R0064:Pnpla7 UTSW 2 24,887,239 (GRCm39) nonsense probably null
R0064:Pnpla7 UTSW 2 24,887,239 (GRCm39) nonsense probably null
R0309:Pnpla7 UTSW 2 24,877,207 (GRCm39) missense probably damaging 1.00
R0541:Pnpla7 UTSW 2 24,885,305 (GRCm39) missense probably damaging 0.99
R0556:Pnpla7 UTSW 2 24,942,313 (GRCm39) splice site probably null
R0565:Pnpla7 UTSW 2 24,870,129 (GRCm39) splice site probably benign
R0830:Pnpla7 UTSW 2 24,887,267 (GRCm39) missense probably damaging 1.00
R0865:Pnpla7 UTSW 2 24,872,135 (GRCm39) missense probably benign 0.34
R0893:Pnpla7 UTSW 2 24,887,252 (GRCm39) missense probably damaging 1.00
R0969:Pnpla7 UTSW 2 24,940,965 (GRCm39) missense probably damaging 1.00
R1102:Pnpla7 UTSW 2 24,886,177 (GRCm39) missense probably damaging 1.00
R1551:Pnpla7 UTSW 2 24,937,720 (GRCm39) missense probably benign 0.01
R1572:Pnpla7 UTSW 2 24,905,263 (GRCm39) missense possibly damaging 0.69
R1623:Pnpla7 UTSW 2 24,942,611 (GRCm39) missense probably damaging 1.00
R1876:Pnpla7 UTSW 2 24,930,985 (GRCm39) missense possibly damaging 0.91
R1898:Pnpla7 UTSW 2 24,943,796 (GRCm39) unclassified probably benign
R1909:Pnpla7 UTSW 2 24,887,300 (GRCm39) missense possibly damaging 0.75
R1973:Pnpla7 UTSW 2 24,906,629 (GRCm39) missense probably damaging 1.00
R2230:Pnpla7 UTSW 2 24,941,610 (GRCm39) unclassified probably benign
R2381:Pnpla7 UTSW 2 24,870,770 (GRCm39) missense probably damaging 1.00
R2655:Pnpla7 UTSW 2 24,942,330 (GRCm39) missense probably damaging 1.00
R3125:Pnpla7 UTSW 2 24,932,150 (GRCm39) missense probably damaging 1.00
R4223:Pnpla7 UTSW 2 24,872,126 (GRCm39) missense possibly damaging 0.69
R4411:Pnpla7 UTSW 2 24,941,716 (GRCm39) nonsense probably null
R4573:Pnpla7 UTSW 2 24,940,885 (GRCm39) missense probably damaging 0.98
R4674:Pnpla7 UTSW 2 24,942,329 (GRCm39) missense probably damaging 1.00
R4841:Pnpla7 UTSW 2 24,870,064 (GRCm39) missense probably benign 0.05
R4842:Pnpla7 UTSW 2 24,870,064 (GRCm39) missense probably benign 0.05
R4893:Pnpla7 UTSW 2 24,943,688 (GRCm39) nonsense probably null
R4941:Pnpla7 UTSW 2 24,887,276 (GRCm39) splice site probably null
R5116:Pnpla7 UTSW 2 24,911,982 (GRCm39) missense probably damaging 0.97
R5126:Pnpla7 UTSW 2 24,870,056 (GRCm39) missense possibly damaging 0.83
R5138:Pnpla7 UTSW 2 24,931,115 (GRCm39) missense possibly damaging 0.88
R5169:Pnpla7 UTSW 2 24,940,321 (GRCm39) missense probably benign 0.03
R5188:Pnpla7 UTSW 2 24,887,312 (GRCm39) missense probably benign 0.06
R5288:Pnpla7 UTSW 2 24,931,031 (GRCm39) missense probably damaging 0.97
R5307:Pnpla7 UTSW 2 24,911,964 (GRCm39) missense possibly damaging 0.81
R5339:Pnpla7 UTSW 2 24,892,949 (GRCm39) missense probably benign 0.10
R5384:Pnpla7 UTSW 2 24,931,031 (GRCm39) missense probably damaging 0.97
R5385:Pnpla7 UTSW 2 24,931,031 (GRCm39) missense probably damaging 0.97
R5479:Pnpla7 UTSW 2 24,909,453 (GRCm39) missense possibly damaging 0.90
R5640:Pnpla7 UTSW 2 24,893,013 (GRCm39) missense possibly damaging 0.92
R5662:Pnpla7 UTSW 2 24,942,396 (GRCm39) missense probably damaging 1.00
R5751:Pnpla7 UTSW 2 24,871,790 (GRCm39) missense probably damaging 0.97
R5874:Pnpla7 UTSW 2 24,901,661 (GRCm39) missense probably benign
R6284:Pnpla7 UTSW 2 24,906,630 (GRCm39) missense possibly damaging 0.79
R6351:Pnpla7 UTSW 2 24,901,576 (GRCm39) missense probably damaging 0.97
R6513:Pnpla7 UTSW 2 24,906,550 (GRCm39) missense possibly damaging 0.62
R7193:Pnpla7 UTSW 2 24,941,627 (GRCm39) missense probably damaging 1.00
R7503:Pnpla7 UTSW 2 24,873,544 (GRCm39) nonsense probably null
R7526:Pnpla7 UTSW 2 24,888,678 (GRCm39) missense possibly damaging 0.52
R7791:Pnpla7 UTSW 2 24,942,078 (GRCm39) missense probably damaging 1.00
R8262:Pnpla7 UTSW 2 24,873,635 (GRCm39) missense probably damaging 1.00
R8993:Pnpla7 UTSW 2 24,943,431 (GRCm39) missense possibly damaging 0.68
R9086:Pnpla7 UTSW 2 24,929,709 (GRCm39) missense probably damaging 1.00
R9229:Pnpla7 UTSW 2 24,873,503 (GRCm39) missense probably damaging 0.98
R9494:Pnpla7 UTSW 2 24,942,390 (GRCm39) nonsense probably null
R9651:Pnpla7 UTSW 2 24,892,931 (GRCm39) missense probably benign 0.02
Z1177:Pnpla7 UTSW 2 24,888,771 (GRCm39) missense probably null 0.06
Predicted Primers PCR Primer
(F):5'- TGAGCTTTGAGACTGACAGAGC -3'
(R):5'- TCACATGTGTTCTCTAGCAACTG -3'

Sequencing Primer
(F):5'- CTTTGAGACTGACAGAGCTAAGTGC -3'
(R):5'- TTGGCATACTCCAAGGAAAACGTG -3'
Posted On 2020-07-28