Incidental Mutation 'R1898:Pnpla7'
ID 212102
Institutional Source Beutler Lab
Gene Symbol Pnpla7
Ensembl Gene ENSMUSG00000036833
Gene Name patatin-like phospholipase domain containing 7
Synonyms NRE, E430013P11Rik
MMRRC Submission 039918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1898 (G1)
Quality Score 221
Status Not validated
Chromosome 2
Chromosomal Location 24866045-24944069 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 24943796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006646] [ENSMUST00000045295] [ENSMUST00000074422] [ENSMUST00000100334] [ENSMUST00000102931] [ENSMUST00000114386] [ENSMUST00000114388] [ENSMUST00000152122] [ENSMUST00000116574] [ENSMUST00000137913] [ENSMUST00000132172] [ENSMUST00000144520] [ENSMUST00000140737] [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 unknown
Transcript: ENSMUST00000045295
AA Change: H1350Q
SMART Domains Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: H1350Q

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 noncoding transcript
Transcript: ENSMUST00000132082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141866
Predicted Effect probably benign
Transcript: ENSMUST00000134744
SMART Domains Protein: ENSMUSP00000120376
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 113 127 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: 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: 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: ENSMUST00000132172
SMART Domains Protein: ENSMUSP00000116106
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: ENSMUST00000140737
SMART Domains Protein: ENSMUSP00000141410
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175104
Predicted Effect probably benign
Transcript: ENSMUST00000155601
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C A 4: 53,071,977 (GRCm39) R1195L probably benign Het
Abca14 A G 7: 119,850,392 (GRCm39) Y748C probably damaging Het
Abca6 A G 11: 110,099,625 (GRCm39) F974S probably damaging Het
Acyp1 T C 12: 85,335,114 (GRCm39) K2E probably benign Het
Ahcy T A 2: 154,904,173 (GRCm39) S355C probably benign Het
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ankrd36 T C 11: 5,525,683 (GRCm39) I215T probably benign Het
Aox1 C T 1: 58,117,601 (GRCm39) R828C probably damaging Het
Atp1a4 T A 1: 172,062,615 (GRCm39) I631F probably damaging Het
Brd10 T C 19: 29,712,532 (GRCm39) N789S possibly damaging Het
Brinp3 T G 1: 146,776,987 (GRCm39) V478G possibly damaging Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Celf2 C T 2: 6,608,975 (GRCm39) V95M probably damaging Het
Chka A T 19: 3,942,205 (GRCm39) E404D probably damaging Het
Clec5a A C 6: 40,558,870 (GRCm39) V72G probably benign Het
Cnn1 T C 9: 22,012,560 (GRCm39) probably null Het
Coq6 A G 12: 84,413,737 (GRCm39) E89G probably benign Het
Cpne6 A T 14: 55,754,485 (GRCm39) I538F possibly damaging Het
Crx G A 7: 15,602,148 (GRCm39) P177S probably damaging Het
Cysltr2 G T 14: 73,266,973 (GRCm39) P246T probably damaging Het
Decr1 A G 4: 15,929,801 (GRCm39) I164T probably damaging Het
Dmtf1 A T 5: 9,178,091 (GRCm39) V315E probably damaging Het
Dnah7b A G 1: 46,275,874 (GRCm39) N2587S probably benign Het
E2f6 C A 12: 16,874,581 (GRCm39) T221K probably benign Het
Fat3 T G 9: 15,871,426 (GRCm39) D3655A probably damaging Het
Fbxw28 G A 9: 109,152,452 (GRCm39) T384I probably benign Het
Fes T A 7: 80,029,659 (GRCm39) I608F probably damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Gabrb2 A G 11: 42,484,659 (GRCm39) K239E possibly damaging Het
Gen1 T C 12: 11,291,609 (GRCm39) R727G probably benign Het
Glb1 T A 9: 114,253,103 (GRCm39) V184E probably damaging Het
Gngt1 A T 6: 3,996,724 (GRCm39) I57F possibly damaging Het
Ice1 T C 13: 70,750,426 (GRCm39) I87V possibly damaging Het
Itih1 A G 14: 30,654,244 (GRCm39) Y674H probably benign Het
Itsn1 T A 16: 91,696,468 (GRCm39) C24S probably damaging Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Myh10 A G 11: 68,662,732 (GRCm39) N595S probably damaging Het
Myo5c C T 9: 75,204,908 (GRCm39) T1587I probably damaging Het
Npat T A 9: 53,474,937 (GRCm39) F910I probably damaging Het
Nradd T C 9: 110,450,676 (GRCm39) Y167C probably damaging Het
Nt5dc1 T C 10: 34,189,631 (GRCm39) E352G probably benign Het
Numa1 T C 7: 101,641,927 (GRCm39) probably null Het
Odc1 T A 12: 17,598,842 (GRCm39) S241T probably damaging Het
Or11g2 A T 14: 50,856,231 (GRCm39) D184V probably damaging Het
Or14j7 A T 17: 38,234,516 (GRCm39) N20Y possibly damaging Het
Pcnx3 T C 19: 5,722,615 (GRCm39) D951G probably damaging Het
Pigg T C 5: 108,484,408 (GRCm39) F685L probably benign Het
Pramel16 C T 4: 143,677,298 (GRCm39) V94M probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rp1l1 A T 14: 64,269,039 (GRCm39) T1542S probably benign Het
Sct A T 7: 140,858,761 (GRCm39) L57Q probably damaging Het
Serpinb3b T C 1: 107,082,317 (GRCm39) S316G possibly damaging Het
Shprh T C 10: 11,062,613 (GRCm39) L1240S probably damaging Het
Slc4a1 C T 11: 102,241,133 (GRCm39) E924K probably damaging Het
Sp7 A T 15: 102,267,453 (GRCm39) Y118N possibly damaging Het
Srebf2 A G 15: 82,087,936 (GRCm39) T219A probably damaging Het
Tenm3 G T 8: 48,763,796 (GRCm39) P753T probably damaging Het
Tonsl A T 15: 76,523,053 (GRCm39) probably null Het
Trio A T 15: 27,742,466 (GRCm39) S2675T possibly damaging Het
Tspan12 T C 6: 21,795,693 (GRCm39) T166A probably damaging Het
Ttll4 A G 1: 74,736,641 (GRCm39) D1122G probably benign Het
Vmn1r77 G A 7: 11,775,550 (GRCm39) A41T probably damaging Het
Xpo7 A T 14: 70,933,064 (GRCm39) F276Y probably benign Het
Zdhhc1 A T 8: 106,205,378 (GRCm39) probably null Het
Zfp319 C A 8: 96,055,417 (GRCm39) C262F probably damaging Het
Zfp442 C T 2: 150,250,582 (GRCm39) C383Y probably damaging Het
Zfp57 G T 17: 37,320,650 (GRCm39) R168L 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
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
R8283:Pnpla7 UTSW 2 24,940,935 (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'- TGGTTTTCCCACTCCAGGTG -3'
(R):5'- AGTACTGCTGTGGGGATACAAG -3'

Sequencing Primer
(F):5'- ACTCCAGGTGATACAGTCTGG -3'
(R):5'- CTGTGGGGATACAAGGGTGCC -3'
Posted On 2014-06-30