Incidental Mutation 'IGL02642:Pnpla7'
ID 301749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpla7
Ensembl Gene ENSMUSG00000036833
Gene Name patatin-like phospholipase domain containing 7
Synonyms NRE, E430013P11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02642
Quality Score
Status
Chromosome 2
Chromosomal Location 24866045-24944069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24940288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1056 (F1056L)
Ref Sequence ENSEMBL: ENSMUSP00000044078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006646] [ENSMUST00000045295] [ENSMUST00000074422] [ENSMUST00000100334] [ENSMUST00000102931] [ENSMUST00000114386] [ENSMUST00000114388] [ENSMUST00000137913] [ENSMUST00000132172] [ENSMUST00000116574] [ENSMUST00000155601] [ENSMUST00000144520] [ENSMUST00000152122] [ENSMUST00000140737]
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 benign
Transcript: ENSMUST00000045295
AA Change: F1056L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: F1056L

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: ENSMUST00000154359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141584
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: 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: ENSMUST00000155601
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: ENSMUST00000140737
SMART Domains Protein: ENSMUSP00000141410
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175104
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,644,720 (GRCm39) D68G probably damaging Het
Amer3 A G 1: 34,625,761 (GRCm39) probably benign Het
Ankrd11 A G 8: 123,617,390 (GRCm39) L2133P probably damaging Het
Bcdin3d G T 15: 99,368,673 (GRCm39) H175Q probably damaging Het
Brd8 C A 18: 34,741,117 (GRCm39) probably benign Het
C1rl C A 6: 124,470,806 (GRCm39) T38N possibly damaging Het
Cd160 T C 3: 96,707,927 (GRCm39) T140A probably benign Het
Cdk16 T G X: 20,563,167 (GRCm39) D381E probably benign Het
Cpq G A 15: 33,381,546 (GRCm39) G303D probably damaging Het
Dmp1 T C 5: 104,359,536 (GRCm39) S71P probably damaging Het
Enc1 A C 13: 97,382,042 (GRCm39) D184A possibly damaging Het
Enkur T C 2: 21,199,198 (GRCm39) D112G probably benign Het
Esrra A T 19: 6,890,218 (GRCm39) V59E possibly damaging Het
F830016B08Rik A G 18: 60,433,058 (GRCm39) N47S probably benign Het
Fads1 T A 19: 10,163,785 (GRCm39) V189D probably damaging Het
Fam167a T A 14: 63,689,721 (GRCm39) I6N probably damaging Het
Fam98b A G 2: 117,090,793 (GRCm39) T164A probably benign Het
Fhip2a A G 19: 57,373,782 (GRCm39) N681D possibly damaging Het
Fryl T A 5: 73,252,809 (GRCm39) I953L probably benign Het
Gm10610 T A 7: 83,198,813 (GRCm39) noncoding transcript Het
Grik5 G T 7: 24,758,408 (GRCm39) N338K possibly damaging Het
Gstt2 A G 10: 75,668,652 (GRCm39) I72T probably benign Het
Gusb T C 5: 130,029,376 (GRCm39) probably null Het
Hccs A G X: 168,098,588 (GRCm39) probably benign Het
Hoxb4 A G 11: 96,211,050 (GRCm39) K217E probably damaging Het
Hpd C T 5: 123,319,503 (GRCm39) V22I possibly damaging Het
Ighv1-47 A G 12: 114,954,844 (GRCm39) Y79H probably damaging Het
Il7r C A 15: 9,513,133 (GRCm39) probably benign Het
Lama1 A T 17: 68,119,361 (GRCm39) M2613L probably benign Het
Lama2 G A 10: 27,343,269 (GRCm39) H68Y probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,158,113 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,057,322 (GRCm39) probably null Het
Mri1 A T 8: 84,983,702 (GRCm39) L63Q probably damaging Het
Mrps11 G T 7: 78,438,522 (GRCm39) probably null Het
Mtif2 C A 11: 29,494,395 (GRCm39) Q666K probably benign Het
Mtr A T 13: 12,210,118 (GRCm39) probably benign Het
Mug1 A G 6: 121,859,544 (GRCm39) N1181S probably benign Het
Myom1 A T 17: 71,408,093 (GRCm39) E1209V possibly damaging Het
Nhsl1 A G 10: 18,284,138 (GRCm39) I26M possibly damaging Het
Nlrp1a T A 11: 71,014,358 (GRCm39) K297N probably benign Het
Obox5 T C 7: 15,491,972 (GRCm39) V129A probably benign Het
Pex16 C T 2: 92,206,981 (GRCm39) A53V probably damaging Het
Pfpl T C 19: 12,407,107 (GRCm39) F453L probably damaging Het
Pip5k1b G T 19: 24,323,731 (GRCm39) H406N probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plcxd3 T C 15: 4,546,122 (GRCm39) F42S possibly damaging Het
Rapgef1 T C 2: 29,590,872 (GRCm39) probably benign Het
Rdh11 G A 12: 79,232,110 (GRCm39) probably benign Het
Serac1 A G 17: 6,096,021 (GRCm39) F576S possibly damaging Het
Slc45a4 A T 15: 73,458,664 (GRCm39) M295K probably benign Het
Taf1c T C 8: 120,325,796 (GRCm39) T689A probably benign Het
Timm10b G T 7: 105,317,645 (GRCm39) probably benign Het
Tle5 A T 10: 81,397,126 (GRCm39) Q34L possibly damaging Het
Tnc A T 4: 63,883,816 (GRCm39) probably benign Het
Toporsl T C 4: 52,611,114 (GRCm39) W336R probably benign Het
Usp54 C A 14: 20,615,140 (GRCm39) probably benign Het
Vmn1r233 T C 17: 21,214,291 (GRCm39) R220G probably 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
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
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
Posted On 2015-04-16