Incidental Mutation 'R4893:Pnpla7'
ID 377373
Institutional Source Beutler Lab
Gene Symbol Pnpla7
Ensembl Gene ENSMUSG00000036833
Gene Name patatin-like phospholipase domain containing 7
Synonyms NRE, E430013P11Rik
MMRRC Submission 042498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R4893 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 24866045-24944069 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 24943688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1314 (Y1314*)
Ref Sequence ENSEMBL: ENSMUSP00000044078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006646] [ENSMUST00000045295] [ENSMUST00000074422] [ENSMUST00000100334] [ENSMUST00000102931] [ENSMUST00000114386] [ENSMUST00000114388] [ENSMUST00000152122] [ENSMUST00000137913] [ENSMUST00000116574] [ENSMUST00000140737] [ENSMUST00000132172] [ENSMUST00000144520] [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 null
Transcript: ENSMUST00000045295
AA Change: Y1314*
SMART Domains Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: Y1314*

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: ENSMUST00000141584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128517
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: 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: 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: 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: ENSMUST00000140737
SMART Domains Protein: ENSMUSP00000141410
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 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: 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 noncoding transcript
Transcript: ENSMUST00000155909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154359
Predicted Effect probably benign
Transcript: ENSMUST00000155601
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,904 (GRCm39) I401T probably damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Acss1 C A 2: 150,471,786 (GRCm39) V323F probably damaging Het
Adgrf3 T G 5: 30,405,476 (GRCm39) D286A probably benign Het
Akap5 T C 12: 76,376,743 (GRCm39) V718A probably damaging Het
Ankk1 A G 9: 49,326,983 (GRCm39) V732A probably benign Het
Antxr2 T A 5: 98,151,931 (GRCm39) D180V probably damaging Het
Arfgef2 T G 2: 166,708,876 (GRCm39) F1063V probably benign Het
Ascl5 A T 1: 135,978,917 (GRCm39) I126F probably damaging Het
Aspm T A 1: 139,417,577 (GRCm39) probably null Het
Atf6b T C 17: 34,867,586 (GRCm39) S100P probably damaging Het
Baz2a C A 10: 127,959,284 (GRCm39) H1266Q possibly damaging Het
Cdh4 A T 2: 179,489,212 (GRCm39) probably benign Het
Celsr3 C G 9: 108,726,620 (GRCm39) S3283C probably damaging Het
Clca4b C T 3: 144,630,934 (GRCm39) V309M possibly damaging Het
Cnbd2 T C 2: 156,207,104 (GRCm39) Y436H probably damaging Het
Csnk1a1 T C 18: 61,718,372 (GRCm39) probably benign Het
Cstf1 C T 2: 172,222,444 (GRCm39) R401C probably damaging Het
Cul3 A G 1: 80,266,567 (GRCm39) I117T probably damaging Het
Dlgap3 A G 4: 127,088,776 (GRCm39) D124G probably damaging Het
Dnah12 A G 14: 26,431,325 (GRCm39) D381G possibly damaging Het
Dtna T C 18: 23,702,724 (GRCm39) L85P probably damaging Het
Ephb2 A G 4: 136,387,064 (GRCm39) I722T probably damaging Het
Epn3 A T 11: 94,382,822 (GRCm39) F421I probably damaging Het
Fam83f T A 15: 80,576,156 (GRCm39) L269H probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Gata4 G A 14: 63,439,045 (GRCm39) A139V probably benign Het
Glce T C 9: 61,975,777 (GRCm39) D241G probably benign Het
Gm17728 A T 17: 9,641,063 (GRCm39) I58F probably benign Het
Inhba A T 13: 16,201,134 (GRCm39) D232V possibly damaging Het
Itgb2l C A 16: 96,229,021 (GRCm39) R394L probably benign Het
Klhl14 T C 18: 21,690,992 (GRCm39) Y486C probably damaging Het
Krt1 A G 15: 101,758,555 (GRCm39) I203T probably damaging Het
Lims2 T C 18: 32,074,864 (GRCm39) probably null Het
Lrrc31 T G 3: 30,733,446 (GRCm39) I423L probably benign Het
Map7d1 C T 4: 126,127,015 (GRCm39) D732N unknown Het
Mau2 A T 8: 70,483,290 (GRCm39) probably null Het
Mbtps1 G A 8: 120,244,932 (GRCm39) R840W probably damaging Het
Morn3 T C 5: 123,175,745 (GRCm39) I214M probably damaging Het
Mrpl44 A G 1: 79,755,582 (GRCm39) K63E probably damaging Het
Muc20 T C 16: 32,615,042 (GRCm39) T112A possibly damaging Het
Myo6 T A 9: 80,136,159 (GRCm39) L94Q probably damaging Het
Nos1 C A 5: 118,090,942 (GRCm39) T1423K possibly damaging Het
Or2l13 A G 16: 19,305,653 (GRCm39) T22A probably benign Het
Or2t1 T C 14: 14,328,852 (GRCm38) V247A probably damaging Het
Pdzd2 T C 15: 12,385,429 (GRCm39) T1114A probably benign Het
Pgm2 T C 5: 64,263,283 (GRCm39) V310A probably benign Het
Pi4ka T C 16: 17,194,900 (GRCm39) E166G probably benign Het
Pign A T 1: 105,574,436 (GRCm39) D303E probably damaging Het
Pik3c3 G T 18: 30,415,053 (GRCm39) V149L probably benign Het
Pkd1l3 A T 8: 110,365,026 (GRCm39) Y1126F probably benign Het
Pkd2l1 T A 19: 44,142,210 (GRCm39) Q516L probably benign Het
Pnliprp2 C A 19: 58,759,853 (GRCm39) Q355K probably benign Het
Ppp1r1b A G 11: 98,246,170 (GRCm39) T51A possibly damaging Het
Prkcd A T 14: 30,321,382 (GRCm39) S544T probably damaging Het
Pusl1 G A 4: 155,973,998 (GRCm39) T252I probably benign Het
Rnf44 A G 13: 54,829,745 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,145 (GRCm39) V303E probably damaging Het
Slc28a2 T A 2: 122,285,697 (GRCm39) probably null Het
Sox8 T C 17: 25,787,963 (GRCm39) D162G probably damaging Het
Spag1 T C 15: 36,197,992 (GRCm39) probably null Het
Taar6 T C 10: 23,861,298 (GRCm39) I83V probably benign Het
Tes T A 6: 17,104,595 (GRCm39) C359S probably damaging Het
Vmn2r4 A T 3: 64,313,676 (GRCm39) L435H probably damaging Het
Zfhx3 G T 8: 109,683,639 (GRCm39) D3693Y unknown Het
Zfp931 G A 2: 177,709,996 (GRCm39) P130L probably damaging Het
Zfr T G 15: 12,136,628 (GRCm39) V95G unknown Het
Zw10 A G 9: 48,985,325 (GRCm39) E587G 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
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'- ATGCTGACTTCCAGAGCACTG -3'
(R):5'- TAAGGAATGGGTGCAGCCTC -3'

Sequencing Primer
(F):5'- CACTGGGATTGAGCTAGACTCTGAC -3'
(R):5'- ATGGGTGCAGCCTCAGTCTAAG -3'
Posted On 2016-03-17