Incidental Mutation 'RF020:Parp4'
ID 603834
Institutional Source Beutler Lab
Gene Symbol Parp4
Ensembl Gene ENSMUSG00000054509
Gene Name poly (ADP-ribose) polymerase family, member 4
Synonyms VPARP, Adprtl1, C030027K23Rik, VAULT3, p193, PH5P, E230037B21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # RF020 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56813076-56897251 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56884806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1295 (L1295P)
Ref Sequence ENSEMBL: ENSMUSP00000124258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161553]
AlphaFold E9PYK3
Predicted Effect unknown
Transcript: ENSMUST00000161553
AA Change: L1295P
SMART Domains Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: L1295P

DomainStartEndE-ValueType
BRCT 3 84 4.32e-9 SMART
low complexity region 97 104 N/A INTRINSIC
SCOP:d1a26_1 252 352 2e-19 SMART
Pfam:PARP 371 559 1.8e-50 PFAM
VIT 600 728 1.5e-57 SMART
VWA 867 1030 6.08e-13 SMART
Blast:14_3_3 1149 1205 5e-10 BLAST
low complexity region 1255 1264 N/A INTRINSIC
low complexity region 1348 1362 N/A INTRINSIC
low complexity region 1371 1394 N/A INTRINSIC
internal_repeat_1 1395 1416 4.48e-6 PROSPERO
Pfam:Drf_FH1 1443 1542 3.3e-15 PFAM
low complexity region 1553 1587 N/A INTRINSIC
internal_repeat_2 1588 1608 2.45e-5 PROSPERO
low complexity region 1695 1708 N/A INTRINSIC
low complexity region 1739 1750 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are helathy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,880 (GRCm39) K1270E possibly damaging Het
Adgrb2 T C 4: 129,903,877 (GRCm39) S668P probably damaging Het
Ahdc1 T G 4: 132,791,588 (GRCm39) L943R possibly damaging Het
Ank2 T C 3: 126,739,125 (GRCm39) K2253R unknown Het
Arhgap23 T C 11: 97,354,387 (GRCm39) S767P probably damaging Het
Arhgef12 A G 9: 42,901,285 (GRCm39) I839T possibly damaging Het
Begain CGCCGC CGCCGCGGCCGC 12: 108,999,350 (GRCm39) probably benign Het
Btbd19 A T 4: 116,979,472 (GRCm39) C116S probably damaging Het
Cbr1 C T 16: 93,407,067 (GRCm39) A261V probably benign Het
Ccdc137 A G 11: 120,349,022 (GRCm39) R18G probably benign Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,865,876 (GRCm39) probably benign Het
Celsr3 C T 9: 108,726,256 (GRCm39) R3162C probably benign Het
Cep350 A T 1: 155,791,224 (GRCm39) V1300E probably benign Het
Cluh G GCCAGAT 11: 74,560,364 (GRCm39) probably benign Het
Cmya5 G T 13: 93,205,799 (GRCm39) Q3357K possibly damaging Het
Col6a2 T G 10: 76,442,043 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,465,889 (GRCm39) T315S probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dnah6 T A 6: 73,095,040 (GRCm39) Y2181F probably benign Het
Dnah7b A G 1: 46,412,421 (GRCm39) D4010G possibly damaging Het
E4f1 CCG CCGACG 17: 24,674,169 (GRCm39) probably benign Het
Ep300 A T 15: 81,470,772 (GRCm39) probably benign Het
Fam234a A G 17: 26,437,725 (GRCm39) V90A probably benign Het
Gab3 TCT TCTGCT X: 74,043,623 (GRCm39) probably benign Het
Gal3st1 A G 11: 3,948,153 (GRCm39) Y120C possibly damaging Het
Garin5a GGA GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA 7: 44,149,959 (GRCm39) probably null Het
Gm5475 GTGGAAGGAAAGGT G 15: 100,325,030 (GRCm39) probably null Het
Gm6665 T TC 18: 31,953,430 (GRCm39) probably null Het
Hdlbp T C 1: 93,368,456 (GRCm39) T8A probably benign Het
Hnrnpa2b1 T A 6: 51,443,674 (GRCm39) K92N probably damaging Het
Hsdl2 GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,640 (GRCm39) probably benign Het
Klhl10 C G 11: 100,332,896 (GRCm39) Q14E probably benign Het
Klra2 GAAAGAAATCCA GAAAGAAATCCAAAGAAATCCA 6: 131,198,801 (GRCm39) probably null Het
Kmt2b CC CCTCCTGC 7: 30,285,807 (GRCm39) probably benign Het
Krt1c A G 15: 101,726,403 (GRCm39) I45T unknown Het
Ksr2 T C 5: 117,693,283 (GRCm39) S244P probably benign Het
Lama5 A T 2: 179,837,971 (GRCm39) M915K probably benign Het
Lrp1b A C 2: 41,660,858 (GRCm39) H197Q Het
Lrrc1 T C 9: 77,359,913 (GRCm39) E293G probably damaging Het
Med12l AACA AACAACA 3: 59,183,379 (GRCm39) probably benign Het
Mgam T A 6: 40,662,243 (GRCm39) Y1179N probably damaging Het
Mgat4c A G 10: 102,224,928 (GRCm39) I381V probably benign Het
Mrgprx1 A AGAC 7: 47,671,259 (GRCm39) probably benign Het
Myc A T 15: 61,857,672 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,418 (GRCm39) S401P probably damaging Het
Nlrp9c A T 7: 26,084,649 (GRCm39) I310N probably benign Het
Nwd2 C A 5: 63,963,066 (GRCm39) Y883* probably null Het
Oas1e T A 5: 120,932,383 (GRCm39) T87S possibly damaging Het
Or10n7-ps1 GA GATACA 9: 39,598,049 (GRCm39) probably null Het
Or51a5 A T 7: 102,771,098 (GRCm39) C294S probably benign Het
Or52d3 A G 7: 104,229,497 (GRCm39) M215V probably benign Het
Or8b38 G A 9: 37,972,620 (GRCm39) M1I probably null Het
Pappa T G 4: 65,123,282 (GRCm39) S872R possibly damaging Het
Pcdh15 A T 10: 74,021,242 (GRCm39) Y152F probably damaging Het
Pdk1 A T 2: 71,714,240 (GRCm39) I217L possibly damaging Het
Phldb1 A C 9: 44,609,243 (GRCm39) C450W probably damaging Het
Pnma8a C CCATGATGCACCTGCTTCAACATCA 7: 16,695,376 (GRCm39) probably benign Het
Prl2c5 G A 13: 13,360,497 (GRCm39) G55S probably benign Het
Psme2b A T 11: 48,836,397 (GRCm39) H183Q probably damaging Het
Ptms CCTCCTC CCTCCTCCTC 6: 124,891,412 (GRCm39) probably benign Het
Rln3 T C 8: 84,769,931 (GRCm39) T73A probably benign Het
Rprd1a T A 18: 24,663,062 (GRCm39) Q21L probably damaging Het
Septin3 A T 15: 82,168,662 (GRCm39) D155V probably damaging Het
Sh3rf3 T A 10: 58,649,590 (GRCm39) V65E probably damaging Het
Shank3 A G 15: 89,384,593 (GRCm39) N155S probably benign Het
Shox2 G T 3: 66,881,146 (GRCm39) P278Q probably damaging Het
Slc1a1 T C 19: 28,856,555 (GRCm39) probably null Het
Slc39a10 A T 1: 46,849,175 (GRCm39) F814I probably damaging Het
Slc5a1 T C 5: 33,290,773 (GRCm39) I119T probably damaging Het
Slc6a13 T C 6: 121,301,310 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCAAGGC CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC 5: 77,164,247 (GRCm39) probably benign Het
Spta1 A G 1: 174,041,010 (GRCm39) D1270G probably benign Het
Spta1 T A 1: 174,045,469 (GRCm39) F1542L probably damaging Het
Tacc3 T A 5: 33,818,568 (GRCm39) M1K probably null Het
Tax1bp1 T C 6: 52,698,339 (GRCm39) V17A probably damaging Het
Tmem156 T A 5: 65,248,890 (GRCm39) E3D probably benign Het
Tmem209 T A 6: 30,487,417 (GRCm39) M530L probably benign Het
Trpc2 A G 7: 101,745,433 (GRCm39) D883G unknown Het
Tsen34 GGAGCCAAAAT G 7: 3,698,795 (GRCm39) probably null Het
Uhrf2 T C 19: 30,063,791 (GRCm39) Y585H probably damaging Het
Vmn1r26 T A 6: 57,985,705 (GRCm39) K161N probably benign Het
Vmn1r29 A G 6: 58,284,528 (GRCm39) S83G probably benign Het
Vps13b G T 15: 35,925,552 (GRCm39) W3829L probably null Het
Vwce G A 19: 10,630,449 (GRCm39) G503R probably damaging Het
Zc3h11a T C 1: 133,554,735 (GRCm39) E415G possibly damaging Het
Zc3h14 T A 12: 98,746,541 (GRCm39) probably null Het
Zfp119b A T 17: 56,246,499 (GRCm39) M229K probably benign Het
Zfp384 CCAAGCTCAAGC CCAAGC 6: 125,013,418 (GRCm39) probably benign Het
Zfp384 GGCCCAGGC GGCCCAGGCCCACGCCCAGGC 6: 125,013,451 (GRCm39) probably benign Het
Zyx T A 6: 42,334,330 (GRCm39) L518Q probably damaging Het
Other mutations in Parp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Parp4 APN 14 56,853,917 (GRCm39) missense possibly damaging 0.82
IGL00571:Parp4 APN 14 56,884,810 (GRCm39) missense unknown
IGL00737:Parp4 APN 14 56,821,620 (GRCm39) missense probably damaging 0.99
IGL00793:Parp4 APN 14 56,840,334 (GRCm39) missense possibly damaging 0.73
IGL01108:Parp4 APN 14 56,844,897 (GRCm39) missense probably benign 0.01
IGL01131:Parp4 APN 14 56,823,217 (GRCm39) splice site probably benign
IGL01485:Parp4 APN 14 56,859,661 (GRCm39) missense possibly damaging 0.54
IGL01704:Parp4 APN 14 56,839,783 (GRCm39) missense probably damaging 0.99
IGL01993:Parp4 APN 14 56,848,245 (GRCm39) missense possibly damaging 0.82
IGL02125:Parp4 APN 14 56,827,959 (GRCm39) missense probably benign 0.33
IGL02851:Parp4 APN 14 56,886,326 (GRCm39) missense unknown
IGL02863:Parp4 APN 14 56,886,243 (GRCm39) missense unknown
IGL03065:Parp4 APN 14 56,875,326 (GRCm39) missense probably benign 0.09
IGL03117:Parp4 APN 14 56,840,313 (GRCm39) missense probably benign 0.17
IGL03271:Parp4 APN 14 56,823,082 (GRCm39) missense probably benign 0.10
IGL03309:Parp4 APN 14 56,825,265 (GRCm39) missense probably benign 0.11
IGL03408:Parp4 APN 14 56,839,865 (GRCm39) missense probably damaging 0.99
poisonous UTSW 14 56,873,205 (GRCm39) missense possibly damaging 0.65
R0515_Parp4_195 UTSW 14 56,851,124 (GRCm39) missense probably damaging 1.00
toxic UTSW 14 56,866,615 (GRCm39) missense probably benign 0.28
venomous UTSW 14 56,827,355 (GRCm39) missense possibly damaging 0.92
virulent UTSW 14 56,825,235 (GRCm39) missense probably damaging 0.97
R0278:Parp4 UTSW 14 56,844,980 (GRCm39) missense probably damaging 0.99
R0320:Parp4 UTSW 14 56,825,953 (GRCm39) critical splice donor site probably null
R0445:Parp4 UTSW 14 56,840,205 (GRCm39) splice site probably null
R0452:Parp4 UTSW 14 56,886,300 (GRCm39) missense unknown
R0511:Parp4 UTSW 14 56,873,172 (GRCm39) splice site probably benign
R0515:Parp4 UTSW 14 56,851,124 (GRCm39) missense probably damaging 1.00
R0608:Parp4 UTSW 14 56,839,861 (GRCm39) missense probably damaging 1.00
R0800:Parp4 UTSW 14 56,827,408 (GRCm39) missense probably benign 0.00
R0959:Parp4 UTSW 14 56,885,576 (GRCm39) missense unknown
R1207:Parp4 UTSW 14 56,885,339 (GRCm39) missense unknown
R1207:Parp4 UTSW 14 56,885,339 (GRCm39) missense unknown
R1342:Parp4 UTSW 14 56,827,854 (GRCm39) missense probably damaging 1.00
R1520:Parp4 UTSW 14 56,835,863 (GRCm39) missense probably damaging 1.00
R1565:Parp4 UTSW 14 56,827,329 (GRCm39) splice site probably benign
R1574:Parp4 UTSW 14 56,839,752 (GRCm39) missense probably damaging 0.98
R1574:Parp4 UTSW 14 56,839,752 (GRCm39) missense probably damaging 0.98
R1649:Parp4 UTSW 14 56,827,885 (GRCm39) missense possibly damaging 0.95
R1666:Parp4 UTSW 14 56,861,620 (GRCm39) missense possibly damaging 0.91
R1781:Parp4 UTSW 14 56,864,838 (GRCm39) splice site probably null
R1799:Parp4 UTSW 14 56,885,589 (GRCm39) missense unknown
R1823:Parp4 UTSW 14 56,827,329 (GRCm39) splice site probably benign
R1859:Parp4 UTSW 14 56,886,372 (GRCm39) missense unknown
R1919:Parp4 UTSW 14 56,861,474 (GRCm39) missense probably damaging 1.00
R2000:Parp4 UTSW 14 56,851,181 (GRCm39) missense probably damaging 0.98
R2032:Parp4 UTSW 14 56,866,553 (GRCm39) missense possibly damaging 0.71
R2034:Parp4 UTSW 14 56,871,720 (GRCm39) missense probably damaging 1.00
R2177:Parp4 UTSW 14 56,896,746 (GRCm39) missense unknown
R2291:Parp4 UTSW 14 56,851,274 (GRCm39) missense probably damaging 1.00
R2865:Parp4 UTSW 14 56,851,181 (GRCm39) missense probably damaging 0.98
R3012:Parp4 UTSW 14 56,832,873 (GRCm39) critical splice donor site probably null
R3841:Parp4 UTSW 14 56,825,235 (GRCm39) missense probably damaging 0.97
R3913:Parp4 UTSW 14 56,857,975 (GRCm39) missense probably damaging 1.00
R4064:Parp4 UTSW 14 56,861,597 (GRCm39) missense probably benign 0.06
R4201:Parp4 UTSW 14 56,829,848 (GRCm39) missense possibly damaging 0.95
R4288:Parp4 UTSW 14 56,844,951 (GRCm39) missense probably damaging 1.00
R4360:Parp4 UTSW 14 56,866,661 (GRCm39) missense possibly damaging 0.89
R4506:Parp4 UTSW 14 56,889,761 (GRCm39) missense unknown
R4577:Parp4 UTSW 14 56,827,867 (GRCm39) missense probably benign 0.33
R4633:Parp4 UTSW 14 56,885,048 (GRCm39) missense unknown
R4762:Parp4 UTSW 14 56,848,267 (GRCm39) missense probably damaging 1.00
R4836:Parp4 UTSW 14 56,823,195 (GRCm39) missense probably benign 0.00
R4974:Parp4 UTSW 14 56,827,355 (GRCm39) missense possibly damaging 0.92
R5049:Parp4 UTSW 14 56,873,188 (GRCm39) missense possibly damaging 0.81
R5479:Parp4 UTSW 14 56,861,552 (GRCm39) missense probably benign 0.01
R5683:Parp4 UTSW 14 56,884,886 (GRCm39) nonsense probably null
R5884:Parp4 UTSW 14 56,852,207 (GRCm39) missense probably damaging 1.00
R5965:Parp4 UTSW 14 56,861,489 (GRCm39) missense probably benign 0.11
R6001:Parp4 UTSW 14 56,878,740 (GRCm39) missense probably benign 0.01
R6027:Parp4 UTSW 14 56,866,615 (GRCm39) missense probably benign 0.28
R6230:Parp4 UTSW 14 56,844,990 (GRCm39) missense probably damaging 1.00
R6242:Parp4 UTSW 14 56,832,856 (GRCm39) nonsense probably null
R6355:Parp4 UTSW 14 56,839,757 (GRCm39) missense possibly damaging 0.61
R6414:Parp4 UTSW 14 56,864,838 (GRCm39) splice site probably null
R6418:Parp4 UTSW 14 56,858,108 (GRCm39) critical splice donor site probably null
R6477:Parp4 UTSW 14 56,884,694 (GRCm39) missense probably benign 0.00
R6542:Parp4 UTSW 14 56,885,339 (GRCm39) missense unknown
R6759:Parp4 UTSW 14 56,857,947 (GRCm39) missense probably benign 0.10
R6995:Parp4 UTSW 14 56,851,196 (GRCm39) missense probably damaging 0.97
R7002:Parp4 UTSW 14 56,839,861 (GRCm39) missense probably damaging 1.00
R7026:Parp4 UTSW 14 56,858,049 (GRCm39) missense probably benign 0.01
R7062:Parp4 UTSW 14 56,852,216 (GRCm39) missense possibly damaging 0.48
R7101:Parp4 UTSW 14 56,827,430 (GRCm39) missense probably benign 0.02
R7124:Parp4 UTSW 14 56,840,256 (GRCm39) missense probably benign 0.11
R7162:Parp4 UTSW 14 56,886,333 (GRCm39) missense unknown
R7293:Parp4 UTSW 14 56,885,303 (GRCm39) small deletion probably benign
R7297:Parp4 UTSW 14 56,885,138 (GRCm39) missense not run
R7337:Parp4 UTSW 14 56,839,852 (GRCm39) missense probably damaging 1.00
R7539:Parp4 UTSW 14 56,873,212 (GRCm39) missense probably damaging 1.00
R7575:Parp4 UTSW 14 56,875,375 (GRCm39) missense probably benign 0.28
R7808:Parp4 UTSW 14 56,873,205 (GRCm39) missense possibly damaging 0.65
R7854:Parp4 UTSW 14 56,896,805 (GRCm39) missense unknown
R7960:Parp4 UTSW 14 56,832,708 (GRCm39) splice site probably null
R8152:Parp4 UTSW 14 56,884,703 (GRCm39) missense probably benign 0.00
R8344:Parp4 UTSW 14 56,886,186 (GRCm39) missense unknown
R8416:Parp4 UTSW 14 56,825,271 (GRCm39) critical splice donor site probably null
R8726:Parp4 UTSW 14 56,866,556 (GRCm39) missense probably benign 0.04
R8752:Parp4 UTSW 14 56,886,073 (GRCm39) missense unknown
R8804:Parp4 UTSW 14 56,853,900 (GRCm39) nonsense probably null
R9046:Parp4 UTSW 14 56,864,927 (GRCm39) missense probably damaging 0.98
R9176:Parp4 UTSW 14 56,873,274 (GRCm39) missense possibly damaging 0.54
R9303:Parp4 UTSW 14 56,852,224 (GRCm39) critical splice donor site probably null
R9303:Parp4 UTSW 14 56,832,790 (GRCm39) frame shift probably null
R9305:Parp4 UTSW 14 56,852,224 (GRCm39) critical splice donor site probably null
R9305:Parp4 UTSW 14 56,832,790 (GRCm39) frame shift probably null
R9360:Parp4 UTSW 14 56,878,775 (GRCm39) critical splice donor site probably null
R9430:Parp4 UTSW 14 56,866,673 (GRCm39) missense probably damaging 1.00
R9491:Parp4 UTSW 14 56,832,828 (GRCm39) missense probably damaging 0.99
R9729:Parp4 UTSW 14 56,885,888 (GRCm39) missense unknown
Z1177:Parp4 UTSW 14 56,829,824 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCCCAATTGTCCAGCTTC -3'
(R):5'- CAGAACTAGAGCTGCAGGC -3'

Sequencing Primer
(F):5'- CAATTGTCCAGCTTCTTGGAAG -3'
(R):5'- CAGAAAGGTAAGAAAACTCAGCTGTG -3'
Posted On 2019-12-04