Incidental Mutation 'R9224:Prune2'
ID 699740
Institutional Source Beutler Lab
Gene Symbol Prune2
Ensembl Gene ENSMUSG00000039126
Gene Name prune homolog 2
Synonyms A230083H22Rik, 6330414G02Rik, A330102H22Rik
Accession Numbers

Genbank: NM_181348

Essential gene? Non essential (E-score: 0.000) question?
Stock # R9224 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 16956118-17223932 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17120029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 966 (T966A)
Ref Sequence ENSEMBL: ENSMUSP00000084977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087689]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000087689
AA Change: T966A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084977
Gene: ENSMUSG00000039126
AA Change: T966A

DomainStartEndE-ValueType
DHHA2 208 351 8.32e-17 SMART
low complexity region 433 445 N/A INTRINSIC
low complexity region 476 488 N/A INTRINSIC
low complexity region 547 553 N/A INTRINSIC
low complexity region 962 975 N/A INTRINSIC
low complexity region 1071 1082 N/A INTRINSIC
low complexity region 1368 1378 N/A INTRINSIC
low complexity region 1533 1545 N/A INTRINSIC
low complexity region 1668 1685 N/A INTRINSIC
low complexity region 1740 1751 N/A INTRINSIC
low complexity region 2162 2175 N/A INTRINSIC
low complexity region 2222 2233 N/A INTRINSIC
low complexity region 2591 2606 N/A INTRINSIC
low complexity region 2731 2744 N/A INTRINSIC
SEC14 2882 3037 2.08e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Allele List at MGI

All alleles(160) : Gene trapped(160)

Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,717,100 S229L possibly damaging Het
Actc1 TGA T 2: 114,049,229 probably null Het
Actl9 G A 17: 33,434,030 A355T probably benign Het
Adamts8 A G 9: 30,942,892 Q19R probably benign Het
Akr1c14 A T 13: 4,080,695 Y216F possibly damaging Het
Alms1 T C 6: 85,621,788 C1199R possibly damaging Het
Apc2 T C 10: 80,314,277 S1722P probably damaging Het
Arid1a T C 4: 133,681,856 E1395G unknown Het
Atp6v0e2 T C 6: 48,539,256 V46A possibly damaging Het
Bcar3 A G 3: 122,525,442 R743G probably damaging Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Bsn C A 9: 108,105,487 R917L Het
Cabyr T G 18: 12,754,221 V303G possibly damaging Het
Carmil1 A T 13: 24,108,529 I429N probably damaging Het
Ccdc27 T C 4: 154,037,717 N235D unknown Het
Ccdc61 T C 7: 18,903,821 M37V probably benign Het
Cd40 A T 2: 165,056,796 I48F unknown Het
Cdk13 A T 13: 17,766,486 S664R probably damaging Het
Cel TTA TTATA 2: 28,559,429 probably null Het
Cfap46 T A 7: 139,678,500 R286* probably null Het
Ckap2 A C 8: 22,169,938 I509S possibly damaging Het
Clptm1l A T 13: 73,604,225 probably benign Het
Col11a1 T G 3: 114,208,280 M1591R unknown Het
Col6a5 C A 9: 105,937,395 A473S unknown Het
Cxcr2 T A 1: 74,158,597 D83E probably damaging Het
Cyp2c39 G A 19: 39,538,888 C226Y probably benign Het
Ddr1 A C 17: 35,689,717 F352C probably damaging Het
Defb22 T A 2: 152,485,801 T155S unknown Het
Dennd4c G T 4: 86,819,933 E935* probably null Het
Dst A C 1: 34,291,798 E4889D probably damaging Het
Emilin1 T A 5: 30,917,479 C355S probably damaging Het
Enpp3 C T 10: 24,774,818 V807I probably benign Het
Fcnb T A 2: 28,079,148 D179V probably damaging Het
Ficd T A 5: 113,737,135 D88E probably benign Het
Fndc3b T C 3: 27,470,301 K437E possibly damaging Het
Fyb2 T A 4: 104,995,908 W566R probably benign Het
Gm11639 A G 11: 104,770,975 Q1314R probably benign Het
Gm14403 A G 2: 177,508,543 Q94R probably benign Het
Gm14548 T C 7: 3,897,235 T123A probably benign Het
Gm32687 T A 10: 81,879,032 I86N probably benign Het
Gpam T G 19: 55,087,475 D235A probably damaging Het
Gstt4 T C 10: 75,815,212 E192G probably damaging Het
H2-Q6 T G 17: 35,425,333 V97G probably benign Het
Hcn1 G A 13: 117,925,718 G507S unknown Het
Hydin T C 8: 110,532,884 I2496T probably benign Het
Jund A G 8: 70,699,215 D53G probably damaging Het
Kat6b T A 14: 21,669,963 M1461K probably benign Het
Lnx1 T G 5: 74,606,149 K435Q probably benign Het
Lpcat1 C A 13: 73,510,042 L316M probably damaging Het
Lrrtm3 ATTTT ATTTTT 10: 64,089,256 probably null Het
Ly6c1 T A 15: 75,044,616 T126S probably benign Het
Macf1 A G 4: 123,432,897 S4938P probably damaging Het
Map2k2 T C 10: 81,118,174 V158A possibly damaging Het
Map3k4 A G 17: 12,238,086 V1323A probably damaging Het
Map4k5 A T 12: 69,892,693 V23E possibly damaging Het
Med30 T G 15: 52,719,443 L92R probably damaging Het
Mroh8 C T 2: 157,221,149 G851S possibly damaging Het
Msmb T A 14: 32,158,103 C83* probably null Het
Mtif2 A T 11: 29,544,364 R655S probably benign Het
Myo10 C T 15: 25,807,995 S1901L probably benign Het
Myom2 A T 8: 15,128,804 I1279F possibly damaging Het
Nat9 T C 11: 115,184,615 I67V probably damaging Het
Ncam1 A G 9: 49,508,695 S774P probably damaging Het
Ndufaf6 T C 4: 11,062,089 T181A probably damaging Het
Nlrp4f T A 13: 65,185,015 K110* probably null Het
Nlrp9b T C 7: 20,019,292 S41P probably benign Het
Nlrp9b A G 7: 20,023,551 T238A probably benign Het
Noxo1 A T 17: 24,700,331 E342D probably benign Het
Nt5dc2 T C 14: 31,135,708 M55T probably benign Het
Olfr1040 T A 2: 86,145,876 N286I probably damaging Het
Olfr342 A T 2: 36,527,826 Q138L probably benign Het
Olfr453 T C 6: 42,744,970 F311S probably benign Het
Olfr466 C T 13: 65,152,389 T55I probably damaging Het
Olfr700 T C 7: 106,806,282 Y60C probably damaging Het
Olfr782 T A 10: 129,350,581 M6K probably benign Het
Olfr800 C A 10: 129,660,138 L111M probably damaging Het
Olfr92 T C 17: 37,111,875 T36A possibly damaging Het
P4ha2 C T 11: 54,119,137 P240L possibly damaging Het
Pcdha11 T A 18: 37,006,020 L234Q probably damaging Het
Pgm3 C T 9: 86,556,362 A457T probably benign Het
Pkp4 T C 2: 59,314,394 V533A probably benign Het
Plac8l1 T C 18: 42,192,637 T68A possibly damaging Het
Pou2f3 A T 9: 43,139,399 I222N probably damaging Het
Ppp1r14d T C 2: 119,229,741 D20G probably benign Het
Ppp1r37 C A 7: 19,531,804 G679V probably damaging Het
Ppp6r2 T A 15: 89,262,396 I199N probably damaging Het
Ptdss2 T C 7: 141,154,885 V375A probably benign Het
Rara TGCCCCGC TGCCCCGCCCCGC 11: 98,966,410 probably null Het
Rin2 T A 2: 145,878,902 C718* probably null Het
Rptor C T 11: 119,894,287 T1170I probably benign Het
Samd5 T C 10: 9,674,515 Y150C probably damaging Het
Setd1b T C 5: 123,158,710 S1245P unknown Het
Sipa1l2 T C 8: 125,491,977 E207G probably damaging Het
Slc29a1 C A 17: 45,586,227 V378L probably damaging Het
Slc2a12 T G 10: 22,665,362 I372S possibly damaging Het
Slc7a10 T A 7: 35,195,214 Y99* probably null Het
Smco3 A G 6: 136,831,519 V119A probably damaging Het
Sptlc3 C T 2: 139,494,234 T10I probably benign Het
Sri T A 5: 8,063,323 W105R probably damaging Het
Stk35 T C 2: 129,810,571 Y331H probably damaging Het
Tipin T C 9: 64,288,148 I12T probably benign Het
Tlr5 A G 1: 182,975,128 T666A probably benign Het
Tmprss11g C A 5: 86,492,144 V222L probably benign Het
Tnfrsf11b T A 15: 54,252,160 Y347F possibly damaging Het
Traf6 A G 2: 101,697,167 T421A probably benign Het
Trrap T A 5: 144,771,239 D30E possibly damaging Het
Ube2k T A 5: 65,594,504 Y162N probably damaging Het
Uck2 A T 1: 167,237,602 V49E probably damaging Het
Vcam1 A T 3: 116,110,943 Y718* probably null Het
Zan T C 5: 137,474,007 N159S probably damaging Het
Zfp438 A G 18: 5,210,788 L750P probably damaging Het
Zfp54 A T 17: 21,433,775 Y177F probably benign Het
Other mutations in Prune2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Prune2 APN 19 17168344 critical splice donor site probably null
IGL00848:Prune2 APN 19 17119118 missense probably damaging 1.00
IGL00862:Prune2 APN 19 17119349 missense probably benign 0.41
IGL00915:Prune2 APN 19 17016253 missense probably damaging 1.00
IGL01084:Prune2 APN 19 17118209 missense probably benign 0.19
IGL01109:Prune2 APN 19 17123879 missense probably benign 0.03
IGL01372:Prune2 APN 19 17125069 missense probably damaging 1.00
IGL01650:Prune2 APN 19 17168292 missense possibly damaging 0.95
IGL01752:Prune2 APN 19 17123903 missense possibly damaging 0.50
IGL01812:Prune2 APN 19 17003777 missense possibly damaging 0.50
IGL01902:Prune2 APN 19 17118638 missense probably benign 0.00
IGL02195:Prune2 APN 19 17119557 missense probably benign 0.00
IGL02502:Prune2 APN 19 17123881 missense probably benign 0.00
IGL02569:Prune2 APN 19 17178859 missense probably damaging 0.99
IGL02693:Prune2 APN 19 17124491 missense probably benign 0.03
IGL02737:Prune2 APN 19 17193411 nonsense probably null
IGL02794:Prune2 APN 19 17119361 missense probably benign 0.19
IGL02985:Prune2 APN 19 17016359 critical splice donor site probably null
IGL03349:Prune2 APN 19 17123346 missense probably damaging 1.00
3-1:Prune2 UTSW 19 17125282 missense probably benign 0.00
R0060:Prune2 UTSW 19 17003733 missense probably damaging 1.00
R0098:Prune2 UTSW 19 17123903 missense possibly damaging 0.50
R0098:Prune2 UTSW 19 17123903 missense possibly damaging 0.50
R0165:Prune2 UTSW 19 17122610 missense probably benign 0.00
R0277:Prune2 UTSW 19 17121389 missense probably damaging 0.99
R0321:Prune2 UTSW 19 17120927 missense possibly damaging 0.78
R0321:Prune2 UTSW 19 17122454 missense probably benign 0.39
R0374:Prune2 UTSW 19 17120910 missense probably benign 0.00
R0380:Prune2 UTSW 19 17124007 missense probably damaging 1.00
R0396:Prune2 UTSW 19 17123080 missense probably benign 0.35
R0408:Prune2 UTSW 19 17122310 missense probably benign 0.00
R0421:Prune2 UTSW 19 17123311 missense probably benign 0.02
R0480:Prune2 UTSW 19 17006792 splice site probably benign
R0531:Prune2 UTSW 19 17006753 missense probably damaging 1.00
R0546:Prune2 UTSW 19 17020666 splice site probably benign
R0554:Prune2 UTSW 19 17125218 nonsense probably null
R0659:Prune2 UTSW 19 17122835 missense probably damaging 1.00
R0699:Prune2 UTSW 19 17123955 missense probably damaging 1.00
R0781:Prune2 UTSW 19 17125222 missense probably benign
R1110:Prune2 UTSW 19 17125222 missense probably benign
R1178:Prune2 UTSW 19 17123105 missense probably benign 0.22
R1181:Prune2 UTSW 19 17123105 missense probably benign 0.22
R1337:Prune2 UTSW 19 17119607 missense possibly damaging 0.70
R1356:Prune2 UTSW 19 17212317 missense probably benign 0.40
R1385:Prune2 UTSW 19 17124948 missense possibly damaging 0.50
R1659:Prune2 UTSW 19 17120651 missense possibly damaging 0.59
R1738:Prune2 UTSW 19 17125010 missense probably benign 0.01
R1756:Prune2 UTSW 19 17123704 missense probably benign 0.01
R1765:Prune2 UTSW 19 17125598 missense probably damaging 1.00
R1782:Prune2 UTSW 19 17122173 missense probably benign 0.00
R1817:Prune2 UTSW 19 17122081 missense probably benign 0.00
R1838:Prune2 UTSW 19 17199878 missense probably damaging 1.00
R1851:Prune2 UTSW 19 17199139 missense probably damaging 1.00
R1852:Prune2 UTSW 19 17199139 missense probably damaging 1.00
R1866:Prune2 UTSW 19 17123492 missense probably damaging 1.00
R1911:Prune2 UTSW 19 17113674 missense probably benign 0.02
R1983:Prune2 UTSW 19 17020642 missense probably damaging 0.97
R2014:Prune2 UTSW 19 17120523 missense probably damaging 1.00
R2066:Prune2 UTSW 19 17120678 missense possibly damaging 0.57
R2088:Prune2 UTSW 19 17119745 missense possibly damaging 0.95
R2111:Prune2 UTSW 19 17208238 missense probably damaging 1.00
R2128:Prune2 UTSW 19 17122422 missense probably benign 0.00
R2165:Prune2 UTSW 19 17120182 missense probably benign 0.19
R2241:Prune2 UTSW 19 17123092 missense probably damaging 0.96
R2278:Prune2 UTSW 19 17118555 missense possibly damaging 0.93
R2504:Prune2 UTSW 19 17000036 missense probably damaging 1.00
R2508:Prune2 UTSW 19 17122622 missense probably benign 0.43
R3055:Prune2 UTSW 19 17125043 missense probably damaging 0.98
R3086:Prune2 UTSW 19 17121413 missense possibly damaging 0.75
R3104:Prune2 UTSW 19 17119156 missense probably damaging 1.00
R3105:Prune2 UTSW 19 17119156 missense probably damaging 1.00
R3547:Prune2 UTSW 19 17124348 missense probably damaging 0.96
R3702:Prune2 UTSW 19 17178871 missense probably damaging 1.00
R3753:Prune2 UTSW 19 17125454 missense probably benign 0.38
R3933:Prune2 UTSW 19 17123954 missense probably damaging 1.00
R3935:Prune2 UTSW 19 17199786 missense probably damaging 1.00
R4022:Prune2 UTSW 19 17000020 missense probably damaging 1.00
R4042:Prune2 UTSW 19 17003826 critical splice donor site probably null
R4164:Prune2 UTSW 19 17003734 missense possibly damaging 0.87
R4453:Prune2 UTSW 19 17121910 missense probably benign 0.00
R4642:Prune2 UTSW 19 17020655 critical splice donor site probably null
R4661:Prune2 UTSW 19 17000023 missense probably damaging 1.00
R4666:Prune2 UTSW 19 17120188 nonsense probably null
R4823:Prune2 UTSW 19 17120504 missense probably damaging 1.00
R4897:Prune2 UTSW 19 17121855 missense probably benign 0.03
R4922:Prune2 UTSW 19 17122752 missense probably benign 0.00
R4962:Prune2 UTSW 19 17122273 missense probably benign 0.11
R5026:Prune2 UTSW 19 17199142 missense probably damaging 1.00
R5042:Prune2 UTSW 19 17119797 missense possibly damaging 0.94
R5124:Prune2 UTSW 19 17199910 missense probably damaging 1.00
R5133:Prune2 UTSW 19 17003631 missense probably damaging 1.00
R5184:Prune2 UTSW 19 17216357 missense possibly damaging 0.95
R5234:Prune2 UTSW 19 17118668 missense probably damaging 1.00
R5339:Prune2 UTSW 19 17120872 missense probably damaging 1.00
R5363:Prune2 UTSW 19 17118266 missense probably damaging 1.00
R5382:Prune2 UTSW 19 17003659 missense probably damaging 1.00
R5436:Prune2 UTSW 19 17020643 missense probably damaging 1.00
R5480:Prune2 UTSW 19 17120947 missense possibly damaging 0.66
R5635:Prune2 UTSW 19 17118209 missense probably benign 0.19
R5678:Prune2 UTSW 19 17118668 missense probably damaging 1.00
R5814:Prune2 UTSW 19 17016361 splice site probably null
R5894:Prune2 UTSW 19 17121391 missense possibly damaging 0.88
R6011:Prune2 UTSW 19 17118716 missense probably benign 0.35
R6207:Prune2 UTSW 19 17118116 missense probably damaging 1.00
R6218:Prune2 UTSW 19 17121562 missense probably benign 0.00
R6573:Prune2 UTSW 19 17121157 missense probably damaging 1.00
R6573:Prune2 UTSW 19 17121158 missense possibly damaging 0.61
R6734:Prune2 UTSW 19 17003733 missense probably damaging 1.00
R6805:Prune2 UTSW 19 17120590 missense probably benign
R6837:Prune2 UTSW 19 17178928 missense probably damaging 1.00
R6850:Prune2 UTSW 19 17122188 missense probably benign 0.00
R6858:Prune2 UTSW 19 17118106 missense possibly damaging 0.70
R6874:Prune2 UTSW 19 17123228 missense probably damaging 1.00
R6954:Prune2 UTSW 19 17000021 missense probably damaging 1.00
R7098:Prune2 UTSW 19 17120602 missense probably benign 0.39
R7102:Prune2 UTSW 19 17121213 missense probably benign 0.24
R7246:Prune2 UTSW 19 17121368 missense probably damaging 0.99
R7284:Prune2 UTSW 19 17119886 missense probably damaging 1.00
R7295:Prune2 UTSW 19 17119897 missense probably benign 0.01
R7371:Prune2 UTSW 19 17119370 missense probably benign 0.02
R7651:Prune2 UTSW 19 17120408 missense probably damaging 1.00
R7830:Prune2 UTSW 19 17122674 missense probably benign 0.21
R7872:Prune2 UTSW 19 17119434 missense probably benign 0.05
R7881:Prune2 UTSW 19 17123029 missense possibly damaging 0.50
R7966:Prune2 UTSW 19 17178859 missense probably damaging 0.99
R7969:Prune2 UTSW 19 17201670 missense probably damaging 0.98
R8092:Prune2 UTSW 19 17119993 missense probably damaging 1.00
R8110:Prune2 UTSW 19 17120719 missense probably benign 0.22
R8115:Prune2 UTSW 19 17123924 missense probably benign 0.02
R8129:Prune2 UTSW 19 17118836 missense probably benign 0.01
R8169:Prune2 UTSW 19 17125091 missense probably benign 0.10
R8171:Prune2 UTSW 19 17120518 missense probably damaging 1.00
R8176:Prune2 UTSW 19 17118292 missense probably damaging 1.00
R8200:Prune2 UTSW 19 17124973 missense probably benign 0.01
R8217:Prune2 UTSW 19 17120116 missense probably benign 0.01
R8258:Prune2 UTSW 19 17212308 missense unknown
R8259:Prune2 UTSW 19 17212308 missense unknown
R8289:Prune2 UTSW 19 17123009 missense probably benign 0.43
R8329:Prune2 UTSW 19 17121265 missense probably benign 0.02
R8342:Prune2 UTSW 19 17125663 missense probably benign 0.01
R8558:Prune2 UTSW 19 17122238 missense probably damaging 0.98
R8732:Prune2 UTSW 19 17120405 missense probably damaging 1.00
R8743:Prune2 UTSW 19 17119556 missense probably benign 0.22
R8769:Prune2 UTSW 19 17123078 missense probably damaging 0.96
R8862:Prune2 UTSW 19 17120146 missense probably benign 0.04
R8936:Prune2 UTSW 19 17121835 missense probably benign 0.24
R9040:Prune2 UTSW 19 17120627 missense probably damaging 1.00
R9084:Prune2 UTSW 19 17120377 missense probably damaging 1.00
R9273:Prune2 UTSW 19 17118326 missense possibly damaging 0.74
R9275:Prune2 UTSW 19 17123780 missense probably benign 0.06
R9278:Prune2 UTSW 19 17123780 missense probably benign 0.06
R9290:Prune2 UTSW 19 17168327 missense probably benign 0.41
R9305:Prune2 UTSW 19 17120261 missense probably benign 0.14
R9317:Prune2 UTSW 19 17121670 missense probably benign 0.00
R9354:Prune2 UTSW 19 17122622 missense probably benign 0.43
R9373:Prune2 UTSW 19 17122138 missense probably benign
R9394:Prune2 UTSW 19 17003689 missense probably damaging 1.00
R9405:Prune2 UTSW 19 17216344 missense probably damaging 0.99
R9476:Prune2 UTSW 19 17119342 missense possibly damaging 0.64
R9532:Prune2 UTSW 19 17122430 missense probably benign 0.00
X0019:Prune2 UTSW 19 17121517 missense probably benign 0.16
X0028:Prune2 UTSW 19 17122885 missense probably damaging 1.00
X0064:Prune2 UTSW 19 17122375 missense probably damaging 1.00
X0066:Prune2 UTSW 19 17118790 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTTGGTGGATCCTAAAGC -3'
(R):5'- ATGCCCACATGTCTAGATTCCC -3'

Sequencing Primer
(F):5'- CTTGGTGGATCCTAAAGCTACAG -3'
(R):5'- TGTCTAGATTCCCAGGACCAG -3'
Posted On 2022-02-07