Incidental Mutation 'R7135:Pum2'
ID 553019
Institutional Source Beutler Lab
Gene Symbol Pum2
Ensembl Gene ENSMUSG00000020594
Gene Name pumilio RNA-binding family member 2
Synonyms Pumm2, 5730503J23Rik
MMRRC Submission 045247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7135 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 8724134-8802581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8778952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 508 (Q508L)
Ref Sequence ENSEMBL: ENSMUSP00000131074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020915] [ENSMUST00000111122] [ENSMUST00000111123] [ENSMUST00000163569] [ENSMUST00000165293] [ENSMUST00000168361] [ENSMUST00000169089] [ENSMUST00000178015]
AlphaFold Q80U58
PDB Structure Structure and RNA binding of the mouse Pumilio-2 Puf Domain [X-RAY DIFFRACTION]
Structure and RNA binding of the mouse Pumilio-2 Puf Domain [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020915
AA Change: Q503L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: Q503L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 319 336 N/A INTRINSIC
low complexity region 353 378 N/A INTRINSIC
low complexity region 464 490 N/A INTRINSIC
low complexity region 498 509 N/A INTRINSIC
low complexity region 521 535 N/A INTRINSIC
low complexity region 542 576 N/A INTRINSIC
low complexity region 591 609 N/A INTRINSIC
Pumilio 642 677 2.35e-7 SMART
Pumilio 678 713 6.54e-6 SMART
Pumilio 714 749 2.89e-7 SMART
Pumilio 750 785 3.37e-8 SMART
Pumilio 786 821 4.84e-9 SMART
Pumilio 822 857 3.2e-9 SMART
Pumilio 858 893 5.78e-7 SMART
Pumilio 901 936 3.62e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111122
AA Change: Q508L

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
low complexity region 469 495 N/A INTRINSIC
low complexity region 503 514 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 547 602 N/A INTRINSIC
low complexity region 630 660 N/A INTRINSIC
low complexity region 675 693 N/A INTRINSIC
Pumilio 726 761 2.35e-7 SMART
Pumilio 762 797 6.54e-6 SMART
Pumilio 798 833 2.89e-7 SMART
Pumilio 834 869 3.37e-8 SMART
Pumilio 870 905 4.84e-9 SMART
Pumilio 906 941 3.2e-9 SMART
Pumilio 942 977 5.78e-7 SMART
Pumilio 985 1020 3.62e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111123
AA Change: Q508L

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
low complexity region 469 495 N/A INTRINSIC
low complexity region 503 514 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 547 602 N/A INTRINSIC
low complexity region 630 660 N/A INTRINSIC
low complexity region 675 693 N/A INTRINSIC
Pumilio 726 761 2.35e-7 SMART
Pumilio 762 797 6.54e-6 SMART
Pumilio 798 833 2.89e-7 SMART
Pumilio 834 869 3.37e-8 SMART
Pumilio 870 905 4.84e-9 SMART
Pumilio 906 941 3.2e-9 SMART
Pumilio 942 977 5.78e-7 SMART
Pumilio 985 1020 3.62e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163569
AA Change: Q508L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
low complexity region 469 495 N/A INTRINSIC
low complexity region 503 514 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 547 602 N/A INTRINSIC
low complexity region 630 660 N/A INTRINSIC
low complexity region 675 693 N/A INTRINSIC
Pumilio 726 761 2.35e-7 SMART
Pumilio 762 797 6.54e-6 SMART
Pumilio 798 832 1.29e-4 SMART
Pumilio 836 871 3.37e-8 SMART
Pumilio 872 907 4.84e-9 SMART
Pumilio 908 943 3.2e-9 SMART
Pumilio 944 979 5.78e-7 SMART
Pumilio 987 1022 3.62e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164818
SMART Domains Protein: ENSMUSP00000129243
Gene: ENSMUSG00000020594

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
Pumilio 75 110 2.35e-7 SMART
Pumilio 111 139 1.58e1 SMART
Pumilio 140 175 3.37e-8 SMART
Pumilio 176 211 4.84e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165293
Predicted Effect possibly damaging
Transcript: ENSMUST00000168361
AA Change: Q508L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
low complexity region 469 495 N/A INTRINSIC
low complexity region 503 514 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 547 602 N/A INTRINSIC
low complexity region 630 660 N/A INTRINSIC
low complexity region 675 693 N/A INTRINSIC
Pumilio 726 761 2.35e-7 SMART
Pumilio 762 797 6.54e-6 SMART
Pumilio 798 832 1.29e-4 SMART
Pumilio 836 871 3.37e-8 SMART
Pumilio 872 907 4.84e-9 SMART
Pumilio 908 943 3.2e-9 SMART
Pumilio 944 979 5.78e-7 SMART
Pumilio 987 1022 3.62e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169089
AA Change: Q508L

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
low complexity region 469 495 N/A INTRINSIC
low complexity region 503 514 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 547 581 N/A INTRINSIC
low complexity region 596 614 N/A INTRINSIC
Pumilio 647 682 2.35e-7 SMART
Pumilio 683 718 6.54e-6 SMART
Pumilio 719 754 2.89e-7 SMART
Pumilio 755 790 3.37e-8 SMART
Pumilio 791 826 4.84e-9 SMART
Pumilio 827 862 3.2e-9 SMART
Pumilio 863 898 5.78e-7 SMART
Pumilio 906 941 3.62e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178015
AA Change: Q508L

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
low complexity region 269 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
low complexity region 469 495 N/A INTRINSIC
low complexity region 503 514 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 547 581 N/A INTRINSIC
low complexity region 596 614 N/A INTRINSIC
Pumilio 647 682 2.35e-7 SMART
Pumilio 683 718 6.54e-6 SMART
Pumilio 719 754 2.89e-7 SMART
Pumilio 755 790 3.37e-8 SMART
Pumilio 791 826 4.84e-9 SMART
Pumilio 827 862 3.2e-9 SMART
Pumilio 863 898 5.78e-7 SMART
Pumilio 906 941 3.62e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (83/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit significantly smaller testes and seminiferous tubule degeneration but are otherwise viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,887 (GRCm39) Y221* probably null Het
AC166344.1 T A 14: 43,158,245 (GRCm39) F97I Het
Ankmy2 T C 12: 36,246,311 (GRCm39) S412P probably benign Het
Ap1s3 T C 1: 79,586,919 (GRCm39) T144A probably benign Het
Armh2 T C 13: 24,925,489 (GRCm39) S78P probably benign Het
Asb3 T A 11: 30,948,501 (GRCm39) L59* probably null Het
Asxl3 G T 18: 22,650,758 (GRCm39) G916* probably null Het
Asxl3 G C 18: 22,650,759 (GRCm39) G916A probably damaging Het
Birc2 A C 9: 7,818,762 (GRCm39) F610V probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccdc162 A G 10: 41,549,855 (GRCm39) S343P probably benign Het
Ccnk T A 12: 108,152,734 (GRCm39) L17Q probably damaging Het
Cd59b G A 2: 103,914,792 (GRCm39) W63* probably null Het
Chrm3 C T 13: 9,927,837 (GRCm39) V400I probably benign Het
Crb1 C A 1: 139,171,105 (GRCm39) V762F probably damaging Het
Cspp1 C T 1: 10,159,161 (GRCm39) T529I possibly damaging Het
Cttnbp2 A G 6: 18,448,446 (GRCm39) I71T possibly damaging Het
Cyb561 C A 11: 105,826,393 (GRCm39) G90V probably damaging Het
Cyld T A 8: 89,471,520 (GRCm39) D804E possibly damaging Het
Ddx31 G A 2: 28,738,318 (GRCm39) V160I probably benign Het
Dgkg T C 16: 22,319,132 (GRCm39) D643G probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 T G 14: 26,523,370 (GRCm39) I1953S probably damaging Het
Dnah7b T C 1: 46,178,870 (GRCm39) W848R probably damaging Het
Dnah7c C T 1: 46,572,368 (GRCm39) T947M probably damaging Het
Dnmt3c C A 2: 153,556,872 (GRCm39) probably null Het
Dsp A T 13: 38,363,049 (GRCm39) Y443F probably damaging Het
Espl1 T A 15: 102,227,959 (GRCm39) C1603* probably null Het
Faiml G T 9: 99,116,496 (GRCm39) R65S probably benign Het
Gfpt2 T C 11: 49,695,782 (GRCm39) I4T probably damaging Het
Gm10376 T A 14: 42,867,950 (GRCm39) M179L probably benign Het
Gm4302 T A 10: 100,177,589 (GRCm39) M291K unknown Het
Gnb1l T A 16: 18,363,918 (GRCm39) D154E probably benign Het
Igkv10-94 T C 6: 68,681,727 (GRCm39) R38G possibly damaging Het
Inmt A T 6: 55,148,013 (GRCm39) Y205* probably null Het
Krba1 A G 6: 48,393,233 (GRCm39) Q1049R probably benign Het
Lpxn T A 19: 12,810,683 (GRCm39) C376S probably damaging Het
Lrrc52 T A 1: 167,294,019 (GRCm39) I89F probably damaging Het
Map9 A T 3: 82,270,765 (GRCm39) T110S probably benign Het
Mccc1 T C 3: 36,049,967 (GRCm39) Y75C probably damaging Het
Mff T A 1: 82,724,812 (GRCm39) L203* probably null Het
Micall1 C A 15: 78,993,624 (GRCm39) D47E unknown Het
Mink1 T C 11: 70,494,329 (GRCm39) F243S probably damaging Het
Mlycd C T 8: 120,129,216 (GRCm39) R228W probably damaging Het
Msr1 A T 8: 40,042,465 (GRCm39) V370E possibly damaging Het
Naip6 T C 13: 100,436,927 (GRCm39) E532G probably damaging Het
Nepn G A 10: 52,267,815 (GRCm39) C27Y probably damaging Het
Ninl T C 2: 150,797,524 (GRCm39) H592R probably benign Het
Nr4a2 A G 2: 57,002,261 (GRCm39) M64T possibly damaging Het
Oprm1 A T 10: 6,780,203 (GRCm39) I171F possibly damaging Het
Or4g16 T A 2: 111,137,365 (GRCm39) F272I probably benign Het
Or5p60 T C 7: 107,723,781 (GRCm39) K230E probably damaging Het
Pcbp1 A T 6: 86,502,488 (GRCm39) M137K possibly damaging Het
Pcf11 A T 7: 92,306,524 (GRCm39) S1215T probably benign Het
Pdlim5 A T 3: 142,017,683 (GRCm39) probably null Het
Pecam1 T C 11: 106,579,857 (GRCm39) I402V probably damaging Het
Pex12 T C 11: 83,188,468 (GRCm39) T176A probably benign Het
Phf3 T C 1: 30,870,190 (GRCm39) K286R possibly damaging Het
Pik3ap1 T A 19: 41,320,760 (GRCm39) D153V probably damaging Het
Pkhd1l1 T A 15: 44,448,374 (GRCm39) probably null Het
Plekhn1 A G 4: 156,307,792 (GRCm39) V378A probably benign Het
Pramel26 A T 4: 143,537,233 (GRCm39) L366Q probably damaging Het
Ptprm A T 17: 67,251,283 (GRCm39) D531E possibly damaging Het
Rad54l A G 4: 115,963,027 (GRCm39) S324P probably damaging Het
Recql5 C T 11: 115,821,498 (GRCm39) probably null Het
Reln A T 5: 22,181,594 (GRCm39) V1763D possibly damaging Het
Rp1 T C 1: 4,418,391 (GRCm39) N907S possibly damaging Het
Scaf11 T A 15: 96,318,209 (GRCm39) N452Y possibly damaging Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Sim1 A G 10: 50,772,023 (GRCm39) T11A probably damaging Het
Slc5a12 T A 2: 110,447,059 (GRCm39) M189K possibly damaging Het
Slco2b1 C T 7: 99,344,270 (GRCm39) G10S probably null Het
Speer1j C T 5: 11,555,198 (GRCm39) P83S probably damaging Het
Stxbp3 A G 3: 108,708,071 (GRCm39) L410P probably damaging Het
Sugct T C 13: 17,476,594 (GRCm39) N297D probably benign Het
Syne1 A G 10: 5,183,409 (GRCm39) I4132T probably benign Het
Teddm1b A T 1: 153,750,912 (GRCm39) L240F probably damaging Het
Tlr5 C A 1: 182,803,088 (GRCm39) D797E possibly damaging Het
Tmprss13 G T 9: 45,249,643 (GRCm39) G327C probably damaging Het
Tnrc18 G T 5: 142,773,572 (GRCm39) A419D Het
Ttc28 T C 5: 111,427,873 (GRCm39) Y1790H probably damaging Het
Vmn1r125 T G 7: 21,006,327 (GRCm39) M75R probably damaging Het
Vwa3a T A 7: 120,372,253 (GRCm39) D276E possibly damaging Het
Wdfy3 C T 5: 102,063,303 (GRCm39) V1322M probably damaging Het
Wdr11 T C 7: 129,229,830 (GRCm39) S872P possibly damaging Het
Zc3h13 T C 14: 75,559,161 (GRCm39) S357P unknown Het
Other mutations in Pum2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Pum2 APN 12 8,783,381 (GRCm39) missense probably damaging 1.00
IGL02118:Pum2 APN 12 8,779,117 (GRCm39) missense probably benign 0.31
IGL02185:Pum2 APN 12 8,798,955 (GRCm39) critical splice donor site probably null
IGL02528:Pum2 APN 12 8,778,696 (GRCm39) nonsense probably null
IGL02718:Pum2 APN 12 8,783,344 (GRCm39) missense probably benign 0.02
Plumbat UTSW 12 8,778,779 (GRCm39) critical splice donor site probably null
Pummie UTSW 12 8,763,906 (GRCm39) nonsense probably null
Yorkshire UTSW 12 8,778,726 (GRCm39) nonsense probably null
PIT4366001:Pum2 UTSW 12 8,783,390 (GRCm39) missense probably damaging 1.00
R0152:Pum2 UTSW 12 8,778,754 (GRCm39) missense possibly damaging 0.94
R0317:Pum2 UTSW 12 8,778,754 (GRCm39) missense possibly damaging 0.94
R0357:Pum2 UTSW 12 8,771,785 (GRCm39) missense possibly damaging 0.92
R0413:Pum2 UTSW 12 8,763,464 (GRCm39) missense probably benign 0.00
R0494:Pum2 UTSW 12 8,771,736 (GRCm39) nonsense probably null
R0520:Pum2 UTSW 12 8,771,710 (GRCm39) missense probably damaging 1.00
R0727:Pum2 UTSW 12 8,794,465 (GRCm39) missense probably damaging 1.00
R1576:Pum2 UTSW 12 8,763,524 (GRCm39) missense probably benign 0.01
R2035:Pum2 UTSW 12 8,778,638 (GRCm39) nonsense probably null
R2060:Pum2 UTSW 12 8,778,726 (GRCm39) nonsense probably null
R2422:Pum2 UTSW 12 8,798,931 (GRCm39) missense possibly damaging 0.70
R2437:Pum2 UTSW 12 8,794,654 (GRCm39) missense probably benign 0.19
R3767:Pum2 UTSW 12 8,769,076 (GRCm39) nonsense probably null
R4715:Pum2 UTSW 12 8,797,272 (GRCm39) missense probably damaging 1.00
R5155:Pum2 UTSW 12 8,763,572 (GRCm39) missense possibly damaging 0.79
R5226:Pum2 UTSW 12 8,763,458 (GRCm39) missense possibly damaging 0.73
R5323:Pum2 UTSW 12 8,794,706 (GRCm39) missense probably damaging 1.00
R6250:Pum2 UTSW 12 8,794,755 (GRCm39) splice site probably null
R6253:Pum2 UTSW 12 8,798,205 (GRCm39) missense probably damaging 1.00
R6508:Pum2 UTSW 12 8,798,861 (GRCm39) missense probably benign 0.17
R6953:Pum2 UTSW 12 8,778,779 (GRCm39) critical splice donor site probably null
R7355:Pum2 UTSW 12 8,763,906 (GRCm39) nonsense probably null
R7586:Pum2 UTSW 12 8,797,206 (GRCm39) missense probably damaging 1.00
R7683:Pum2 UTSW 12 8,778,922 (GRCm39) missense possibly damaging 0.93
R7869:Pum2 UTSW 12 8,763,595 (GRCm39) missense probably benign 0.00
R7873:Pum2 UTSW 12 8,798,802 (GRCm39) missense possibly damaging 0.94
R7980:Pum2 UTSW 12 8,763,904 (GRCm39) missense probably damaging 0.98
R8166:Pum2 UTSW 12 8,771,739 (GRCm39) missense possibly damaging 0.71
R8316:Pum2 UTSW 12 8,763,456 (GRCm39) missense possibly damaging 0.89
R8345:Pum2 UTSW 12 8,759,454 (GRCm39) missense probably damaging 0.99
R8418:Pum2 UTSW 12 8,760,245 (GRCm39) missense possibly damaging 0.87
R8802:Pum2 UTSW 12 8,778,726 (GRCm39) nonsense probably null
R9039:Pum2 UTSW 12 8,794,430 (GRCm39) missense probably damaging 1.00
R9207:Pum2 UTSW 12 8,763,904 (GRCm39) missense probably damaging 0.98
R9366:Pum2 UTSW 12 8,783,344 (GRCm39) missense probably benign 0.02
R9700:Pum2 UTSW 12 8,779,044 (GRCm39) missense probably damaging 0.97
X0039:Pum2 UTSW 12 8,778,944 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TTAATGGCTCCAACACCTGTC -3'
(R):5'- CACTGAGAGCTGAGCCTATAGC -3'

Sequencing Primer
(F):5'- TGGCTCCAACACCTGTCTTAATAAG -3'
(R):5'- GCCTATAGCAGCTCCTAAAGAG -3'
Posted On 2019-05-15