Incidental Mutation 'R7980:Pum2'
ID 651168
Institutional Source Beutler Lab
Gene Symbol Pum2
Ensembl Gene ENSMUSG00000020594
Gene Name pumilio RNA-binding family member 2
Synonyms Pumm2, 5730503J23Rik
MMRRC Submission 046021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7980 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 8724134-8802581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8763904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 283 (Y283H)
Ref Sequence ENSEMBL: ENSMUSP00000131074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020915] [ENSMUST00000111122] [ENSMUST00000111123] [ENSMUST00000163569] [ENSMUST00000163730] [ENSMUST00000165293] [ENSMUST00000166965] [ENSMUST00000168361] [ENSMUST00000169089] [ENSMUST00000169750] [ENSMUST00000170037] [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: Y283H

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: Y283H

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: Y283H

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: Y283H

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: Y283H

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: Y283H

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 probably damaging
Transcript: ENSMUST00000163569
AA Change: Y283H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: Y283H

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: ENSMUST00000163730
Predicted Effect probably benign
Transcript: ENSMUST00000165293
Predicted Effect probably benign
Transcript: ENSMUST00000166965
Predicted Effect probably damaging
Transcript: ENSMUST00000168361
AA Change: Y283H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: Y283H

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: Y283H

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: Y283H

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 probably benign
Transcript: ENSMUST00000169750
SMART Domains Protein: ENSMUSP00000126876
Gene: ENSMUSG00000020594

DomainStartEndE-ValueType
low complexity region 193 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170037
Predicted Effect
SMART Domains Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: Y144H

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
low complexity region 131 152 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
low complexity region 214 234 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178015
AA Change: Y283H

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: Y283H

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: 98.9%
Validation Efficiency 100% (87/87)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik A G 4: 88,786,315 (GRCm39) L101P unknown Het
Actn3 G A 19: 4,917,950 (GRCm39) P339L probably damaging Het
Adamts12 G A 15: 11,263,423 (GRCm39) C595Y probably damaging Het
Adrm1b T A 3: 92,336,406 (GRCm39) K99* probably null Het
Agl A T 3: 116,585,830 (GRCm39) N99K probably benign Het
Aplp1 A T 7: 30,134,992 (GRCm39) M592K probably benign Het
Arhgef11 C T 3: 87,605,297 (GRCm39) R251C probably benign Het
Arhgef12 A T 9: 42,882,595 (GRCm39) C1416* probably null Het
Asah1 A G 8: 41,807,067 (GRCm39) M119T Het
Asxl2 A T 12: 3,546,630 (GRCm39) Q471H probably damaging Het
Atp6v1c2 A T 12: 17,371,613 (GRCm39) D61E probably damaging Het
Btbd16 C A 7: 130,426,097 (GRCm39) P520Q probably damaging Het
Cacnb2 A G 2: 14,609,326 (GRCm39) E22G probably benign Het
Catspere2 G T 1: 177,830,610 (GRCm39) probably null Het
Cdc25a T A 9: 109,708,949 (GRCm39) D124E probably damaging Het
Cdc42se1 A T 3: 95,139,166 (GRCm39) probably benign Het
Cdcp3 T A 7: 130,836,506 (GRCm39) V400E probably damaging Het
Cfap54 T C 10: 92,817,922 (GRCm39) K1265E possibly damaging Het
Chaf1b A G 16: 93,681,415 (GRCm39) H11R probably damaging Het
Chil4 T C 3: 106,110,060 (GRCm39) K345E probably damaging Het
Cntnap1 A G 11: 101,079,719 (GRCm39) I1283V probably benign Het
Dagla C T 19: 10,229,406 (GRCm39) C618Y possibly damaging Het
Ddx19b C T 8: 111,738,077 (GRCm39) V224M possibly damaging Het
Dohh C T 10: 81,223,726 (GRCm39) R260* probably null Het
Dsg3 A T 18: 20,664,417 (GRCm39) N472Y probably benign Het
Duox1 T A 2: 122,177,801 (GRCm39) N1528K possibly damaging Het
Eml6 A G 11: 29,783,205 (GRCm39) Y559H probably damaging Het
Esp4 A G 17: 40,913,192 (GRCm39) T20A possibly damaging Het
Fbxw21 T C 9: 108,985,639 (GRCm39) probably null Het
Gcc2 T A 10: 58,114,574 (GRCm39) probably null Het
Grin3b C T 10: 79,811,559 (GRCm39) A715V possibly damaging Het
Gxylt2 A T 6: 100,764,170 (GRCm39) probably null Het
Hspa4 A T 11: 53,171,404 (GRCm39) S267T probably benign Het
Hspd1 A G 1: 55,117,785 (GRCm39) V491A possibly damaging Het
Idua A G 5: 108,828,486 (GRCm39) E280G probably benign Het
Ift172 T A 5: 31,417,988 (GRCm39) E1267V probably benign Het
Itsn1 T A 16: 91,702,182 (GRCm39) V1448E unknown Het
Kat6a A G 8: 23,416,432 (GRCm39) M647V possibly damaging Het
Kcnq4 A T 4: 120,568,494 (GRCm39) D407E probably benign Het
Kif1b A T 4: 149,354,378 (GRCm39) F221I probably damaging Het
Lama2 G T 10: 27,239,609 (GRCm39) D315E probably damaging Het
Lrrn4 G A 2: 132,720,096 (GRCm39) L235F probably damaging Het
Map2k6 T A 11: 110,390,210 (GRCm39) I248N Het
Mgat5 A G 1: 127,407,248 (GRCm39) Q638R probably benign Het
Mia2 A G 12: 59,155,651 (GRCm39) K455E probably damaging Het
Mrs2 A G 13: 25,204,221 (GRCm39) C3R possibly damaging Het
Nprl3 A G 11: 32,187,357 (GRCm39) I325T probably damaging Het
Nr1h3 T A 2: 91,021,229 (GRCm39) Q186L probably benign Het
Oas1f A G 5: 120,989,538 (GRCm39) E159G probably benign Het
Or2g7 A T 17: 38,378,412 (GRCm39) M117L possibly damaging Het
Or4k15b T A 14: 50,272,252 (GRCm39) S203C probably damaging Het
Or52ae7 T A 7: 103,119,504 (GRCm39) F86Y probably damaging Het
Or52e19b T A 7: 103,032,970 (GRCm39) I80F probably damaging Het
Or52s1b T A 7: 102,822,242 (GRCm39) S201C probably damaging Het
Or5m12 A G 2: 85,734,942 (GRCm39) F152S probably benign Het
Or8g4 T C 9: 39,662,417 (GRCm39) I245T probably damaging Het
Or9a4 T A 6: 40,549,154 (GRCm39) I278N probably benign Het
Pbxip1 G C 3: 89,353,648 (GRCm39) S267T probably benign Het
Pcdhga10 A T 18: 37,881,645 (GRCm39) I469F possibly damaging Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Plcd4 A C 1: 74,604,464 (GRCm39) N788T probably benign Het
Pms2 T A 5: 143,867,909 (GRCm39) W838R probably damaging Het
Pnpla6 T A 8: 3,586,562 (GRCm39) V926D probably damaging Het
Pros1 A T 16: 62,748,516 (GRCm39) H663L possibly damaging Het
Prss55 T C 14: 64,316,138 (GRCm39) probably null Het
Rad21 A G 15: 51,828,422 (GRCm39) S549P probably benign Het
Sap130 T A 18: 31,781,182 (GRCm39) probably null Het
Sertad4 C T 1: 192,529,189 (GRCm39) S209N probably benign Het
Sez6 A G 11: 77,844,668 (GRCm39) T164A probably benign Het
Slc22a28 C T 19: 8,078,837 (GRCm39) R284Q probably damaging Het
Slco4c1 T C 1: 96,764,650 (GRCm39) K474R probably benign Het
Stx5a T C 19: 8,719,802 (GRCm39) S56P probably damaging Het
Svopl T C 6: 37,991,744 (GRCm39) T379A probably damaging Het
Sypl2 A G 3: 108,125,008 (GRCm39) F118L probably damaging Het
Tfrc G A 16: 32,435,967 (GRCm39) V215M probably benign Het
Thnsl2 T C 6: 71,115,652 (GRCm39) N185S probably damaging Het
Tmem104 T C 11: 115,134,580 (GRCm39) I372T probably damaging Het
Tnfaip6 G A 2: 51,941,070 (GRCm39) G204S probably damaging Het
Trim12a C T 7: 103,953,335 (GRCm39) E259K probably benign Het
Tubgcp6 G A 15: 88,986,232 (GRCm39) R1436C probably benign Het
Tyrp1 C T 4: 80,758,864 (GRCm39) L246F probably damaging Het
Ubr4 G T 4: 139,145,717 (GRCm39) V216F Het
Unc5a A G 13: 55,147,319 (GRCm39) I409V possibly damaging Het
Vmn1r15 T C 6: 57,235,399 (GRCm39) L89P probably damaging Het
Vmn1r32 A T 6: 66,530,305 (GRCm39) L157* probably null Het
Zcchc24 A G 14: 25,720,185 (GRCm39) Y160H probably damaging Het
Zfp184 A T 13: 22,144,376 (GRCm39) H694L probably damaging Het
Zfp345 A C 2: 150,314,723 (GRCm39) Y271* probably null Het
Zranb3 T C 1: 128,030,671 (GRCm39) probably benign 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
R7135:Pum2 UTSW 12 8,778,952 (GRCm39) missense possibly damaging 0.80
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
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'- TATGACTCACTAGGAATGATAAGGG -3'
(R):5'- GTAATCTGTTACTACTAACCTCAGAGG -3'

Sequencing Primer
(F):5'- CTAGGAATGATAAGGGTTTTGACAC -3'
(R):5'- CCTCAGAGGTGTTTCAGAAAGTAAC -3'
Posted On 2020-09-15