Incidental Mutation 'R6250:Pum2'
ID 526458
Institutional Source Beutler Lab
Gene Symbol Pum2
Ensembl Gene ENSMUSG00000020594
Gene Name pumilio RNA-binding family member 2
Synonyms Pumm2, 5730503J23Rik
MMRRC Submission 044367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6250 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 8724134-8802581 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 8794755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020915] [ENSMUST00000111122] [ENSMUST00000111123] [ENSMUST00000163569] [ENSMUST00000165293] [ENSMUST00000168361] [ENSMUST00000169089] [ENSMUST00000178015]
AlphaFold Q80U58
Predicted Effect probably benign
Transcript: ENSMUST00000020915
SMART Domains Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594

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 probably benign
Transcript: ENSMUST00000111122
SMART Domains Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594

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 benign
Transcript: ENSMUST00000111123
SMART Domains Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594

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 null
Transcript: ENSMUST00000163569
SMART Domains Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594

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 probably null
Transcript: ENSMUST00000168361
SMART Domains Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594

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: ENSMUST00000169089
SMART Domains Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594

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: ENSMUST00000178015
SMART Domains Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594

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 noncoding transcript
Transcript: ENSMUST00000171608
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T C 2: 150,681,667 (GRCm39) Y241C probably damaging Het
Ak9 T C 10: 41,265,030 (GRCm39) V929A possibly damaging Het
Ap3s1 T C 18: 46,887,514 (GRCm39) F49S probably damaging Het
Atp9b T C 18: 80,799,736 (GRCm39) H801R probably benign Het
B430218F22Rik A G 13: 118,523,944 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,908,487 (GRCm39) L186* probably null Het
Cnbd1 T A 4: 19,098,255 (GRCm39) Q55L probably benign Het
Commd10 A G 18: 47,096,755 (GRCm39) E54G probably damaging Het
Cplx3 A G 9: 57,522,907 (GRCm39) V151A probably benign Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Disp2 A T 2: 118,621,247 (GRCm39) I660F probably damaging Het
Eef1a2 A G 2: 180,792,853 (GRCm39) F211L possibly damaging Het
Epb41 A T 4: 131,717,184 (GRCm39) F323L probably damaging Het
Eps8l3 A T 3: 107,797,781 (GRCm39) I403F probably benign Het
Ercc5 T A 1: 44,203,209 (GRCm39) V282D probably damaging Het
Faim A T 9: 98,874,176 (GRCm39) M1L probably benign Het
Fbxo24 A G 5: 137,619,543 (GRCm39) F111L probably damaging Het
Fcgbpl1 G A 7: 27,850,139 (GRCm39) G1195D probably damaging Het
Glrx A T 13: 75,988,229 (GRCm39) I48F probably damaging Het
Gucy2g A T 19: 55,205,856 (GRCm39) L668Q probably damaging Het
Hectd4 A G 5: 121,477,561 (GRCm39) D2828G possibly damaging Het
Hivep2 T C 10: 14,007,503 (GRCm39) V1367A probably benign Het
Hrob A G 11: 102,145,888 (GRCm39) T55A probably benign Het
Ipo13 A G 4: 117,769,351 (GRCm39) V147A possibly damaging Het
Jchain T C 5: 88,674,034 (GRCm39) T37A probably benign Het
Kif1b A G 4: 149,298,100 (GRCm39) V1034A probably benign Het
Krt25 T A 11: 99,211,989 (GRCm39) N216I probably damaging Het
Mfsd4b1 T C 10: 39,879,106 (GRCm39) S264G possibly damaging Het
Mxra8 G T 4: 155,925,546 (GRCm39) R82L possibly damaging Het
Nlrp1b A T 11: 71,072,625 (GRCm39) I406N probably benign Het
Or13c7 T C 4: 43,854,363 (GRCm39) L18P possibly damaging Het
Or2y11 A T 11: 49,442,711 (GRCm39) I46F probably damaging Het
Or5h23 G A 16: 58,906,195 (GRCm39) S217F probably damaging Het
Pak5 T C 2: 136,016,189 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,426 (GRCm39) R222G probably benign Het
Pik3cb A C 9: 98,976,651 (GRCm39) F149V probably benign Het
Plscr4 G A 9: 92,366,881 (GRCm39) R165Q possibly damaging Het
Ppp2r2a A T 14: 67,276,403 (GRCm39) V34E probably damaging Het
Prpf8 T G 11: 75,384,334 (GRCm39) S659R possibly damaging Het
Ptprd A G 4: 76,047,232 (GRCm39) S342P probably damaging Het
Ranbp3 T G 17: 56,984,208 (GRCm39) probably null Het
Rassf7 A G 7: 140,797,156 (GRCm39) E123G probably damaging Het
Rcor1 G T 12: 111,078,311 (GRCm39) A469S probably benign Het
Rcor3 G T 1: 191,785,196 (GRCm39) P524Q probably damaging Het
Rnf44 A T 13: 54,829,920 (GRCm39) probably null Het
Rtf1 T C 2: 119,505,658 (GRCm39) V37A unknown Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Setbp1 T C 18: 78,901,217 (GRCm39) T817A probably benign Het
Setd1a A G 7: 127,390,471 (GRCm39) E506G unknown Het
Slc30a8 G A 15: 52,198,545 (GRCm39) R330Q probably benign Het
Snx22 C A 9: 65,976,923 (GRCm39) E14* probably null Het
Spata31d1a A G 13: 59,849,615 (GRCm39) S838P possibly damaging Het
Sprr4 G T 3: 92,407,770 (GRCm39) Q11K unknown Het
Trpm3 A G 19: 22,887,418 (GRCm39) N839S probably benign Het
Vps9d1 T C 8: 123,974,947 (GRCm39) probably null Het
Vwa3b T C 1: 37,090,966 (GRCm39) probably null Het
Ythdf1 T C 2: 180,552,893 (GRCm39) T414A probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (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
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
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'- GTTGGGCAACAGTCAGGAAC -3'
(R):5'- CAAACGTAGGTCCTCCATGG -3'

Sequencing Primer
(F):5'- GAGCTTTCTAACTGCACAGTACTG -3'
(R):5'- TCCTCCATGGAGAGGCAGTG -3'
Posted On 2018-06-30