Incidental Mutation 'R6508:Pum2'
ID 524015
Institutional Source Beutler Lab
Gene Symbol Pum2
Ensembl Gene ENSMUSG00000020594
Gene Name pumilio RNA-binding family member 2
Synonyms Pumm2, 5730503J23Rik
MMRRC Submission 044638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 8724134-8802581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8798861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 991 (Y991H)
Ref Sequence ENSEMBL: ENSMUSP00000106752 (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
AA Change: Y907H

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: Y907H

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
AA Change: Y991H

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: Y991H

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
AA Change: Y991H

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: Y991H

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: ENSMUST00000163569
AA Change: Y993H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: Y993H

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 benign
Transcript: ENSMUST00000168361
AA Change: Y993H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: Y993H

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
AA Change: Y912H

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: Y912H

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
AA Change: Y912H

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: Y912H

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 G A 4: 144,291,590 (GRCm39) R39* probably null Het
Brca2 A T 5: 150,460,058 (GRCm39) E444D possibly damaging Het
Camkk2 G T 5: 122,884,382 (GRCm39) N346K probably damaging Het
Car4 C A 11: 84,856,469 (GRCm39) D252E possibly damaging Het
Chd1 A G 17: 15,958,895 (GRCm39) K649R probably benign Het
Col12a1 A G 9: 79,557,231 (GRCm39) Y1966H probably damaging Het
Crppa C T 12: 36,476,298 (GRCm39) A180V possibly damaging Het
Cts6 T A 13: 61,344,221 (GRCm39) H277L probably damaging Het
Dcc G T 18: 71,439,144 (GRCm39) P1246Q probably damaging Het
Dlg5 G A 14: 24,188,774 (GRCm39) T1739I probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Entpd7 G A 19: 43,679,525 (GRCm39) R26H probably damaging Het
Fanci A G 7: 79,093,516 (GRCm39) K1008E probably damaging Het
Htr2b T C 1: 86,030,186 (GRCm39) T170A possibly damaging Het
Irgm2 A G 11: 58,110,327 (GRCm39) E18G probably benign Het
Kdm1a A T 4: 136,281,621 (GRCm39) V630E probably damaging Het
Keap1 G A 9: 21,143,010 (GRCm39) T501I possibly damaging Het
L3mbtl3 T A 10: 26,194,325 (GRCm39) H424L unknown Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Macf1 T A 4: 123,363,535 (GRCm39) D3364V probably damaging Het
Map3k20 G A 2: 72,272,253 (GRCm39) G794S probably benign Het
Mcat T C 15: 83,433,452 (GRCm39) Q34R probably benign Het
Mettl4 T C 17: 95,051,373 (GRCm39) E148G probably damaging Het
Mgat3 T C 15: 80,096,225 (GRCm39) S351P possibly damaging Het
Mllt1 A T 17: 57,234,054 (GRCm39) I44N probably damaging Het
Mlxipl G T 5: 135,157,474 (GRCm39) A337S probably benign Het
Naip1 A G 13: 100,572,973 (GRCm39) F254L probably damaging Het
Obscn A T 11: 58,944,973 (GRCm39) probably null Het
Or10q1 C T 19: 13,726,718 (GRCm39) P83S probably damaging Het
Pcdh12 G A 18: 38,414,390 (GRCm39) R912* probably null Het
Pcdh17 A G 14: 84,685,419 (GRCm39) N629D probably damaging Het
Pcnx1 T C 12: 81,959,479 (GRCm39) I170T probably damaging Het
Pgr A G 9: 8,956,290 (GRCm39) Y746C probably damaging Het
Pramel29 A T 4: 143,934,171 (GRCm39) L312* probably null Het
Rcc1l A T 5: 134,198,077 (GRCm39) V185D probably damaging Het
Scarb1 A T 5: 125,381,389 (GRCm39) S52T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Spata4 T C 8: 55,053,887 (GRCm39) S18P probably benign Het
Stard13 G A 5: 150,986,754 (GRCm39) T134I probably benign Het
Tbc1d32 C T 10: 56,100,786 (GRCm39) C64Y probably damaging Het
Tll1 T G 8: 64,551,494 (GRCm39) I296L probably damaging Het
Tmem229b T G 12: 79,011,680 (GRCm39) T84P probably damaging Het
Ttn T C 2: 76,544,757 (GRCm39) T32782A possibly damaging Het
Vmn1r73 G A 7: 11,490,631 (GRCm39) V150I possibly damaging Het
Vmn2r80 T A 10: 79,030,290 (GRCm39) F705L 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
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'- AAGTTGTGTGTCCTACAGTACC -3'
(R):5'- GCGGACTAAACTACCCATGTG -3'

Sequencing Primer
(F):5'- GTGTGTCCTACAGTACCAATTTCTG -3'
(R):5'- GGACTAAACTACCCATGTGCTTTAAC -3'
Posted On 2018-06-22