Incidental Mutation 'R9645:Pum3'
ID 726256
Institutional Source Beutler Lab
Gene Symbol Pum3
Ensembl Gene ENSMUSG00000041360
Gene Name pumilio RNA-binding family member 3
Synonyms 1110069H02Rik, D19Bwg1357e
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R9645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 27366098-27407225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27403412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 30 (S30P)
Ref Sequence ENSEMBL: ENSMUSP00000075573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076219
AA Change: S30P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: S30P

DomainStartEndE-ValueType
low complexity region 106 121 N/A INTRINSIC
Pumilio 165 200 1.8e-3 SMART
Pumilio 201 236 1.36e-3 SMART
Pumilio 237 273 3.72e0 SMART
Pumilio 350 385 2.54e-3 SMART
Pumilio 386 422 7.89e0 SMART
Pumilio 424 460 5.5e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the evolutionarily conserved Pumilio and Fem-3 mRNA-binding factor family of proteins, which are characterized by tandem 36 amino acid pumilio homolog domains and which function in diverse biological processes. This protein belongs to a group of atypical Pumilio and Fem-3 mRNA-binding factor proteins, whose members are distinguished from other Pumilio and Fem-3 mRNA-binding factor proteins by a novel protein fold with 11 pumilio homolog domains and an ability to bind to DNA and single- and double-stranded RNA without sequence specificity. In mouse, lower levels of gene expression have been correlated with increased testicular germ cell tumors. A pseudogene of this gene is found on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,644,793 (GRCm39) V226A probably benign Het
Acan G T 7: 78,749,653 (GRCm39) V1475F probably benign Het
Acin1 T A 14: 54,901,913 (GRCm39) R626S probably benign Het
Aff3 T C 1: 38,249,121 (GRCm39) K662R probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ano9 T G 7: 140,687,388 (GRCm39) N309T probably benign Het
Ap3d1 G A 10: 80,545,062 (GRCm39) S1092L probably benign Het
B4galt7 C T 13: 55,756,556 (GRCm39) H257Y probably damaging Het
BC051665 G T 13: 60,932,545 (GRCm39) Q47K possibly damaging Het
Brip1 A G 11: 85,952,512 (GRCm39) F1090L probably benign Het
Cabin1 A G 10: 75,494,543 (GRCm39) V1612A probably benign Het
Ccar1 A T 10: 62,602,369 (GRCm39) D434E probably benign Het
Ccdc15 T C 9: 37,227,083 (GRCm39) D297G probably benign Het
Celsr3 C A 9: 108,704,691 (GRCm39) Y391* probably null Het
Cfap52 A G 11: 67,837,179 (GRCm39) I194T possibly damaging Het
Ctif T C 18: 75,757,352 (GRCm39) E67G probably benign Het
Cxcr6 T C 9: 123,639,151 (GRCm39) F58L possibly damaging Het
Cyp2c69 T C 19: 39,869,593 (GRCm39) E142G probably damaging Het
Dnah6 T A 6: 73,115,750 (GRCm39) R1549S possibly damaging Het
Duxf3 A T 10: 58,066,803 (GRCm39) H75Q probably benign Het
Ehbp1 A T 11: 22,051,052 (GRCm39) I500N probably damaging Het
F13a1 A T 13: 37,082,154 (GRCm39) S517T probably benign Het
Fbln7 C T 2: 128,719,316 (GRCm39) R38C probably damaging Het
Fn1 T C 1: 71,667,629 (GRCm39) N788S probably benign Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Gal3st2b T C 1: 93,866,328 (GRCm39) S10P probably damaging Het
Gm6899 G A 11: 26,543,592 (GRCm39) C53Y unknown Het
Hps3 T C 3: 20,084,831 (GRCm39) E119G probably benign Het
Impg2 A G 16: 56,038,767 (GRCm39) E135G probably damaging Het
Kalrn G A 16: 34,032,583 (GRCm39) T1155M probably benign Het
Kcna6 G A 6: 126,716,022 (GRCm39) A289V probably benign Het
Kcnh5 T C 12: 75,134,191 (GRCm39) M453V probably benign Het
Krt222 A G 11: 99,131,320 (GRCm39) V75A possibly damaging Het
Lmtk3 A T 7: 45,450,431 (GRCm39) T1432S unknown Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltbp3 C G 19: 5,802,099 (GRCm39) N758K probably damaging Het
Map6d1 T A 16: 20,055,377 (GRCm39) H153L possibly damaging Het
Mefv A G 16: 3,528,782 (GRCm39) L583P probably damaging Het
Mrps28 T C 3: 8,867,389 (GRCm39) T160A probably damaging Het
Mtcl2 T C 2: 156,869,390 (GRCm39) K1082E probably damaging Het
Muc6 T C 7: 141,217,783 (GRCm39) T2297A possibly damaging Het
Mx1 G T 16: 97,253,409 (GRCm39) D338E probably benign Het
Myom1 G A 17: 71,399,204 (GRCm39) R1120H probably benign Het
Nif3l1 T C 1: 58,487,074 (GRCm39) F87L probably benign Het
Or1e35 T A 11: 73,797,713 (GRCm39) M202L probably benign Het
Or4p22 T C 2: 88,317,373 (GRCm39) V99A possibly damaging Het
Pex10 T A 4: 155,153,264 (GRCm39) L111Q probably damaging Het
Phf1 T C 17: 27,154,130 (GRCm39) probably null Het
Pigp A T 16: 94,166,278 (GRCm39) Y143* probably null Het
Pou2af2 A G 9: 51,229,579 (GRCm39) probably null Het
Prrc2a A G 17: 35,381,176 (GRCm39) probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Rab12 A G 17: 66,826,421 (GRCm39) S97P probably damaging Het
Rigi T C 4: 40,220,437 (GRCm39) E482G possibly damaging Het
Ros1 A G 10: 51,948,148 (GRCm39) probably null Het
Scp2 A T 4: 107,948,519 (GRCm39) Y197N probably benign Het
Serpinb10 T C 1: 107,474,488 (GRCm39) F217L possibly damaging Het
Shank3 T G 15: 89,409,453 (GRCm39) M604R possibly damaging Het
Slc22a29 A G 19: 8,184,488 (GRCm39) S238P probably benign Het
Smarcc1 A G 9: 109,986,410 (GRCm39) D237G probably damaging Het
Stag3 T C 5: 138,299,701 (GRCm39) S871P possibly damaging Het
Tmem132d A G 5: 128,346,075 (GRCm39) F149S probably damaging Het
Tmem25 C T 9: 44,706,515 (GRCm39) E333K Het
Togaram1 T A 12: 65,066,082 (GRCm39) Y1695* probably null Het
Tox3 G A 8: 90,984,574 (GRCm39) P202S probably damaging Het
Trim34b T A 7: 103,980,474 (GRCm39) N187K probably benign Het
Vcan A G 13: 89,841,081 (GRCm39) S1488P probably benign Het
Vps26a A C 10: 62,305,791 (GRCm39) V124G probably benign Het
Vps50 T G 6: 3,516,706 (GRCm39) S63A possibly damaging Het
Wbp4 T A 14: 79,707,553 (GRCm39) E186V possibly damaging Het
Zfp52 A G 17: 21,781,937 (GRCm39) D595G possibly damaging Het
Zfr2 C A 10: 81,084,252 (GRCm39) S1* probably null Het
Other mutations in Pum3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Pum3 APN 19 27,399,758 (GRCm39) missense probably damaging 0.96
IGL02368:Pum3 APN 19 27,403,357 (GRCm39) missense probably benign 0.00
IGL03036:Pum3 APN 19 27,398,713 (GRCm39) missense probably damaging 0.96
IGL03177:Pum3 APN 19 27,367,612 (GRCm39) missense probably benign 0.29
R0242:Pum3 UTSW 19 27,400,155 (GRCm39) splice site probably benign
R1480:Pum3 UTSW 19 27,376,310 (GRCm39) missense probably benign 0.04
R2860:Pum3 UTSW 19 27,397,525 (GRCm39) splice site probably benign
R4417:Pum3 UTSW 19 27,400,116 (GRCm39) missense probably damaging 0.99
R4576:Pum3 UTSW 19 27,393,308 (GRCm39) missense probably benign 0.32
R5145:Pum3 UTSW 19 27,377,169 (GRCm39) missense probably damaging 1.00
R5439:Pum3 UTSW 19 27,389,659 (GRCm39) missense probably benign 0.27
R5473:Pum3 UTSW 19 27,396,248 (GRCm39) missense probably damaging 0.99
R5733:Pum3 UTSW 19 27,398,695 (GRCm39) critical splice donor site probably null
R5964:Pum3 UTSW 19 27,397,451 (GRCm39) missense probably damaging 0.96
R6516:Pum3 UTSW 19 27,403,408 (GRCm39) missense probably benign
R7184:Pum3 UTSW 19 27,403,412 (GRCm39) missense probably benign 0.03
R7216:Pum3 UTSW 19 27,401,625 (GRCm39) missense probably damaging 1.00
R7376:Pum3 UTSW 19 27,371,728 (GRCm39) missense probably benign 0.00
R7390:Pum3 UTSW 19 27,401,642 (GRCm39) missense probably benign 0.11
R7761:Pum3 UTSW 19 27,404,492 (GRCm39) missense probably benign
R7881:Pum3 UTSW 19 27,373,728 (GRCm39) nonsense probably null
R7991:Pum3 UTSW 19 27,389,620 (GRCm39) missense possibly damaging 0.93
R8300:Pum3 UTSW 19 27,399,773 (GRCm39) missense probably benign 0.03
R8790:Pum3 UTSW 19 27,394,199 (GRCm39) missense probably damaging 1.00
R8847:Pum3 UTSW 19 27,398,713 (GRCm39) missense probably damaging 0.96
R8903:Pum3 UTSW 19 27,397,457 (GRCm39) missense possibly damaging 0.48
R9042:Pum3 UTSW 19 27,399,791 (GRCm39) missense probably damaging 1.00
R9401:Pum3 UTSW 19 27,376,336 (GRCm39) missense probably benign
R9488:Pum3 UTSW 19 27,394,188 (GRCm39) missense probably damaging 1.00
X0009:Pum3 UTSW 19 27,400,102 (GRCm39) nonsense probably null
X0063:Pum3 UTSW 19 27,403,194 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGAATTTCCGCTTCTTGCTG -3'
(R):5'- TTCTGGGGCTACATCACTAGTC -3'

Sequencing Primer
(F):5'- CGCTTCTTGCTGAATTTATTTGC -3'
(R):5'- GGGGCTACATCACTAGTCTATATTGC -3'
Posted On 2022-09-12