Incidental Mutation 'R6735:Prpf40b'
ID 530203
Institutional Source Beutler Lab
Gene Symbol Prpf40b
Ensembl Gene ENSMUSG00000023007
Gene Name pre-mRNA processing factor 40B
Synonyms 2610317D23Rik
MMRRC Submission 044853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R6735 (G1)
Quality Score 195.009
Status Validated
Chromosome 15
Chromosomal Location 99192968-99214899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99212784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 627 (R627W)
Ref Sequence ENSEMBL: ENSMUSP00000023745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000118287] [ENSMUST00000120633] [ENSMUST00000145482] [ENSMUST00000136980] [ENSMUST00000150636] [ENSMUST00000126955]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023745
AA Change: R627W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: R627W

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 693 776 N/A INTRINSIC
low complexity region 777 796 N/A INTRINSIC
low complexity region 809 825 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081224
SMART Domains Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 227 2.99e-88 SMART
Drf_FH3 230 421 6.1e-71 SMART
low complexity region 448 497 N/A INTRINSIC
FH2 510 944 9.85e-141 SMART
low complexity region 960 975 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088233
SMART Domains Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118287
AA Change: R627W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: R627W

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 694 777 N/A INTRINSIC
low complexity region 778 797 N/A INTRINSIC
low complexity region 810 826 N/A INTRINSIC
low complexity region 845 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120633
SMART Domains Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
low complexity region 1011 1026 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124275
Predicted Effect probably damaging
Transcript: ENSMUST00000145482
AA Change: R627W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: R627W

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 693 708 N/A INTRINSIC
low complexity region 719 780 N/A INTRINSIC
low complexity region 781 800 N/A INTRINSIC
low complexity region 813 829 N/A INTRINSIC
low complexity region 848 869 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000134034
AA Change: R9W
SMART Domains Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
AA Change: R9W

DomainStartEndE-ValueType
Pfam:FF 11 62 2.2e-7 PFAM
low complexity region 77 92 N/A INTRINSIC
low complexity region 103 164 N/A INTRINSIC
low complexity region 165 184 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 232 253 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136980
AA Change: R614W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: R614W

DomainStartEndE-ValueType
low complexity region 1 18 N/A INTRINSIC
low complexity region 22 46 N/A INTRINSIC
low complexity region 50 81 N/A INTRINSIC
WW 87 119 7.6e-9 SMART
WW 128 160 1.75e-8 SMART
low complexity region 176 206 N/A INTRINSIC
low complexity region 249 261 N/A INTRINSIC
FF 270 324 2.36e-14 SMART
FF 404 464 6.94e-3 SMART
FF 484 544 1.41e0 SMART
FF 613 669 3.41e-11 SMART
low complexity region 681 764 N/A INTRINSIC
low complexity region 765 784 N/A INTRINSIC
low complexity region 797 813 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130575
Predicted Effect probably benign
Transcript: ENSMUST00000150636
SMART Domains Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
Pfam:FF 1 52 1.2e-7 PFAM
low complexity region 67 82 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138036
Predicted Effect probably benign
Transcript: ENSMUST00000126955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150641
Meta Mutation Damage Score 0.4298 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,274 (GRCm39) T265A probably benign Het
Adap1 A T 5: 139,278,900 (GRCm39) Y127N probably damaging Het
Alg8 T C 7: 97,032,189 (GRCm39) F246S probably benign Het
Alpk1 A G 3: 127,518,098 (GRCm39) Y68H probably damaging Het
Arhgef5 T C 6: 43,251,966 (GRCm39) S906P probably benign Het
C9 A T 15: 6,519,387 (GRCm39) D408V probably benign Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Cpeb4 T A 11: 31,874,700 (GRCm39) Y174N probably benign Het
Enpp3 A G 10: 24,683,351 (GRCm39) Y289H probably damaging Het
Erbin A T 13: 104,020,718 (GRCm39) D80E probably damaging Het
Fgd6 A T 10: 93,910,182 (GRCm39) E829V possibly damaging Het
Foxn2 T G 17: 88,794,223 (GRCm39) S387A probably benign Het
Hapstr1 T A 16: 8,673,764 (GRCm39) H230Q probably benign Het
Irag2 T C 6: 145,106,619 (GRCm39) L201S probably damaging Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Lhx6 T G 2: 35,981,390 (GRCm39) D67A probably damaging Het
Lmbr1l A T 15: 98,807,121 (GRCm39) M220K probably damaging Het
Macroh2a2 A G 10: 61,577,046 (GRCm39) I274T probably damaging Het
Naa35 T C 13: 59,773,378 (GRCm39) L111P probably damaging Het
Notch2 T A 3: 98,041,902 (GRCm39) V1307E probably damaging Het
Nts T A 10: 102,320,859 (GRCm39) M77L probably benign Het
Or5m11b A C 2: 85,805,778 (GRCm39) S64R possibly damaging Het
Pigz A G 16: 31,764,361 (GRCm39) N473S probably benign Het
Pkd2 A G 5: 104,628,195 (GRCm39) D423G probably damaging Het
Plac8 A G 5: 100,710,485 (GRCm39) probably null Het
Ppp2r2b T C 18: 42,821,653 (GRCm39) probably null Het
Proc T C 18: 32,256,701 (GRCm39) N322S probably benign Het
Psd3 A G 8: 68,573,398 (GRCm39) probably null Het
Safb A G 17: 56,892,169 (GRCm39) probably benign Het
Scnn1g A G 7: 121,341,486 (GRCm39) D216G probably benign Het
Septin7 A G 9: 25,215,048 (GRCm39) E345G possibly damaging Het
Sult2a5 A T 7: 13,398,983 (GRCm39) K197* probably null Het
Suv39h1 C A X: 7,929,138 (GRCm39) R397L probably damaging Homo
Thbs4 T A 13: 92,891,674 (GRCm39) M814L possibly damaging Het
Tmem14a T A 1: 21,299,805 (GRCm39) probably benign Het
Tmprss11d C A 5: 86,457,159 (GRCm39) A167S probably damaging Het
Ttn C A 2: 76,629,252 (GRCm39) C14362F probably damaging Het
Usp15 T C 10: 123,004,272 (GRCm39) I161V possibly damaging Het
Vmn1r67 T C 7: 10,181,138 (GRCm39) L134P probably damaging Het
Wdr74 A G 19: 8,713,586 (GRCm39) E73G possibly damaging Het
Zbtb49 A T 5: 38,358,402 (GRCm39) M617K possibly damaging Het
Zc3h3 G A 15: 75,628,483 (GRCm39) T937I probably benign Het
Zeb2 C T 2: 45,000,028 (GRCm39) V25M probably null Het
Zfp108 T C 7: 23,961,197 (GRCm39) F596S probably damaging Het
Zfyve1 T A 12: 83,641,618 (GRCm39) N13Y possibly damaging Het
Zswim2 T C 2: 83,754,105 (GRCm39) D185G probably benign Het
Other mutations in Prpf40b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Prpf40b APN 15 99,214,012 (GRCm39) missense probably benign 0.04
IGL00821:Prpf40b APN 15 99,214,382 (GRCm39) missense probably benign 0.04
IGL00949:Prpf40b APN 15 99,204,419 (GRCm39) missense probably benign 0.00
IGL01621:Prpf40b APN 15 99,207,926 (GRCm39) unclassified probably benign
IGL01816:Prpf40b APN 15 99,213,099 (GRCm39) missense probably damaging 1.00
IGL01878:Prpf40b APN 15 99,204,413 (GRCm39) missense possibly damaging 0.84
IGL01886:Prpf40b APN 15 99,202,328 (GRCm39) missense unknown
IGL02025:Prpf40b APN 15 99,212,469 (GRCm39) missense probably damaging 1.00
IGL02440:Prpf40b APN 15 99,204,747 (GRCm39) missense probably damaging 0.98
R0101:Prpf40b UTSW 15 99,204,681 (GRCm39) splice site probably benign
R0284:Prpf40b UTSW 15 99,214,274 (GRCm39) splice site probably benign
R0356:Prpf40b UTSW 15 99,203,080 (GRCm39) splice site probably null
R0602:Prpf40b UTSW 15 99,202,352 (GRCm39) missense unknown
R0632:Prpf40b UTSW 15 99,214,170 (GRCm39) missense probably benign 0.04
R1220:Prpf40b UTSW 15 99,214,229 (GRCm39) missense probably benign 0.10
R1660:Prpf40b UTSW 15 99,203,442 (GRCm39) missense probably damaging 1.00
R2224:Prpf40b UTSW 15 99,201,172 (GRCm39) start gained probably benign
R2245:Prpf40b UTSW 15 99,203,047 (GRCm39) intron probably benign
R2342:Prpf40b UTSW 15 99,204,049 (GRCm39) missense probably damaging 0.98
R4019:Prpf40b UTSW 15 99,214,357 (GRCm39) missense probably benign 0.10
R4449:Prpf40b UTSW 15 99,212,544 (GRCm39) missense probably damaging 1.00
R4622:Prpf40b UTSW 15 99,214,197 (GRCm39) missense probably benign 0.01
R4869:Prpf40b UTSW 15 99,207,726 (GRCm39) intron probably benign
R5960:Prpf40b UTSW 15 99,212,785 (GRCm39) missense probably damaging 1.00
R6734:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R6776:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R6783:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R7025:Prpf40b UTSW 15 99,204,281 (GRCm39) nonsense probably null
R7544:Prpf40b UTSW 15 99,203,899 (GRCm39) missense probably benign 0.01
R7733:Prpf40b UTSW 15 99,206,224 (GRCm39) critical splice donor site probably null
R8133:Prpf40b UTSW 15 99,202,319 (GRCm39) missense unknown
R8193:Prpf40b UTSW 15 99,201,949 (GRCm39) missense unknown
R8248:Prpf40b UTSW 15 99,214,166 (GRCm39) missense unknown
R8669:Prpf40b UTSW 15 99,201,228 (GRCm39) start codon destroyed probably null
R8670:Prpf40b UTSW 15 99,207,621 (GRCm39) missense probably damaging 0.96
R9191:Prpf40b UTSW 15 99,202,064 (GRCm39) missense probably null
X0019:Prpf40b UTSW 15 99,205,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGTGGTCCTCTCACTTAC -3'
(R):5'- GAGAGCACTGCTGATCAGAC -3'

Sequencing Primer
(F):5'- GTGGTCCTCTCACTTACCCCAATG -3'
(R):5'- ACTGCTGATCAGACCAGGC -3'
Posted On 2018-08-01