Incidental Mutation 'R6199:Prpf40a'
ID 503085
Institutional Source Beutler Lab
Gene Symbol Prpf40a
Ensembl Gene ENSMUSG00000061136
Gene Name pre-mRNA processing factor 40A
Synonyms 2810012K09Rik, FBP11, Fnbp3
MMRRC Submission 044339-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6199 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 53024714-53081450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53047927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 197 (M197V)
Ref Sequence ENSEMBL: ENSMUSP00000147599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000209508] [ENSMUST00000210789] [ENSMUST00000211102] [ENSMUST00000211712]
AlphaFold Q9R1C7
Predicted Effect probably benign
Transcript: ENSMUST00000076313
AA Change: M239V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: M239V

DomainStartEndE-ValueType
low complexity region 77 124 N/A INTRINSIC
WW 141 173 7.54e-13 SMART
WW 182 214 1.57e-10 SMART
low complexity region 272 294 N/A INTRINSIC
FF 389 443 1.32e-17 SMART
FF 456 515 4.22e1 SMART
FF 523 583 1.11e-10 SMART
FF 603 663 4.31e0 SMART
low complexity region 670 682 N/A INTRINSIC
FF 739 795 7.43e-12 SMART
low complexity region 802 879 N/A INTRINSIC
low complexity region 883 923 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125243
SMART Domains Protein: ENSMUSP00000117406
Gene: ENSMUSG00000061136

DomainStartEndE-ValueType
low complexity region 35 82 N/A INTRINSIC
WW 99 131 7.54e-13 SMART
WW 140 172 1.57e-10 SMART
low complexity region 230 252 N/A INTRINSIC
FF 347 401 1.32e-17 SMART
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000209508
Predicted Effect probably benign
Transcript: ENSMUST00000210789
AA Change: M197V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211102
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,407,887 (GRCm39) D206V possibly damaging Het
Ank2 T A 3: 126,797,655 (GRCm39) D685V probably damaging Het
Baz2b A G 2: 59,809,019 (GRCm39) S77P probably benign Het
Ccdc194 T C 8: 71,978,109 (GRCm39) N83D probably benign Het
Ceacam5 A T 7: 17,448,810 (GRCm39) T59S probably benign Het
Cemip2 G A 19: 21,822,186 (GRCm39) G1194S probably benign Het
Ces1e A C 8: 93,944,163 (GRCm39) F218L probably damaging Het
Cilk1 T C 9: 78,071,921 (GRCm39) V531A probably benign Het
Cps1 TGTCCATTGGTC TGTC 1: 67,201,774 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eftud2 A T 11: 102,730,883 (GRCm39) V843E probably damaging Het
Fuca2 G T 10: 13,381,783 (GRCm39) W232L probably damaging Het
Gdf7 T C 12: 8,348,832 (GRCm39) D155G unknown Het
Ggcx G T 6: 72,407,122 (GRCm39) V753F possibly damaging Het
Ghrhr A T 6: 55,356,173 (GRCm39) T89S probably benign Het
Gpr151 T C 18: 42,711,619 (GRCm39) K353R probably benign Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsdmc2 A G 15: 63,696,962 (GRCm39) I403T probably benign Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Insc A T 7: 114,390,401 (GRCm39) probably null Het
Izumo4 G A 10: 80,538,707 (GRCm39) G53D probably damaging Het
Ksr1 G A 11: 78,911,267 (GRCm39) P693S possibly damaging Het
Lgals4 G A 7: 28,535,317 (GRCm39) R27H probably damaging Het
Lpcat2b A G 5: 107,581,171 (GRCm39) R167G probably benign Het
Man1a C T 10: 53,890,552 (GRCm39) V288I possibly damaging Het
Map2 T G 1: 66,464,637 (GRCm39) S1676A probably damaging Het
Mbl1 G T 14: 40,875,572 (GRCm39) V9F unknown Het
Mrgprb8 T A 7: 48,039,051 (GRCm39) C241S probably benign Het
Mrpl2 T C 17: 46,960,012 (GRCm39) L227P probably damaging Het
Mthfd1 T A 12: 76,335,685 (GRCm39) V253E probably damaging Het
Mthfd1 A G 12: 76,350,454 (GRCm39) H464R probably damaging Het
Mug2 T A 6: 122,024,398 (GRCm39) M490K probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Notch1 A G 2: 26,359,911 (GRCm39) V1268A probably damaging Het
Or6b2b A T 1: 92,419,264 (GRCm39) I71N possibly damaging Het
Or8b12c C A 9: 37,716,177 (GRCm39) probably null Het
Pgm1 A T 4: 99,836,151 (GRCm39) I412F probably damaging Het
Plaur A T 7: 24,164,628 (GRCm39) Q44L possibly damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppm1h G A 10: 122,756,644 (GRCm39) V430M probably damaging Het
Prph A G 15: 98,954,713 (GRCm39) T35A probably benign Het
Prrc2c C T 1: 162,510,085 (GRCm39) G780S probably damaging Het
Ptchd3 T A 11: 121,721,908 (GRCm39) N260K probably benign Het
Ptprz1 A G 6: 23,002,470 (GRCm39) D1520G probably benign Het
Samd9l T A 6: 3,376,686 (GRCm39) I192L probably benign Het
Slc39a10 T C 1: 46,874,993 (GRCm39) D103G probably damaging Het
Smndc1 G A 19: 53,372,063 (GRCm39) T117M probably benign Het
Tesk2 A G 4: 116,649,367 (GRCm39) D159G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r108 A T 17: 20,682,644 (GRCm39) N853K probably benign Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Other mutations in Prpf40a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Prpf40a APN 2 53,040,700 (GRCm39) missense probably benign 0.00
IGL00533:Prpf40a APN 2 53,035,355 (GRCm39) missense probably damaging 1.00
IGL01099:Prpf40a APN 2 53,031,847 (GRCm39) missense probably benign 0.00
IGL02039:Prpf40a APN 2 53,034,815 (GRCm39) missense probably damaging 1.00
IGL02608:Prpf40a APN 2 53,036,165 (GRCm39) missense probably damaging 0.97
I1329:Prpf40a UTSW 2 53,066,407 (GRCm39) missense probably benign 0.01
R0284:Prpf40a UTSW 2 53,040,659 (GRCm39) missense probably damaging 1.00
R0401:Prpf40a UTSW 2 53,049,325 (GRCm39) missense probably damaging 0.99
R0544:Prpf40a UTSW 2 53,031,663 (GRCm39) unclassified probably benign
R0582:Prpf40a UTSW 2 53,035,704 (GRCm39) missense probably damaging 1.00
R1533:Prpf40a UTSW 2 53,035,852 (GRCm39) missense probably damaging 1.00
R2057:Prpf40a UTSW 2 53,034,851 (GRCm39) missense probably damaging 1.00
R4274:Prpf40a UTSW 2 53,036,184 (GRCm39) missense probably damaging 1.00
R4604:Prpf40a UTSW 2 53,032,035 (GRCm39) missense probably damaging 0.99
R4814:Prpf40a UTSW 2 53,080,032 (GRCm39) missense probably damaging 1.00
R4976:Prpf40a UTSW 2 53,034,861 (GRCm39) missense probably damaging 1.00
R5119:Prpf40a UTSW 2 53,034,861 (GRCm39) missense probably damaging 1.00
R5378:Prpf40a UTSW 2 53,035,888 (GRCm39) missense probably damaging 1.00
R5448:Prpf40a UTSW 2 53,046,938 (GRCm39) missense possibly damaging 0.63
R5449:Prpf40a UTSW 2 53,046,938 (GRCm39) missense possibly damaging 0.63
R5450:Prpf40a UTSW 2 53,046,938 (GRCm39) missense possibly damaging 0.63
R5500:Prpf40a UTSW 2 53,035,296 (GRCm39) missense probably benign 0.03
R5637:Prpf40a UTSW 2 53,046,746 (GRCm39) missense possibly damaging 0.59
R6052:Prpf40a UTSW 2 53,049,293 (GRCm39) missense probably benign 0.41
R6149:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6150:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6151:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6162:Prpf40a UTSW 2 53,049,317 (GRCm39) missense probably benign 0.01
R6200:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6207:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6254:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6266:Prpf40a UTSW 2 53,046,639 (GRCm39) missense probably benign 0.17
R6394:Prpf40a UTSW 2 53,034,890 (GRCm39) missense probably damaging 1.00
R6603:Prpf40a UTSW 2 53,042,975 (GRCm39) missense probably damaging 0.96
R6606:Prpf40a UTSW 2 53,041,763 (GRCm39) missense probably damaging 0.99
R6641:Prpf40a UTSW 2 53,031,638 (GRCm39) unclassified probably benign
R6929:Prpf40a UTSW 2 53,034,875 (GRCm39) missense possibly damaging 0.95
R7158:Prpf40a UTSW 2 53,042,565 (GRCm39) missense probably damaging 0.99
R7401:Prpf40a UTSW 2 53,046,959 (GRCm39) missense probably benign 0.01
R7675:Prpf40a UTSW 2 53,035,648 (GRCm39) missense possibly damaging 0.89
R7750:Prpf40a UTSW 2 53,041,757 (GRCm39) missense probably damaging 1.00
R7893:Prpf40a UTSW 2 53,046,853 (GRCm39) missense probably benign 0.24
R8027:Prpf40a UTSW 2 53,081,150 (GRCm39) missense probably benign 0.01
R8817:Prpf40a UTSW 2 53,042,971 (GRCm39) missense probably damaging 0.99
R8829:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R8964:Prpf40a UTSW 2 53,035,906 (GRCm39) missense probably damaging 1.00
R9101:Prpf40a UTSW 2 53,035,255 (GRCm39) missense probably benign 0.07
R9411:Prpf40a UTSW 2 53,029,200 (GRCm39) missense unknown
R9699:Prpf40a UTSW 2 53,035,735 (GRCm39) missense probably benign 0.02
X0060:Prpf40a UTSW 2 53,035,676 (GRCm39) missense probably damaging 0.96
Z1176:Prpf40a UTSW 2 53,034,887 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCGTAAGGCTCAGGAAGTC -3'
(R):5'- GCATTGAGGCTTTGAAACTCAAG -3'

Sequencing Primer
(F):5'- CAACATACGCAAGGCTGTGGTTC -3'
(R):5'- GTAAATACTTGCACTTTAAAGCGAG -3'
Posted On 2018-02-27