Incidental Mutation 'R4010:Rpain'
ID 311653
Institutional Source Beutler Lab
Gene Symbol Rpain
Ensembl Gene ENSMUSG00000018449
Gene Name RPA interacting protein
Synonyms 2400006N03Rik
MMRRC Submission 040947-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R4010 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70861039-70868659 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 70863833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000035283] [ENSMUST00000078528] [ENSMUST00000108529] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000169965] [ENSMUST00000167509] [ENSMUST00000154430] [ENSMUST00000178822] [ENSMUST00000171254]
AlphaFold Q9CWY9
Predicted Effect probably benign
Transcript: ENSMUST00000018593
SMART Domains Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 8 47 1.7e-21 PFAM
Pfam:RPA_interact_M 59 127 1.1e-14 PFAM
Pfam:RPA_interact_C 136 217 2.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035283
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078528
SMART Domains Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446

DomainStartEndE-ValueType
Pfam:MAM33 84 276 1.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108529
SMART Domains Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 7.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108530
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108531
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126815
Predicted Effect probably benign
Transcript: ENSMUST00000169965
SMART Domains Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1e-23 PFAM
Pfam:RPA_interact_M 58 106 6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151608
Predicted Effect probably benign
Transcript: ENSMUST00000167509
SMART Domains Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136665
Predicted Effect probably benign
Transcript: ENSMUST00000154430
SMART Domains Protein: ENSMUSP00000137113
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 38 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178822
SMART Domains Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171254
SMART Domains Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1.1e-23 PFAM
Pfam:RPA_interact_M 58 107 3.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178253
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T C 5: 88,120,136 (GRCm39) S298P probably damaging Het
Abca13 G A 11: 9,572,013 (GRCm39) probably benign Het
Abcc2 A G 19: 43,818,303 (GRCm39) N1263S possibly damaging Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Adamts12 A G 15: 11,286,169 (GRCm39) T793A possibly damaging Het
Adsl T C 15: 80,850,357 (GRCm39) S359P probably benign Het
Ddx60 A T 8: 62,407,569 (GRCm39) D360V possibly damaging Het
Ddx60 A T 8: 62,409,178 (GRCm39) M405L probably benign Het
Frmd6 A G 12: 70,946,327 (GRCm39) N585S probably benign Het
Fxr1 G T 3: 34,119,171 (GRCm39) R580L probably benign Het
Ggt7 G A 2: 155,342,652 (GRCm39) T358M probably benign Het
Gm5435 G A 12: 82,543,089 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,936,052 (GRCm39) H185Y probably benign Het
Ifit2 G T 19: 34,551,445 (GRCm39) M328I probably benign Het
Itgae T A 11: 73,002,165 (GRCm39) C90S probably benign Het
Kif1a G A 1: 92,950,131 (GRCm39) S1424F probably benign Het
Map2k2 T C 10: 80,944,769 (GRCm39) S94P probably damaging Het
Marveld2 C A 13: 100,747,936 (GRCm39) probably null Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Pdcl T C 2: 37,242,123 (GRCm39) Y209C probably damaging Het
Pde6c A G 19: 38,157,884 (GRCm39) E636G probably damaging Het
Pggt1b A G 18: 46,382,003 (GRCm39) Y260H possibly damaging Het
Pkhd1l1 T A 15: 44,392,496 (GRCm39) S1610R possibly damaging Het
Rel C T 11: 23,711,138 (GRCm39) V10I probably benign Het
Rpa2 T A 4: 132,497,960 (GRCm39) probably null Het
Rpl35rt T C 1: 156,193,724 (GRCm39) V26A probably benign Het
Ryr1 T C 7: 28,794,549 (GRCm39) T1237A probably benign Het
Safb T C 17: 56,910,765 (GRCm39) probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Setd2 A G 9: 110,428,263 (GRCm39) Q2320R probably null Het
Sh2d4a C T 8: 68,787,799 (GRCm39) R302C probably damaging Het
Slc19a2 T G 1: 164,088,451 (GRCm39) S300A probably damaging Het
Slc30a5 G A 13: 100,945,741 (GRCm39) A537V probably damaging Het
Strip2 A G 6: 29,955,584 (GRCm39) I717V possibly damaging Het
Supt16 A C 14: 52,401,898 (GRCm39) F924C probably damaging Het
Tekt4 T G 17: 25,695,460 (GRCm39) M431R probably damaging Het
Trim23 A G 13: 104,317,526 (GRCm39) probably benign Het
Tspear T C 10: 77,672,310 (GRCm39) probably benign Het
Usp39 C A 6: 72,313,468 (GRCm39) A241S probably benign Het
Vmn1r185 T A 7: 26,311,450 (GRCm39) L18F possibly damaging Het
Zfp213 T C 17: 23,777,064 (GRCm39) H326R possibly damaging Het
Zfp354c T A 11: 50,705,771 (GRCm39) I435F probably damaging Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Other mutations in Rpain
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Rpain APN 11 70,861,358 (GRCm39) missense possibly damaging 0.71
R0962:Rpain UTSW 11 70,865,867 (GRCm39) critical splice donor site probably null
R1529:Rpain UTSW 11 70,865,741 (GRCm39) missense probably damaging 1.00
R4950:Rpain UTSW 11 70,861,747 (GRCm39) missense probably benign 0.00
R5187:Rpain UTSW 11 70,864,658 (GRCm39) missense probably benign
R5420:Rpain UTSW 11 70,868,516 (GRCm39) splice site probably null
R7190:Rpain UTSW 11 70,862,735 (GRCm39) missense possibly damaging 0.82
R7650:Rpain UTSW 11 70,861,271 (GRCm39) unclassified probably benign
R8171:Rpain UTSW 11 70,864,724 (GRCm39) missense probably damaging 1.00
R9499:Rpain UTSW 11 70,865,816 (GRCm39) missense probably damaging 1.00
R9551:Rpain UTSW 11 70,865,816 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACCAGGCCAATTTTATCC -3'
(R):5'- GAGGCAGGAGCTTTAATCCC -3'

Sequencing Primer
(F):5'- CCAGGCCAATTTTATCCAGTAAATC -3'
(R):5'- GGAGCTTTAATCCCTAACACGG -3'
Posted On 2015-04-29