Incidental Mutation 'R7190:Rpain'
ID 559558
Institutional Source Beutler Lab
Gene Symbol Rpain
Ensembl Gene ENSMUSG00000018449
Gene Name RPA interacting protein
Synonyms 2400006N03Rik
MMRRC Submission 045273-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R7190 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70861039-70868659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70862735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 76 (E76G)
Ref Sequence ENSEMBL: ENSMUSP00000018593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000035283] [ENSMUST00000108529] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000154430] [ENSMUST00000167509] [ENSMUST00000169965] [ENSMUST00000171254] [ENSMUST00000178822]
AlphaFold Q9CWY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000018593
AA Change: E76G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449
AA Change: E76G

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 possibly damaging
Transcript: ENSMUST00000108529
AA Change: E76G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449
AA Change: E76G

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 probably benign
Transcript: ENSMUST00000154430
SMART Domains Protein: ENSMUSP00000137113
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 38 1.7e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167509
AA Change: E76G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449
AA Change: E76G

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169965
AA Change: E76G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449
AA Change: E76G

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1e-23 PFAM
Pfam:RPA_interact_M 58 106 6e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171254
AA Change: E76G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449
AA Change: E76G

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000178822
AA Change: E76G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449
AA Change: E76G

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.3e-16 PFAM
Meta Mutation Damage Score 0.1039 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Add3 C T 19: 53,205,330 (GRCm39) R27* probably null Het
Armc3 T A 2: 19,297,947 (GRCm39) Y573N probably damaging Het
Bod1l A C 5: 41,977,281 (GRCm39) N1344K probably benign Het
Camta1 T G 4: 151,232,980 (GRCm39) N231T possibly damaging Het
Capza2 T A 6: 17,654,120 (GRCm39) Y57* probably null Het
Ccdc168 A C 1: 44,100,775 (GRCm39) S108A probably benign Het
Ccdc186 T A 19: 56,780,432 (GRCm39) I871F probably damaging Het
Cntnap5b A G 1: 100,359,574 (GRCm39) probably null Het
Dnah2 G T 11: 69,439,923 (GRCm39) probably null Het
Fhod3 T C 18: 25,223,812 (GRCm39) F1053L probably damaging Het
Foxj1 A G 11: 116,223,201 (GRCm39) Y201H possibly damaging Het
Gatad2b T A 3: 90,257,722 (GRCm39) I210N probably benign Het
Gba1 T A 3: 89,111,669 (GRCm39) I112N probably damaging Het
Gbp2 T C 3: 142,339,208 (GRCm39) V420A probably benign Het
Golga3 T A 5: 110,357,721 (GRCm39) H1072Q probably damaging Het
Gpr150 C T 13: 76,203,992 (GRCm39) A318T probably benign Het
Gpr6 T C 10: 40,946,956 (GRCm39) N209D probably damaging Het
Grin2b T C 6: 135,709,946 (GRCm39) N1200S possibly damaging Het
Ifi207 G A 1: 173,557,818 (GRCm39) H307Y unknown Het
Il20ra A T 10: 19,618,689 (GRCm39) I46F probably damaging Het
Lvrn A G 18: 47,033,570 (GRCm39) D927G probably benign Het
Nlrc4 G T 17: 74,752,198 (GRCm39) D728E probably damaging Het
Nup107 T C 10: 117,598,040 (GRCm39) D630G probably benign Het
Or1e19 A T 11: 73,315,990 (GRCm39) I273N probably benign Het
Or6c5c T C 10: 129,298,626 (GRCm39) I27T probably benign Het
Pclo C A 5: 14,729,743 (GRCm39) A2867D unknown Het
Perm1 A G 4: 156,304,272 (GRCm39) T754A possibly damaging Het
Plpbp G T 8: 27,541,325 (GRCm39) V162L probably benign Het
Plscr4 A T 9: 92,370,694 (GRCm39) E220D probably benign Het
Ppp2r3d A T 9: 101,089,726 (GRCm39) M199K probably benign Het
Pramel38 T G 5: 94,366,096 (GRCm39) N71K probably benign Het
Rassf6 T C 5: 90,754,666 (GRCm39) E204G probably damaging Het
Reln A C 5: 22,252,945 (GRCm39) D667E probably damaging Het
Rere A G 4: 150,695,410 (GRCm39) I462V unknown Het
Strc T G 2: 121,199,507 (GRCm39) I1311L probably benign Het
Svil A G 18: 5,092,937 (GRCm39) M1385V probably benign Het
Syne2 T A 12: 76,113,361 (GRCm39) D1083E probably benign Het
Szt2 T A 4: 118,246,203 (GRCm39) H986L probably damaging Het
Tcl1b2 G T 12: 105,113,493 (GRCm39) probably null Het
Thy1 T A 9: 43,958,222 (GRCm39) S117T possibly damaging Het
Tmem183a A T 1: 134,282,496 (GRCm39) I203N probably damaging Het
Tmprss11g T C 5: 86,644,491 (GRCm39) I118V probably benign Het
Tsen34 T C 7: 3,697,806 (GRCm39) V69A possibly damaging Het
Ttn T C 2: 76,717,143 (GRCm39) Q7506R unknown Het
Vmn1r184 T C 7: 25,967,105 (GRCm39) S284P probably damaging Het
Wdr19 A G 5: 65,398,205 (GRCm39) D810G probably benign Het
Zer1 T C 2: 29,993,444 (GRCm39) D554G probably damaging Het
Zfp626 A T 7: 27,517,768 (GRCm39) T250S 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
R4010:Rpain UTSW 11 70,863,833 (GRCm39) splice site probably benign
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
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'- AGGACTTGAGGCTATGAAATTTTGC -3'
(R):5'- TGCATGTAGTATGGCAGAACC -3'

Sequencing Primer
(F):5'- GAGGCTATGAAATTTTGCATCTTG -3'
(R):5'- TTCTAATGAAGGTAAAAACCCTGAGC -3'
Posted On 2019-06-26