Incidental Mutation 'R4908:Prrc2b'
ID 379156
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
MMRRC Submission 042510-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4908 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32116330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1421 (S1421T)
Ref Sequence ENSEMBL: ENSMUSP00000035734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036691] [ENSMUST00000069817]
AlphaFold Q7TPM1
Predicted Effect possibly damaging
Transcript: ENSMUST00000036691
AA Change: S1421T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: S1421T

DomainStartEndE-ValueType
Pfam:BAT2_N 1 194 2.7e-85 PFAM
low complexity region 359 374 N/A INTRINSIC
low complexity region 388 394 N/A INTRINSIC
low complexity region 413 424 N/A INTRINSIC
coiled coil region 494 544 N/A INTRINSIC
low complexity region 600 621 N/A INTRINSIC
low complexity region 638 656 N/A INTRINSIC
low complexity region 885 900 N/A INTRINSIC
low complexity region 992 1007 N/A INTRINSIC
low complexity region 1112 1126 N/A INTRINSIC
low complexity region 1218 1233 N/A INTRINSIC
low complexity region 1257 1275 N/A INTRINSIC
low complexity region 1402 1421 N/A INTRINSIC
low complexity region 1425 1437 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000069817
AA Change: S2107T

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: S2107T

DomainStartEndE-ValueType
Pfam:BAT2_N 1 191 3.1e-65 PFAM
low complexity region 359 374 N/A INTRINSIC
low complexity region 388 394 N/A INTRINSIC
low complexity region 413 424 N/A INTRINSIC
coiled coil region 494 544 N/A INTRINSIC
low complexity region 600 621 N/A INTRINSIC
low complexity region 638 656 N/A INTRINSIC
low complexity region 960 977 N/A INTRINSIC
low complexity region 1004 1018 N/A INTRINSIC
low complexity region 1070 1094 N/A INTRINSIC
low complexity region 1307 1325 N/A INTRINSIC
low complexity region 1388 1401 N/A INTRINSIC
low complexity region 1413 1426 N/A INTRINSIC
low complexity region 1572 1587 N/A INTRINSIC
low complexity region 1678 1693 N/A INTRINSIC
low complexity region 1798 1812 N/A INTRINSIC
low complexity region 1904 1919 N/A INTRINSIC
low complexity region 1943 1961 N/A INTRINSIC
low complexity region 2088 2107 N/A INTRINSIC
low complexity region 2111 2123 N/A INTRINSIC
low complexity region 2161 2174 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129626
Predicted Effect unknown
Transcript: ENSMUST00000132459
AA Change: S1348T
SMART Domains Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: S1348T

DomainStartEndE-ValueType
Pfam:BAT2_N 1 119 9.8e-24 PFAM
low complexity region 287 302 N/A INTRINSIC
low complexity region 316 322 N/A INTRINSIC
low complexity region 341 352 N/A INTRINSIC
coiled coil region 421 471 N/A INTRINSIC
low complexity region 528 549 N/A INTRINSIC
low complexity region 566 584 N/A INTRINSIC
low complexity region 813 828 N/A INTRINSIC
low complexity region 920 935 N/A INTRINSIC
low complexity region 1040 1054 N/A INTRINSIC
low complexity region 1146 1161 N/A INTRINSIC
low complexity region 1185 1203 N/A INTRINSIC
low complexity region 1330 1349 N/A INTRINSIC
low complexity region 1353 1365 N/A INTRINSIC
low complexity region 1403 1416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175128
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,778,008 (GRCm39) I79L probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acaa1a G A 9: 119,177,772 (GRCm39) S218N probably benign Het
Acsm5 A T 7: 119,137,314 (GRCm39) I377F probably damaging Het
Ahnak2 T C 12: 112,741,706 (GRCm39) T789A probably benign Het
Ak9 A T 10: 41,296,678 (GRCm39) T1475S unknown Het
AU040320 A T 4: 126,747,081 (GRCm39) N1028Y probably damaging Het
Bahcc1 T A 11: 120,178,580 (GRCm39) S2380T probably benign Het
Cadps A G 14: 12,536,386 (GRCm38) Y525H probably damaging Het
Casp8ap2 A G 4: 32,639,905 (GRCm39) T320A possibly damaging Het
Ccdc138 A G 10: 58,380,817 (GRCm39) N483D possibly damaging Het
Ccdc39 G A 3: 33,893,242 (GRCm39) probably null Het
Cd300c2 T C 11: 114,887,772 (GRCm39) N210S probably damaging Het
Cd84 A G 1: 171,700,432 (GRCm39) D183G probably damaging Het
Cep95 C T 11: 106,702,172 (GRCm39) P390S probably damaging Het
Chd9 A T 8: 91,741,877 (GRCm39) H1622L possibly damaging Het
Cilp C A 9: 65,185,302 (GRCm39) Q466K probably benign Het
Cinp T A 12: 110,850,487 (GRCm39) T5S probably damaging Het
Clec4a2 T C 6: 123,119,462 (GRCm39) L238S probably damaging Het
Cntrob T C 11: 69,211,732 (GRCm39) Y164C probably damaging Het
Col6a3 A G 1: 90,735,246 (GRCm39) L1408P probably damaging Het
Cul3 G A 1: 80,258,632 (GRCm39) S468L possibly damaging Het
Dnah11 T A 12: 118,090,618 (GRCm39) D1081V probably benign Het
Dnah2 C A 11: 69,411,973 (GRCm39) V263L probably benign Het
Efna3 C G 3: 89,222,805 (GRCm39) R185P probably damaging Het
F5 A T 1: 164,039,389 (GRCm39) I2000F probably damaging Het
Fancm G A 12: 65,141,645 (GRCm39) G422E probably benign Het
Gcnt2 A T 13: 41,014,210 (GRCm39) D127V probably damaging Het
Gm21798 G T 15: 64,689,618 (GRCm39) probably benign Het
Gramd1a A C 7: 30,838,292 (GRCm39) S320R probably benign Het
Grn T C 11: 102,327,344 (GRCm39) probably benign Het
Helq A T 5: 100,910,507 (GRCm39) probably null Het
Herc2 A G 7: 55,827,660 (GRCm39) I2914V probably benign Het
Hnrnph1 T C 11: 50,269,237 (GRCm39) V27A probably damaging Het
Hs1bp3 G T 12: 8,374,007 (GRCm39) G182C probably damaging Het
Idnk C T 13: 58,311,267 (GRCm39) P78L probably benign Het
Il10ra T C 9: 45,166,919 (GRCm39) D544G probably benign Het
Inpp5e T C 2: 26,290,918 (GRCm39) D383G probably damaging Het
Jak1 A T 4: 101,036,911 (GRCm39) V243D probably damaging Het
Kcnma1 A T 14: 23,359,220 (GRCm39) S1036T probably damaging Het
Kif26a G A 12: 112,123,776 (GRCm39) C127Y probably damaging Het
Kif2c T C 4: 117,023,608 (GRCm39) E368G probably damaging Het
Lasp1 T A 11: 97,724,530 (GRCm39) probably null Het
Lcor T A 19: 41,572,601 (GRCm39) V452D probably benign Het
Lrrtm1 C G 6: 77,221,661 (GRCm39) H373D probably benign Het
Matr3 T A 18: 35,705,754 (GRCm39) D226E probably damaging Het
Mmp17 G A 5: 129,682,730 (GRCm39) W456* probably null Het
Mpp4 T C 1: 59,164,748 (GRCm39) E463G probably damaging Het
Myh6 A C 14: 55,194,419 (GRCm39) F737V probably damaging Het
Nars2 T A 7: 96,672,948 (GRCm39) D271E probably benign Het
Nav2 A G 7: 49,254,258 (GRCm39) E2352G probably damaging Het
Nckap1 A G 2: 80,353,718 (GRCm39) probably null Het
Nckap5 A T 1: 125,955,324 (GRCm39) S477R probably damaging Het
Nek11 T G 9: 105,175,488 (GRCm39) I319L probably benign Het
Neto2 A G 8: 86,396,393 (GRCm39) I84T probably damaging Het
Nlrp9a A T 7: 26,250,369 (GRCm39) I45F probably damaging Het
Numa1 G A 7: 101,662,012 (GRCm39) R548H probably damaging Het
Or10a5 A C 7: 106,635,364 (GRCm39) M1L probably benign Het
Or14c39 A C 7: 86,344,395 (GRCm39) I244L probably benign Het
Or2ag1b A T 7: 106,288,740 (GRCm39) L66H probably damaging Het
Or4c10 A T 2: 89,760,923 (GRCm39) M257L probably benign Het
Or4c100 T A 2: 88,356,254 (GRCm39) I109N probably damaging Het
Or4k36 T A 2: 111,146,574 (GRCm39) F250Y probably benign Het
Or7g25 A G 9: 19,160,149 (GRCm39) V182A probably benign Het
Or9m1 A T 2: 87,733,533 (GRCm39) N162K probably damaging Het
Pcdhb16 T A 18: 37,612,894 (GRCm39) probably null Het
Pdcd10 T C 3: 75,448,553 (GRCm39) T4A probably damaging Het
Pgc A T 17: 48,039,819 (GRCm39) Y71F probably damaging Het
Phlpp1 G A 1: 106,317,481 (GRCm39) G1234E probably damaging Het
Prr27 T C 5: 87,990,888 (GRCm39) F167L probably benign Het
Pxmp2 A G 5: 110,431,518 (GRCm39) V75A probably benign Het
Pygl A T 12: 70,243,807 (GRCm39) M545K probably null Het
Ranbp9 A G 13: 43,574,733 (GRCm39) Y412H possibly damaging Het
Rcc1 A G 4: 132,065,064 (GRCm39) V140A probably damaging Het
Reln A G 5: 22,184,718 (GRCm39) V1599A probably benign Het
Rhebl1 A T 15: 98,776,903 (GRCm39) D122E probably damaging Het
Rock2 C T 12: 17,009,492 (GRCm39) L676F probably benign Het
Scn9a A T 2: 66,357,087 (GRCm39) D1062E probably benign Het
Sec63 T C 10: 42,681,186 (GRCm39) I390T probably damaging Het
Slc10a6 T C 5: 103,754,493 (GRCm39) E346G probably benign Het
Slc12a3 G A 8: 95,075,216 (GRCm39) V737M possibly damaging Het
Slc12a8 T C 16: 33,426,629 (GRCm39) probably null Het
Slc25a38 T A 9: 119,949,354 (GRCm39) I102N probably damaging Het
Spg7 T A 8: 123,807,394 (GRCm39) V390E probably damaging Het
Tbc1d20 T C 2: 152,144,228 (GRCm39) V75A probably benign Het
Tesk1 T A 4: 43,445,555 (GRCm39) C243* probably null Het
Ttk T A 9: 83,725,739 (GRCm39) N220K possibly damaging Het
Ttll5 A G 12: 85,965,948 (GRCm39) E651G probably benign Het
Tubd1 T C 11: 86,457,879 (GRCm39) Y426H probably damaging Het
Uba6 T C 5: 86,288,293 (GRCm39) silent Het
Ube2ql1 G A 13: 69,852,289 (GRCm39) R263W probably damaging Het
Vmn2r117 C T 17: 23,678,812 (GRCm39) G804D probably damaging Het
Vmn2r25 C T 6: 123,805,406 (GRCm39) E484K probably benign Het
Vmn2r4 T A 3: 64,296,476 (GRCm39) I770F possibly damaging Het
Vmn2r82 G A 10: 79,214,589 (GRCm39) V191M probably benign Het
Zbtb45 C T 7: 12,742,037 (GRCm39) V74M probably damaging Het
Zfp366 T C 13: 99,370,609 (GRCm39) V443A possibly damaging Het
Zfyve1 A T 12: 83,598,345 (GRCm39) C628S probably damaging Het
Zfyve26 A T 12: 79,296,469 (GRCm39) probably null Het
Other mutations in Prrc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Prrc2b APN 2 32,098,731 (GRCm39) missense probably damaging 1.00
IGL00846:Prrc2b APN 2 32,089,109 (GRCm39) splice site probably benign
IGL00977:Prrc2b APN 2 32,103,822 (GRCm39) missense probably benign 0.05
IGL01372:Prrc2b APN 2 32,113,942 (GRCm39) missense probably damaging 0.99
IGL01993:Prrc2b APN 2 32,114,057 (GRCm39) missense possibly damaging 0.47
IGL02097:Prrc2b APN 2 32,081,513 (GRCm39) splice site probably benign
IGL02165:Prrc2b APN 2 32,104,652 (GRCm39) missense probably damaging 1.00
IGL02184:Prrc2b APN 2 32,111,467 (GRCm39) missense probably benign 0.19
IGL02238:Prrc2b APN 2 32,103,429 (GRCm39) missense probably damaging 1.00
IGL02338:Prrc2b APN 2 32,104,047 (GRCm39) missense probably benign 0.01
IGL02399:Prrc2b APN 2 32,116,973 (GRCm39) nonsense probably null
IGL02597:Prrc2b APN 2 32,109,625 (GRCm39) missense probably damaging 1.00
IGL02729:Prrc2b APN 2 32,098,770 (GRCm39) missense probably damaging 0.99
IGL02743:Prrc2b APN 2 32,084,441 (GRCm39) missense probably damaging 1.00
IGL02815:Prrc2b APN 2 32,094,265 (GRCm39) missense probably damaging 1.00
IGL03159:Prrc2b APN 2 32,084,498 (GRCm39) missense probably damaging 0.98
BB002:Prrc2b UTSW 2 32,094,127 (GRCm39) missense probably damaging 1.00
BB012:Prrc2b UTSW 2 32,094,127 (GRCm39) missense probably damaging 1.00
FR4304:Prrc2b UTSW 2 32,111,179 (GRCm39) missense probably damaging 1.00
R0082:Prrc2b UTSW 2 32,102,310 (GRCm39) splice site probably benign
R0105:Prrc2b UTSW 2 32,103,323 (GRCm39) nonsense probably null
R0276:Prrc2b UTSW 2 32,109,666 (GRCm39) missense probably damaging 0.97
R0325:Prrc2b UTSW 2 32,089,103 (GRCm39) missense probably damaging 1.00
R0436:Prrc2b UTSW 2 32,120,672 (GRCm39) missense probably damaging 1.00
R0595:Prrc2b UTSW 2 32,073,189 (GRCm39) missense probably damaging 1.00
R0607:Prrc2b UTSW 2 32,103,882 (GRCm39) missense probably damaging 0.99
R0650:Prrc2b UTSW 2 32,119,267 (GRCm39) splice site probably benign
R1282:Prrc2b UTSW 2 32,113,456 (GRCm39) missense probably damaging 0.96
R1421:Prrc2b UTSW 2 32,090,990 (GRCm39) missense possibly damaging 0.65
R1452:Prrc2b UTSW 2 32,084,997 (GRCm39) missense probably damaging 1.00
R1535:Prrc2b UTSW 2 32,094,301 (GRCm39) missense probably benign 0.06
R1709:Prrc2b UTSW 2 32,084,473 (GRCm39) missense probably damaging 1.00
R1710:Prrc2b UTSW 2 32,102,234 (GRCm39) missense probably damaging 0.99
R2094:Prrc2b UTSW 2 32,072,582 (GRCm39) missense probably damaging 1.00
R2202:Prrc2b UTSW 2 32,113,476 (GRCm39) missense probably damaging 1.00
R2203:Prrc2b UTSW 2 32,113,476 (GRCm39) missense probably damaging 1.00
R2204:Prrc2b UTSW 2 32,113,476 (GRCm39) missense probably damaging 1.00
R2428:Prrc2b UTSW 2 32,106,067 (GRCm39) missense probably benign 0.00
R2435:Prrc2b UTSW 2 32,109,741 (GRCm39) missense probably damaging 0.99
R3439:Prrc2b UTSW 2 32,096,359 (GRCm39) missense probably benign 0.01
R4175:Prrc2b UTSW 2 32,108,820 (GRCm39) intron probably benign
R4710:Prrc2b UTSW 2 32,083,869 (GRCm39) missense possibly damaging 0.80
R4728:Prrc2b UTSW 2 32,120,637 (GRCm39) missense probably damaging 1.00
R4791:Prrc2b UTSW 2 32,107,351 (GRCm39) splice site probably null
R4876:Prrc2b UTSW 2 32,104,212 (GRCm39) missense probably benign 0.00
R4997:Prrc2b UTSW 2 32,112,323 (GRCm39) missense probably damaging 1.00
R5240:Prrc2b UTSW 2 32,096,408 (GRCm39) missense probably benign 0.01
R5276:Prrc2b UTSW 2 32,104,734 (GRCm39) missense probably benign 0.09
R5455:Prrc2b UTSW 2 32,111,355 (GRCm39) critical splice acceptor site probably null
R5821:Prrc2b UTSW 2 32,102,144 (GRCm39) missense probably damaging 0.99
R5835:Prrc2b UTSW 2 32,096,485 (GRCm39) missense probably benign 0.18
R5958:Prrc2b UTSW 2 32,102,092 (GRCm39) missense possibly damaging 0.89
R6052:Prrc2b UTSW 2 32,102,297 (GRCm39) missense possibly damaging 0.92
R6218:Prrc2b UTSW 2 32,098,823 (GRCm39) missense probably damaging 1.00
R6428:Prrc2b UTSW 2 32,116,508 (GRCm39) splice site probably null
R6505:Prrc2b UTSW 2 32,112,332 (GRCm39) missense probably damaging 1.00
R6812:Prrc2b UTSW 2 32,103,153 (GRCm39) missense probably benign 0.30
R6826:Prrc2b UTSW 2 32,112,300 (GRCm39) critical splice acceptor site probably null
R6827:Prrc2b UTSW 2 32,090,963 (GRCm39) missense probably benign 0.37
R7021:Prrc2b UTSW 2 32,111,498 (GRCm39) missense probably damaging 1.00
R7078:Prrc2b UTSW 2 32,103,531 (GRCm39) missense probably benign 0.01
R7081:Prrc2b UTSW 2 32,103,075 (GRCm39) missense probably benign 0.12
R7101:Prrc2b UTSW 2 32,117,005 (GRCm39) missense possibly damaging 0.68
R7215:Prrc2b UTSW 2 32,119,309 (GRCm39) missense probably damaging 1.00
R7228:Prrc2b UTSW 2 32,104,318 (GRCm39) nonsense probably null
R7566:Prrc2b UTSW 2 32,084,402 (GRCm39) missense probably benign 0.02
R7719:Prrc2b UTSW 2 32,107,280 (GRCm39) nonsense probably null
R7925:Prrc2b UTSW 2 32,094,127 (GRCm39) missense probably damaging 1.00
R7999:Prrc2b UTSW 2 32,084,426 (GRCm39) missense probably damaging 0.96
R8099:Prrc2b UTSW 2 32,098,686 (GRCm39) missense probably benign 0.06
R8154:Prrc2b UTSW 2 32,108,689 (GRCm39) missense probably benign 0.42
R8252:Prrc2b UTSW 2 32,109,392 (GRCm39) missense possibly damaging 0.80
R8379:Prrc2b UTSW 2 32,104,666 (GRCm39) missense probably damaging 0.96
R8485:Prrc2b UTSW 2 32,102,105 (GRCm39) missense possibly damaging 0.83
R8845:Prrc2b UTSW 2 32,106,162 (GRCm39) missense possibly damaging 0.89
R8845:Prrc2b UTSW 2 32,102,105 (GRCm39) missense possibly damaging 0.83
R8919:Prrc2b UTSW 2 32,104,953 (GRCm39) missense probably benign
R8982:Prrc2b UTSW 2 32,102,134 (GRCm39) missense probably damaging 1.00
R9065:Prrc2b UTSW 2 32,109,304 (GRCm39) missense probably damaging 0.99
R9127:Prrc2b UTSW 2 32,103,764 (GRCm39) missense probably damaging 1.00
R9217:Prrc2b UTSW 2 32,103,414 (GRCm39) missense probably damaging 1.00
R9338:Prrc2b UTSW 2 32,098,779 (GRCm39) missense probably damaging 1.00
R9344:Prrc2b UTSW 2 32,103,600 (GRCm39) missense probably benign 0.28
R9386:Prrc2b UTSW 2 32,104,125 (GRCm39) missense probably benign
R9601:Prrc2b UTSW 2 32,090,953 (GRCm39) missense probably damaging 1.00
R9607:Prrc2b UTSW 2 32,098,794 (GRCm39) missense probably damaging 0.99
R9670:Prrc2b UTSW 2 32,103,199 (GRCm39) missense probably benign 0.00
R9706:Prrc2b UTSW 2 32,107,300 (GRCm39) missense probably benign 0.00
Z1088:Prrc2b UTSW 2 32,106,744 (GRCm39) missense probably damaging 1.00
Z1088:Prrc2b UTSW 2 32,104,441 (GRCm39) missense probably benign 0.03
Z1177:Prrc2b UTSW 2 32,116,364 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCTGACAGTACCCTATGGC -3'
(R):5'- GCCTTTGCAGTGTGAGAGAC -3'

Sequencing Primer
(F):5'- GTTTAATGAAGACTCCAAGGCCTG -3'
(R):5'- ACTGGAGGCGTGCCCTTTC -3'
Posted On 2016-04-15