Incidental Mutation 'R9127:Prrc2b'
ID 693300
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
MMRRC Submission 068926-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9127 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32103764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1081 (R1081S)
Ref Sequence ENSEMBL: ENSMUSP00000064892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036691] [ENSMUST00000069817]
AlphaFold Q7TPM1
Predicted Effect probably benign
Transcript: ENSMUST00000036691
SMART Domains Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262

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 probably damaging
Transcript: ENSMUST00000069817
AA Change: R1081S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: R1081S

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 probably benign
Transcript: ENSMUST00000128936
SMART Domains Protein: ENSMUSP00000121664
Gene: ENSMUSG00000039262

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
low complexity region 159 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132459
SMART Domains Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262

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 probably benign
Transcript: ENSMUST00000156313
SMART Domains Protein: ENSMUSP00000114994
Gene: ENSMUSG00000039262

DomainStartEndE-ValueType
low complexity region 125 140 N/A INTRINSIC
low complexity region 231 246 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,242,080 (GRCm39) D1314E probably benign Het
Abcb1a A T 5: 8,724,707 (GRCm39) R47W probably benign Het
Abcc6 T C 7: 45,629,184 (GRCm39) N1354S probably damaging Het
Abracl T C 10: 17,887,444 (GRCm39) Y61C probably damaging Het
Adamtsl1 A G 4: 86,208,027 (GRCm39) T633A probably benign Het
Agap3 G A 5: 24,681,439 (GRCm39) probably benign Het
Ago4 A T 4: 126,400,904 (GRCm39) M647K probably damaging Het
Akap7 G T 10: 25,155,676 (GRCm39) S72R unknown Het
Arhgef12 A G 9: 42,885,870 (GRCm39) L1251S possibly damaging Het
Astn2 A T 4: 66,322,164 (GRCm39) V145E unknown Het
Atxn2l A T 7: 126,097,393 (GRCm39) S304R probably damaging Het
Cd226 A T 18: 89,287,155 (GRCm39) I318F probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cfap65 A T 1: 74,958,510 (GRCm39) probably benign Het
Cfap96 T G 8: 46,415,403 (GRCm39) D201A probably benign Het
Chtf8 A G 8: 107,613,640 (GRCm39) V18A probably benign Het
Cit G T 5: 116,074,896 (GRCm39) E683* probably null Het
Ckmt2 T C 13: 92,007,337 (GRCm39) R286G probably damaging Het
Clec4a2 T A 6: 123,116,218 (GRCm39) W128R probably damaging Het
Clec4n T G 6: 123,212,447 (GRCm39) S88A probably damaging Het
Cndp2 G A 18: 84,699,121 (GRCm39) A48V probably benign Het
Csmd1 T C 8: 16,273,286 (GRCm39) T849A probably benign Het
Cts3 A T 13: 61,715,235 (GRCm39) Y199* probably null Het
Dag1 A T 9: 108,085,734 (GRCm39) L469* probably null Het
Dclre1c T C 2: 3,439,125 (GRCm39) V225A Het
Dedd A G 1: 171,166,409 (GRCm39) D115G probably damaging Het
Efcab3 T A 11: 104,741,407 (GRCm39) V2166D probably benign Het
Eif2ak3 T A 6: 70,860,704 (GRCm39) W427R probably damaging Het
Fbln2 T A 6: 91,210,473 (GRCm39) V139D probably damaging Het
Fbn1 A T 2: 125,223,985 (GRCm39) M588K possibly damaging Het
Gm17019 A T 5: 15,081,113 (GRCm39) Y109* probably null Het
Gm32742 T A 9: 51,056,015 (GRCm39) N1255Y probably damaging Het
Gm5431 T A 11: 48,779,600 (GRCm39) K441* probably null Het
Golga2 A G 2: 32,196,079 (GRCm39) D898G Het
Gramd4 G A 15: 85,975,525 (GRCm39) R39H probably benign Het
Gucy1a2 A G 9: 3,634,553 (GRCm39) N199S probably damaging Het
Heyl G A 4: 123,139,885 (GRCm39) R148H probably damaging Het
Ifi208 A T 1: 173,523,400 (GRCm39) M557L probably benign Het
Igf2r A G 17: 12,958,238 (GRCm39) V145A probably damaging Het
Ighv1-4 A T 12: 114,450,879 (GRCm39) Y76* probably null Het
Ikzf4 T C 10: 128,468,487 (GRCm39) D664G unknown Het
Il1a T A 2: 129,146,715 (GRCm39) Y126F possibly damaging Het
Lmf2 C A 15: 89,239,771 (GRCm39) probably benign Het
Lyst T C 13: 13,808,827 (GRCm39) S166P probably damaging Het
Mgat5 A C 1: 127,294,197 (GRCm39) T180P probably benign Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mov10 G T 3: 104,711,659 (GRCm39) Y209* probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Numa1 T A 7: 101,641,869 (GRCm39) S106T possibly damaging Het
Or1e1d-ps1 A T 11: 73,819,167 (GRCm39) E39V probably damaging Het
Or4c124 G A 2: 89,156,474 (GRCm39) Q17* probably null Het
Or5b107 A G 19: 13,142,396 (GRCm39) N6S probably damaging Het
Or7g27 A G 9: 19,250,026 (GRCm39) H90R probably benign Het
Pcdhb14 A G 18: 37,582,091 (GRCm39) N399S probably damaging Het
Plcl2 T A 17: 50,918,032 (GRCm39) S944T probably benign Het
Pml A T 9: 58,127,660 (GRCm39) I695N probably benign Het
Ppard G T 17: 28,505,349 (GRCm39) R12L unknown Het
Ppip5k1 C T 2: 121,158,125 (GRCm39) probably null Het
Ppp1r3g T C 13: 36,152,621 (GRCm39) S14P probably benign Het
Pramel55 A G 5: 95,951,623 (GRCm39) Y470C probably damaging Het
Rasgrp2 A T 19: 6,454,438 (GRCm39) E160D possibly damaging Het
Rb1cc1 G A 1: 6,333,073 (GRCm39) V1331I probably damaging Het
Rnd3 A T 2: 51,022,413 (GRCm39) S210T probably benign Het
Scaf11 T C 15: 96,312,764 (GRCm39) T1426A probably benign Het
Sin3b C T 8: 73,460,034 (GRCm39) T207I possibly damaging Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc28a3 C T 13: 58,724,581 (GRCm39) M224I probably benign Het
Slc30a1 T C 1: 191,639,342 (GRCm39) I75T probably damaging Het
Slc6a21 T A 7: 44,929,674 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,945,243 (GRCm39) L206Q probably damaging Het
Spata31d1e A G 13: 59,890,828 (GRCm39) S331P probably benign Het
Sptbn1 A G 11: 30,104,356 (GRCm39) V116A probably damaging Het
Syngap1 G A 17: 27,181,095 (GRCm39) D1008N probably damaging Het
Syt11 T C 3: 88,669,643 (GRCm39) D83G probably benign Het
Syt14 G A 1: 192,584,131 (GRCm39) T428I probably damaging Het
Taf15 T A 11: 83,395,085 (GRCm39) Y338* probably null Het
Tfap4 A T 16: 4,365,183 (GRCm39) M253K possibly damaging Het
Tnr T C 1: 159,713,680 (GRCm39) S703P possibly damaging Het
Trrap G A 5: 144,767,830 (GRCm39) D2577N probably benign Het
Uqcc6 A T 10: 82,458,588 (GRCm39) M21K probably benign Het
Wdr20 C T 12: 110,759,597 (GRCm39) S161L possibly damaging Het
Zfp503 C A 14: 22,037,418 (GRCm39) V62L probably benign 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
R4908:Prrc2b UTSW 2 32,116,330 (GRCm39) missense possibly damaging 0.94
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
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'- CTTAGAGAGGAGAGCTCACAGC -3'
(R):5'- GGGCAGCTCTTCATACTCAG -3'

Sequencing Primer
(F):5'- TGGAGGACAAGGCTGCCTC -3'
(R):5'- TGAGTCTCGCTGGCAATGC -3'
Posted On 2022-01-20