Incidental Mutation 'R0436:Prrc2b'
ID 38990
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
MMRRC Submission 038637-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0436 (G1)
Quality Score 176
Status Validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32120672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2204 (E2204G)
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: E2204G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: E2204G

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: ENSMUST00000128298
Predicted Effect unknown
Transcript: ENSMUST00000132459
AA Change: E1445G
SMART Domains Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: E1445G

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
Meta Mutation Damage Score 0.1450 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,682 (GRCm39) probably benign Het
Abcb10 C T 8: 124,697,740 (GRCm39) G195S probably benign Het
Adrb2 A G 18: 62,312,624 (GRCm39) V67A possibly damaging Het
Alx4 A T 2: 93,498,702 (GRCm39) K145* probably null Het
Arl8a G A 1: 135,074,718 (GRCm39) M1I probably null Het
Btbd16 G A 7: 130,387,783 (GRCm39) S134N probably benign Het
Ccdc136 T A 6: 29,414,933 (GRCm39) L474Q probably damaging Het
Cebpz A G 17: 79,243,079 (GRCm39) Y192H probably benign Het
Cep95 A G 11: 106,709,511 (GRCm39) Q109R probably null Het
Cfap54 G T 10: 92,874,837 (GRCm39) Q520K possibly damaging Het
Cog2 C T 8: 125,275,253 (GRCm39) probably benign Het
Cul1 A G 6: 47,500,707 (GRCm39) N702S probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmxl2 T C 9: 54,291,034 (GRCm39) D2472G probably damaging Het
Drgx T C 14: 32,330,040 (GRCm39) F81S probably damaging Het
Ect2 A G 3: 27,204,244 (GRCm39) F22L probably benign Het
Ehd4 A T 2: 119,932,822 (GRCm39) D201E probably damaging Het
Eif4ebp3 A G 18: 36,797,354 (GRCm39) probably null Het
Exd2 T C 12: 80,537,544 (GRCm39) probably benign Het
Gtf2a1 A C 12: 91,535,047 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,378,630 (GRCm39) Y256C probably damaging Het
Haus6 T C 4: 86,504,044 (GRCm39) R527G probably benign Het
Helb C T 10: 119,930,117 (GRCm39) probably benign Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Hk1 A T 10: 62,135,054 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,295,624 (GRCm39) K2611R probably damaging Het
Hrc A G 7: 44,985,557 (GRCm39) H236R possibly damaging Het
Hunk T A 16: 90,261,042 (GRCm39) Y178N probably damaging Het
Iftap T C 2: 101,440,864 (GRCm39) probably benign Het
Jakmip2 G A 18: 43,691,234 (GRCm39) Q616* probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Msantd4 C T 9: 4,385,180 (GRCm39) R302C probably damaging Het
Nae1 T C 8: 105,249,868 (GRCm39) probably benign Het
Nek4 C T 14: 30,692,429 (GRCm39) L293F probably damaging Het
Odf2l C T 3: 144,831,877 (GRCm39) T44I possibly damaging Het
Or52s19 A G 7: 103,007,948 (GRCm39) V151A possibly damaging Het
Otog G A 7: 45,915,360 (GRCm39) probably benign Het
Ppp1r21 C T 17: 88,873,117 (GRCm39) T425I possibly damaging Het
Prrc2c A C 1: 162,532,883 (GRCm39) probably benign Het
Ptgs2 T C 1: 149,980,028 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,371,455 (GRCm39) V197E probably damaging Het
Syne3 A G 12: 104,913,183 (GRCm39) W593R possibly damaging Het
Tmem63a A T 1: 180,800,298 (GRCm39) T696S probably benign Het
Tnks2 A G 19: 36,826,758 (GRCm39) D165G possibly damaging Het
Trim43a T C 9: 88,470,240 (GRCm39) W349R probably damaging Het
Unc45b T C 11: 82,820,393 (GRCm39) probably benign Het
Vmn1r4 T A 6: 56,933,947 (GRCm39) N150K probably damaging Het
Wdfy4 C A 14: 32,805,769 (GRCm39) probably benign Het
Wdr77 T A 3: 105,867,342 (GRCm39) D63E probably damaging Het
Zan T C 5: 137,463,164 (GRCm39) T672A unknown Het
Zdhhc17 A T 10: 110,817,851 (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
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
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'- AATCACTGCACCCTTGGGAAGGAC -3'
(R):5'- GCAAGCAGGTCAAAGCCACATGTC -3'

Sequencing Primer
(F):5'- AGGACAGTTCTGACTGCAC -3'
(R):5'- ATGGAACTCTCAGGAGCTTTC -3'
Posted On 2013-05-23