Incidental Mutation 'R0650:Prrc2b'
ID 218659
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
MMRRC Submission 038835-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0650 (G1)
Quality Score 33
Status Validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 32119267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000069817
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262

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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N15Rik A G X: 68,989,391 (GRCm39) S96G unknown Het
4930447C04Rik T C 12: 72,956,830 (GRCm39) D120G probably damaging Het
Actmap A T 7: 26,902,072 (GRCm39) H233L probably damaging Het
Adgrg5 T A 8: 95,660,785 (GRCm39) probably null Het
Afg3l2 G T 18: 67,548,627 (GRCm39) H534Q possibly damaging Het
Ankar G A 1: 72,695,380 (GRCm39) probably benign Het
Arid2 T A 15: 96,299,930 (GRCm39) F1814L possibly damaging Het
Asb15 C T 6: 24,566,163 (GRCm39) A372V probably damaging Het
Atg16l1 A T 1: 87,709,421 (GRCm39) D403V possibly damaging Het
Bnc2 T C 4: 84,211,433 (GRCm39) D407G probably benign Het
Ccdc121 T C 5: 31,643,312 (GRCm39) probably benign Het
Cdan1 A G 2: 120,556,526 (GRCm39) V633A probably benign Het
Cfap46 T C 7: 139,185,571 (GRCm39) Y2482C unknown Het
Chd8 T C 14: 52,439,761 (GRCm39) E964G probably benign Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Depdc1b A G 13: 108,460,443 (GRCm39) N18D probably damaging Het
Fis1 T A 5: 136,991,048 (GRCm39) V4E probably damaging Het
Gba2 T A 4: 43,570,424 (GRCm39) probably null Het
Gm2381 C T 7: 42,469,504 (GRCm39) G207R probably damaging Het
Gpr89 T A 3: 96,804,640 (GRCm39) probably benign Het
Gtf2i A G 5: 134,290,691 (GRCm39) probably benign Het
Herc2 T G 7: 55,762,958 (GRCm39) S896A probably damaging Het
Huwe1 T C X: 150,659,309 (GRCm39) S921P probably damaging Het
Iqgap1 T A 7: 80,386,143 (GRCm39) K936I probably damaging Het
Kcna4 T A 2: 107,125,927 (GRCm39) Y220* probably null Het
Krt18 A G 15: 101,937,920 (GRCm39) D139G possibly damaging Het
Krt87 T C 15: 101,384,921 (GRCm39) N392D probably damaging Het
L3mbtl4 G A 17: 69,081,286 (GRCm39) C558Y probably damaging Het
Lamc2 T A 1: 153,019,622 (GRCm39) I440F possibly damaging Het
Lrrc28 T C 7: 67,267,833 (GRCm39) N98S probably damaging Het
Lrrk1 G A 7: 65,942,084 (GRCm39) A718V probably damaging Het
Mrgprx2 T C 7: 48,132,666 (GRCm39) I51V probably damaging Het
Myt1 A T 2: 181,424,408 (GRCm39) R25* probably null Het
Npdc1 C T 2: 25,298,021 (GRCm39) T199I probably benign Het
Nup98 T A 7: 101,801,660 (GRCm39) Y755F probably damaging Het
Or51q1c A G 7: 103,652,446 (GRCm39) probably null Het
Or5p69 T A 7: 107,966,996 (GRCm39) C100S probably damaging Het
Or5p76 G T 7: 108,122,289 (GRCm39) N289K probably damaging Het
Or8g22 T A 9: 38,957,996 (GRCm39) M240L probably benign Het
Osgin1 A T 8: 120,172,211 (GRCm39) Y335F probably damaging Het
Pde10a A T 17: 9,161,797 (GRCm39) I493F probably damaging Het
Pdgfrb A G 18: 61,212,780 (GRCm39) I895V probably benign Het
Peg10 T TCCCCANNANNNN 6: 4,756,475 (GRCm39) probably benign Het
Pidd1 A T 7: 141,020,726 (GRCm39) L457* probably null Het
Pik3c2a A G 7: 115,945,482 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plcg1 C T 2: 160,595,283 (GRCm39) probably benign Het
Prr13 A C 15: 102,370,650 (GRCm39) *138C probably null Het
Psph T C 5: 129,868,633 (GRCm39) probably benign Het
Ripor1 A G 8: 106,344,746 (GRCm39) probably benign Het
Scg3 A G 9: 75,576,617 (GRCm39) S253P probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgk1 A G 10: 21,758,556 (GRCm39) N7D probably damaging Het
Skor2 T C 18: 76,964,255 (GRCm39) F940L probably benign Het
Slbp T C 5: 33,802,833 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Susd5 A T 9: 113,911,603 (GRCm39) H171L possibly damaging Het
Sybu T C 15: 44,536,664 (GRCm39) E354G probably benign Het
Synpo T C 18: 60,735,412 (GRCm39) N845D possibly damaging Het
Tdrd6 A T 17: 43,939,050 (GRCm39) I666N probably damaging Het
Tm9sf4 T C 2: 153,029,285 (GRCm39) I111T probably benign Het
Tnc T C 4: 63,926,971 (GRCm39) T852A probably benign Het
Tnfrsf10b T A 14: 70,013,625 (GRCm39) I185K probably damaging Het
Tnks1bp1 A G 2: 84,892,974 (GRCm39) E305G possibly damaging Het
Tnrc6b T C 15: 80,668,959 (GRCm39) V22A probably benign Het
Ttn A T 2: 76,598,956 (GRCm39) F19319Y probably damaging Het
Ubr5 T C 15: 38,031,051 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,627 (GRCm39) Q191L probably benign Het
Urod T C 4: 116,848,473 (GRCm39) T300A probably benign Het
Vmn1r213 A G 13: 23,195,564 (GRCm39) probably benign Het
Znfx1 G A 2: 166,889,574 (GRCm39) Q723* 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
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'- TGGTGGTATCTAGCACTAGACAGCC -3'
(R):5'- TGCTTTTGCCAGGAGGAACTCAG -3'

Sequencing Primer
(F):5'- AAAAGACTCGCTGGCCTCTG -3'
(R):5'- CAGCTCTAAGCAGTAGGGCAC -3'
Posted On 2014-08-19