Incidental Mutation 'R7078:Prrc2b'
ID 549314
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7078 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32103531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1003 (D1003V)
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 benign
Transcript: ENSMUST00000069817
AA Change: D1003V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: D1003V

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,154,138 (GRCm39) R953Q possibly damaging Het
Aldh1a1 A T 19: 20,579,434 (GRCm39) H20L probably benign Het
Ankrd52 T A 10: 128,219,526 (GRCm39) C487S probably benign Het
Ap1s3 T C 1: 79,602,845 (GRCm39) E54G probably benign Het
Arglu1 A C 8: 8,717,361 (GRCm39) M236R probably benign Het
Baz1b T A 5: 135,246,293 (GRCm39) F581I probably benign Het
Bbox1 T G 2: 110,122,884 (GRCm39) D135A probably benign Het
Bcl2l14 T A 6: 134,400,786 (GRCm39) V69E probably damaging Het
Brinp3 C T 1: 146,390,627 (GRCm39) Q58* probably null Het
Ccnb1ip1 T A 14: 51,029,724 (GRCm39) K113* probably null Het
Cep128 T C 12: 91,200,878 (GRCm39) I830M probably damaging Het
Ces2f C T 8: 105,681,284 (GRCm39) T541I probably damaging Het
Chsy3 C A 18: 59,309,149 (GRCm39) P134Q possibly damaging Het
Cobl T G 11: 12,328,271 (GRCm39) T112P probably damaging Het
Cplane2 A T 4: 140,947,159 (GRCm39) Y180F probably benign Het
Dcc T A 18: 71,680,469 (GRCm39) K589I probably benign Het
Depdc1b T A 13: 108,523,505 (GRCm39) I460K possibly damaging Het
Dlst T C 12: 85,157,705 (GRCm39) F12S probably benign Het
Dnah1 G C 14: 31,019,067 (GRCm39) F1342L probably damaging Het
Dtnb A G 12: 3,798,480 (GRCm39) Q438R possibly damaging Het
Dusp4 C A 8: 35,275,065 (GRCm39) S61R probably damaging Het
E130308A19Rik A G 4: 59,737,688 (GRCm39) Y433C probably damaging Het
Ebf2 T C 14: 67,661,407 (GRCm39) S512P probably benign Het
Elapor2 A G 5: 9,460,709 (GRCm39) N210S probably benign Het
Eya1 C T 1: 14,301,636 (GRCm39) probably null Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fzr1 T A 10: 81,204,463 (GRCm39) D379V probably damaging Het
Gk2 T A 5: 97,604,195 (GRCm39) E214D probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gmnc A T 16: 26,779,272 (GRCm39) V251E probably benign Het
Golga3 A G 5: 110,340,953 (GRCm39) Q549R probably damaging Het
Gsdmd T G 15: 75,736,204 (GRCm39) V111G probably damaging Het
Gtf3c1 T C 7: 125,244,914 (GRCm39) T1707A possibly damaging Het
Gucy2c C T 6: 136,674,937 (GRCm39) V1049M probably benign Het
Gucy2g A G 19: 55,229,583 (GRCm39) V29A probably damaging Het
Hecw1 A T 13: 14,609,044 (GRCm39) M1K probably null Het
Hmcn1 T C 1: 150,736,118 (GRCm39) D117G probably damaging Het
Ifnab T A 4: 88,609,350 (GRCm39) T39S possibly damaging Het
Lcorl A G 5: 45,904,566 (GRCm39) Y171H probably damaging Het
Ly6g6c C T 17: 35,288,437 (GRCm39) P103L probably damaging Het
Macf1 T G 4: 123,325,936 (GRCm39) E5189A probably damaging Het
Mapkap1 A G 2: 34,453,151 (GRCm39) E348G probably damaging Het
Med25 G T 7: 44,534,325 (GRCm39) A280D probably damaging Het
Mep1b C A 18: 21,233,108 (GRCm39) A703E probably benign Het
Morn5 T A 2: 35,944,990 (GRCm39) N71K probably benign Het
Mtmr10 T A 7: 63,970,375 (GRCm39) Y373N possibly damaging Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ncbp1 G C 4: 46,155,756 (GRCm39) V302L probably benign Het
Notch4 A G 17: 34,801,520 (GRCm39) T1123A possibly damaging Het
Nudt18 T A 14: 70,816,452 (GRCm39) M88K possibly damaging Het
Or12k8 A G 2: 36,975,608 (GRCm39) S51P possibly damaging Het
Or5b100-ps1 A T 19: 12,994,097 (GRCm39) D170V possibly damaging Het
Or6d12 T A 6: 116,493,632 (GRCm39) L298Q probably damaging Het
Or8g4 A T 9: 39,661,787 (GRCm39) Y35F possibly damaging Het
Pdcd6ip T C 9: 113,488,953 (GRCm39) N694S probably benign Het
Pecam1 T A 11: 106,579,773 (GRCm39) T430S probably benign Het
Plaa T G 4: 94,462,288 (GRCm39) T530P probably benign Het
Ppfia3 G T 7: 45,010,019 (GRCm39) Q95K probably damaging Het
Ppp4r2 T C 6: 100,843,274 (GRCm39) S331P probably benign Het
Prg4 T C 1: 150,334,014 (GRCm39) T117A possibly damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rasef T C 4: 73,698,626 (GRCm39) I12V probably benign Het
Robo2 T G 16: 74,149,504 (GRCm39) Y108S probably damaging Het
Rp1 T A 1: 4,277,014 (GRCm39) E762V unknown Het
Rsrc1 T C 3: 66,901,987 (GRCm39) S46P unknown Het
Rttn A T 18: 89,027,546 (GRCm39) T554S probably benign Het
Sall3 C T 18: 81,017,314 (GRCm39) V205M probably damaging Het
Scn3a C A 2: 65,327,944 (GRCm39) V849L probably damaging Het
Sec23a A G 12: 59,039,069 (GRCm39) C277R probably benign Het
Sf3b3 C T 8: 111,539,639 (GRCm39) A1075T possibly damaging Het
Sfxn5 T C 6: 85,309,366 (GRCm39) D113G unknown Het
Slc22a22 C T 15: 57,126,876 (GRCm39) M64I probably benign Het
Slc5a11 C T 7: 122,857,669 (GRCm39) P253S probably damaging Het
Smarcd3 A G 5: 24,798,067 (GRCm39) F449S probably damaging Het
Sspo C T 6: 48,437,313 (GRCm39) T1357M probably damaging Het
Styx C T 14: 45,609,873 (GRCm39) T179I probably benign Het
Syt7 A T 19: 10,412,963 (GRCm39) T297S probably benign Het
Tbx19 T A 1: 164,988,135 (GRCm39) probably benign Het
Tg T A 15: 66,545,392 (GRCm39) V149E probably damaging Het
Tgfbr3l T A 8: 4,299,238 (GRCm39) L35Q probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem219 T A 7: 126,490,975 (GRCm39) T161S probably damaging Het
Tox2 T A 2: 163,162,501 (GRCm39) L68H Het
Trim5 T A 7: 103,927,681 (GRCm39) D153V possibly damaging Het
Ttn T C 2: 76,580,651 (GRCm39) Y23414C probably damaging Het
Ttn A T 2: 76,582,153 (GRCm39) N22913K probably damaging Het
Ubr2 A C 17: 47,266,779 (GRCm39) M1124R possibly damaging Het
Vmn2r75 A G 7: 85,815,568 (GRCm39) S99P probably damaging Het
Wdr83 T C 8: 85,802,680 (GRCm39) D219G probably damaging Het
Wdr90 C T 17: 26,068,623 (GRCm39) V1285M probably damaging Het
Zmynd15 A T 11: 70,351,581 (GRCm39) L62F probably damaging 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
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'- TCCTCTTGGGAGAAGGAAGG -3'
(R):5'- GGCCTGTTCCTCATCAATGAAG -3'

Sequencing Primer
(F):5'- AGCCTGAGTGGACACCTGAG -3'
(R):5'- CTGTTCCTCATCAATGAAGATCCAG -3'
Posted On 2019-05-15