Incidental Mutation 'R4710:Prrc2b'
ID 353180
Institutional Source Beutler Lab
Gene Symbol Prrc2b
Ensembl Gene ENSMUSG00000039262
Gene Name proline-rich coiled-coil 2B
Synonyms 5830434P21Rik, Bat2l
MMRRC Submission 042019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4710 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32041094-32124549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32083869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 236 (S236R)
Ref Sequence ENSEMBL: ENSMUSP00000064892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036691] [ENSMUST00000069817]
AlphaFold Q7TPM1
Predicted Effect probably benign
Transcript: ENSMUST00000036691
AA Change: S236R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: S236R

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: S236R

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: S236R

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 unknown
Transcript: ENSMUST00000132459
AA Change: S163R
SMART Domains Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: S163R

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 0.0608 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,618,262 (GRCm39) Q185L probably benign Het
Acaca T A 11: 84,283,163 (GRCm39) I2243N possibly damaging Het
Adamts18 A G 8: 114,433,558 (GRCm39) S1059P probably damaging Het
Aox4 A T 1: 58,294,797 (GRCm39) K1002M probably damaging Het
Ap1b1 A G 11: 4,981,664 (GRCm39) Y524C probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cntn2 T A 1: 132,455,963 (GRCm39) H185L possibly damaging Het
Col4a2 C A 8: 11,459,462 (GRCm39) P299Q probably benign Het
Commd3 A G 2: 18,679,093 (GRCm39) N106S probably benign Het
Coro7 T G 16: 4,452,797 (GRCm39) probably benign Het
Ctf1 C A 7: 127,316,252 (GRCm39) P66Q probably damaging Het
Dclre1c T C 2: 3,441,898 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,529,493 (GRCm39) L317Q probably damaging Het
Dnah2 A G 11: 69,368,903 (GRCm39) L1667P probably damaging Het
Dpp4 A G 2: 62,190,659 (GRCm39) I399T probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Erg T C 16: 95,190,893 (GRCm39) D90G possibly damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Gimd1 T C 3: 132,340,609 (GRCm39) S42P possibly damaging Het
Gm5526 T A 1: 45,896,579 (GRCm39) noncoding transcript Het
Gnl2 T A 4: 124,947,252 (GRCm39) S625T probably benign Het
H2-Q2 A G 17: 35,562,278 (GRCm39) E175G probably damaging Het
Hmgxb3 G A 18: 61,270,547 (GRCm39) P926S probably damaging Het
Ifi213 G A 1: 173,394,738 (GRCm39) probably benign Het
Inhba T C 13: 16,201,068 (GRCm39) V210A probably benign Het
Kansl1l G A 1: 66,840,655 (GRCm39) A215V possibly damaging Het
Kcnk1 T A 8: 126,756,267 (GRCm39) V263D probably damaging Het
Kcnk9 A G 15: 72,384,824 (GRCm39) I118T probably damaging Het
Lamb1 A G 12: 31,332,582 (GRCm39) I283V probably benign Het
Larp7-ps T C 4: 92,079,212 (GRCm39) E203G possibly damaging Het
Lias A G 5: 65,555,070 (GRCm39) D88G probably benign Het
Lrrk2 G A 15: 91,584,130 (GRCm39) V297M possibly damaging Het
Maea C T 5: 33,526,034 (GRCm39) R237C probably benign Het
Mdfi T A 17: 48,135,511 (GRCm39) N73I probably damaging Het
Mphosph6 T A 8: 118,528,641 (GRCm39) M1L probably damaging Het
Mta2 T A 19: 8,926,517 (GRCm39) I486N probably damaging Het
Nbr1 C T 11: 101,466,101 (GRCm39) P769L probably damaging Het
Ncam2 T A 16: 81,262,594 (GRCm39) probably null Het
Ndel1 A G 11: 68,736,163 (GRCm39) Y26H probably damaging Het
Neb T C 2: 52,150,610 (GRCm39) R2473G probably benign Het
Or10ag53 T A 2: 87,082,384 (GRCm39) D34E possibly damaging Het
Or2t46 A T 11: 58,472,548 (GRCm39) I293F probably damaging Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or5h19 T A 16: 58,856,638 (GRCm39) H154L possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Prkn A C 17: 12,073,720 (GRCm39) Q346P possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Rnf112 T C 11: 61,340,657 (GRCm39) D491G probably damaging Het
Rnf220 C T 4: 117,146,411 (GRCm39) probably benign Het
Ryr3 G A 2: 112,596,646 (GRCm39) L2483F probably damaging Het
Sema6a T C 18: 47,403,750 (GRCm39) N624S probably benign Het
Sgms1 C T 19: 32,137,537 (GRCm39) V10M probably damaging Het
Slc23a2 T C 2: 131,898,629 (GRCm39) N636S probably benign Het
Slc25a48 C T 13: 56,611,379 (GRCm39) T162I probably damaging Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Snrnp200 T C 2: 127,068,053 (GRCm39) L850P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox18 A G 2: 181,312,688 (GRCm39) Y148H probably damaging Het
Stk-ps1 A G 17: 36,708,562 (GRCm39) noncoding transcript Het
Tas2r104 T A 6: 131,662,407 (GRCm39) T101S probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn2r4 A G 3: 64,317,201 (GRCm39) probably null Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfat A T 15: 68,052,131 (GRCm39) D554E probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y 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
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'- TGCCTGACAACATTTGGGTTTC -3'
(R):5'- GAGCCTACAGTTATGGACAGG -3'

Sequencing Primer
(F):5'- CTGACAACATTTGGGTTTCTTTTCTG -3'
(R):5'- GGATGTTTTGAGTACTTACAAACGC -3'
Posted On 2015-10-21