Incidental Mutation 'R7489:Prrc2a'
ID 580440
Institutional Source Beutler Lab
Gene Symbol Prrc2a
Ensembl Gene ENSMUSG00000024393
Gene Name proline-rich coiled-coil 2A
Synonyms 3110039B05Rik, D17H6S51E, Wbp12, G2, Bat2, Bat-2
MMRRC Submission 045563-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R7489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35368052-35383873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35381330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 46 (S46R)
Ref Sequence ENSEMBL: ENSMUSP00000025253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025253] [ENSMUST00000174805]
AlphaFold Q7TSC1
Predicted Effect unknown
Transcript: ENSMUST00000025253
AA Change: S46R
SMART Domains Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: S46R

DomainStartEndE-ValueType
Pfam:BAT2_N 1 189 1.2e-70 PFAM
low complexity region 243 276 N/A INTRINSIC
low complexity region 343 357 N/A INTRINSIC
low complexity region 396 413 N/A INTRINSIC
low complexity region 422 434 N/A INTRINSIC
coiled coil region 455 494 N/A INTRINSIC
low complexity region 504 523 N/A INTRINSIC
low complexity region 527 566 N/A INTRINSIC
low complexity region 593 618 N/A INTRINSIC
low complexity region 643 684 N/A INTRINSIC
low complexity region 687 709 N/A INTRINSIC
low complexity region 711 717 N/A INTRINSIC
low complexity region 755 768 N/A INTRINSIC
low complexity region 826 833 N/A INTRINSIC
low complexity region 861 871 N/A INTRINSIC
low complexity region 882 894 N/A INTRINSIC
low complexity region 902 924 N/A INTRINSIC
low complexity region 944 966 N/A INTRINSIC
low complexity region 1032 1070 N/A INTRINSIC
low complexity region 1129 1149 N/A INTRINSIC
low complexity region 1162 1179 N/A INTRINSIC
low complexity region 1190 1211 N/A INTRINSIC
low complexity region 1234 1242 N/A INTRINSIC
low complexity region 1285 1300 N/A INTRINSIC
low complexity region 1346 1360 N/A INTRINSIC
low complexity region 1394 1424 N/A INTRINSIC
low complexity region 1430 1456 N/A INTRINSIC
low complexity region 1488 1511 N/A INTRINSIC
low complexity region 1553 1565 N/A INTRINSIC
low complexity region 1693 1713 N/A INTRINSIC
internal_repeat_1 1810 1860 5.56e-5 PROSPERO
low complexity region 1879 1895 N/A INTRINSIC
internal_repeat_1 1924 1983 5.56e-5 PROSPERO
low complexity region 1995 2017 N/A INTRINSIC
low complexity region 2019 2041 N/A INTRINSIC
low complexity region 2070 2086 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174805
SMART Domains Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393

DomainStartEndE-ValueType
Pfam:BAT2_N 1 137 6.6e-53 PFAM
low complexity region 188 221 N/A INTRINSIC
low complexity region 288 302 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
coiled coil region 400 439 N/A INTRINSIC
low complexity region 449 468 N/A INTRINSIC
low complexity region 472 511 N/A INTRINSIC
low complexity region 538 563 N/A INTRINSIC
low complexity region 588 629 N/A INTRINSIC
low complexity region 632 654 N/A INTRINSIC
low complexity region 656 662 N/A INTRINSIC
low complexity region 700 713 N/A INTRINSIC
low complexity region 771 778 N/A INTRINSIC
low complexity region 806 816 N/A INTRINSIC
low complexity region 827 839 N/A INTRINSIC
low complexity region 847 869 N/A INTRINSIC
low complexity region 889 911 N/A INTRINSIC
low complexity region 977 1015 N/A INTRINSIC
low complexity region 1074 1094 N/A INTRINSIC
low complexity region 1107 1124 N/A INTRINSIC
low complexity region 1135 1156 N/A INTRINSIC
low complexity region 1179 1187 N/A INTRINSIC
low complexity region 1230 1245 N/A INTRINSIC
low complexity region 1291 1305 N/A INTRINSIC
low complexity region 1339 1369 N/A INTRINSIC
low complexity region 1375 1401 N/A INTRINSIC
low complexity region 1433 1456 N/A INTRINSIC
low complexity region 1498 1510 N/A INTRINSIC
low complexity region 1638 1658 N/A INTRINSIC
internal_repeat_1 1755 1804 3.99e-5 PROSPERO
low complexity region 1823 1839 N/A INTRINSIC
internal_repeat_1 1868 1927 3.99e-5 PROSPERO
low complexity region 1939 1961 N/A INTRINSIC
low complexity region 1963 1985 N/A INTRINSIC
low complexity region 2014 2030 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,122 (GRCm39) V123D probably damaging Het
4930503E14Rik A T 14: 44,407,756 (GRCm39) N92K probably damaging Het
4930519G04Rik T C 5: 115,017,686 (GRCm39) S166P unknown Het
Abtb3 T A 10: 85,463,079 (GRCm39) Y615N probably damaging Het
Adgrb3 G A 1: 25,586,586 (GRCm39) T369I probably damaging Het
Agbl4 T C 4: 111,383,855 (GRCm39) S237P probably damaging Het
Ahi1 T C 10: 20,839,649 (GRCm39) C187R probably benign Het
Akap9 C T 5: 4,054,933 (GRCm39) T1626M probably damaging Het
Alas1 A T 9: 106,118,833 (GRCm39) probably null Het
Apbb1 G T 7: 105,216,687 (GRCm39) T301N probably benign Het
Arhgap42 A G 9: 9,006,359 (GRCm39) V679A probably benign Het
Atp2a2 T C 5: 122,605,830 (GRCm39) D375G probably benign Het
Best1 A G 19: 9,974,410 (GRCm39) S45P possibly damaging Het
Bpifb4 A C 2: 153,785,924 (GRCm39) T21P probably damaging Het
Cdx2 A T 5: 147,243,482 (GRCm39) M104K probably benign Het
Ces1d A T 8: 93,904,759 (GRCm39) L327Q probably damaging Het
Ces2e A G 8: 105,656,412 (GRCm39) H214R probably benign Het
Chd5 G A 4: 152,457,925 (GRCm39) G1014D probably damaging Het
Cmya5 T A 13: 93,228,346 (GRCm39) K2247N possibly damaging Het
Dip2c T C 13: 9,583,348 (GRCm39) V110A probably damaging Het
Fancd2 T C 6: 113,541,265 (GRCm39) S724P probably benign Het
Galnt1 T A 18: 24,415,214 (GRCm39) V485D probably damaging Het
Garin3 G C 11: 46,298,268 (GRCm39) G524A Het
Gli2 A G 1: 118,765,905 (GRCm39) S749P probably benign Het
H2-M5 A C 17: 37,300,363 (GRCm39) L12V unknown Het
Iqcf6 C A 9: 106,504,656 (GRCm39) Q107K probably benign Het
Itfg1 C T 8: 86,493,630 (GRCm39) C283Y probably damaging Het
Jak3 A C 8: 72,136,936 (GRCm39) K704T probably damaging Het
Kl A T 5: 150,876,461 (GRCm39) T94S probably damaging Het
Krt73 A C 15: 101,702,294 (GRCm39) V523G probably benign Het
Lap3 T C 5: 45,657,848 (GRCm39) F215L probably damaging Het
Lce1c G A 3: 92,587,954 (GRCm39) C127Y unknown Het
Map6 C T 7: 98,917,268 (GRCm39) R14C probably damaging Het
Mcm10 T A 2: 5,006,112 (GRCm39) K410M probably damaging Het
Med23 T A 10: 24,780,254 (GRCm39) N967K probably damaging Het
Mmp8 A T 9: 7,561,388 (GRCm39) T131S probably benign Het
Ms4a14 T C 19: 11,279,395 (GRCm39) I1054M probably benign Het
Mup14 A G 4: 61,259,887 (GRCm39) M1T probably null Het
Myzap T A 9: 71,468,320 (GRCm39) T110S probably benign Het
Nmrk1 A T 19: 18,619,606 (GRCm39) K153M probably damaging Het
Nmrk1 G T 19: 18,619,607 (GRCm39) K153N possibly damaging Het
Or4x12-ps1 T A 2: 89,916,704 (GRCm39) M34L probably benign Het
Or6c70 A T 10: 129,710,551 (GRCm39) I25N probably damaging Het
Pcdh12 T C 18: 38,414,842 (GRCm39) H761R possibly damaging Het
Pde4d C A 13: 109,253,301 (GRCm39) L43I unknown Het
Rab19 A G 6: 39,365,039 (GRCm39) T100A probably benign Het
Rad51b C T 12: 79,347,359 (GRCm39) R8* probably null Het
Sclt1 A T 3: 41,584,032 (GRCm39) L642Q probably damaging Het
Scyl3 T C 1: 163,776,745 (GRCm39) I392T possibly damaging Het
Sipa1l3 A G 7: 29,066,127 (GRCm39) W1076R probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc5a9 C A 4: 111,741,113 (GRCm39) C511F probably damaging Het
Sspo T C 6: 48,450,647 (GRCm39) L2612P probably damaging Het
Synrg C T 11: 83,881,651 (GRCm39) T329I probably benign Het
Tdrd9 A G 12: 112,034,071 (GRCm39) T1338A probably benign Het
Tenm4 A T 7: 96,486,521 (GRCm39) D996V possibly damaging Het
Ticam2 T A 18: 46,693,584 (GRCm39) I168L probably damaging Het
Tom1l1 T C 11: 90,547,185 (GRCm39) I374M probably benign Het
Trip10 A T 17: 57,557,966 (GRCm39) K51I probably damaging Het
Trpc6 T A 9: 8,656,545 (GRCm39) D735E probably benign Het
Trpm8 T A 1: 88,307,481 (GRCm39) N1050K possibly damaging Het
Tuba8 A T 6: 121,202,980 (GRCm39) D431V probably damaging Het
Ucn2 C T 9: 108,815,322 (GRCm39) T28I possibly damaging Het
Vmn1r21 C T 6: 57,820,877 (GRCm39) G189D probably damaging Het
Vmn2r8 T C 5: 108,945,522 (GRCm39) N695S possibly damaging Het
Xirp2 A C 2: 67,355,904 (GRCm39) N3555T possibly damaging Het
Zfp119a A T 17: 56,173,158 (GRCm39) H228Q probably damaging Het
Zfr T A 15: 12,153,068 (GRCm39) H566Q probably benign Het
Other mutations in Prrc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Prrc2a APN 17 35,373,959 (GRCm39) missense probably damaging 0.99
IGL01083:Prrc2a APN 17 35,375,177 (GRCm39) missense possibly damaging 0.93
IGL01394:Prrc2a APN 17 35,372,080 (GRCm39) missense probably benign 0.00
IGL01618:Prrc2a APN 17 35,368,529 (GRCm39) missense probably damaging 1.00
IGL01700:Prrc2a APN 17 35,369,643 (GRCm39) missense possibly damaging 0.93
IGL01937:Prrc2a APN 17 35,374,567 (GRCm39) missense possibly damaging 0.63
IGL02407:Prrc2a APN 17 35,379,480 (GRCm39) missense unknown
IGL02683:Prrc2a APN 17 35,374,969 (GRCm39) missense probably benign 0.00
R0145:Prrc2a UTSW 17 35,374,796 (GRCm39) missense probably benign
R0309:Prrc2a UTSW 17 35,369,891 (GRCm39) splice site probably benign
R0441:Prrc2a UTSW 17 35,368,664 (GRCm39) splice site probably benign
R0617:Prrc2a UTSW 17 35,372,536 (GRCm39) missense probably damaging 1.00
R0645:Prrc2a UTSW 17 35,375,308 (GRCm39) missense probably damaging 0.99
R1351:Prrc2a UTSW 17 35,376,863 (GRCm39) missense possibly damaging 0.86
R1432:Prrc2a UTSW 17 35,372,888 (GRCm39) splice site probably benign
R1490:Prrc2a UTSW 17 35,372,230 (GRCm39) missense probably benign
R1643:Prrc2a UTSW 17 35,375,930 (GRCm39) missense probably damaging 0.99
R1734:Prrc2a UTSW 17 35,369,683 (GRCm39) missense possibly damaging 0.93
R1869:Prrc2a UTSW 17 35,372,284 (GRCm39) missense possibly damaging 0.93
R1937:Prrc2a UTSW 17 35,376,884 (GRCm39) missense probably damaging 0.99
R1995:Prrc2a UTSW 17 35,376,405 (GRCm39) missense probably damaging 0.98
R2257:Prrc2a UTSW 17 35,380,044 (GRCm39) missense unknown
R2270:Prrc2a UTSW 17 35,368,512 (GRCm39) missense possibly damaging 0.91
R3940:Prrc2a UTSW 17 35,376,474 (GRCm39) missense possibly damaging 0.86
R3973:Prrc2a UTSW 17 35,376,908 (GRCm39) missense probably damaging 0.99
R4569:Prrc2a UTSW 17 35,377,473 (GRCm39) missense unknown
R4655:Prrc2a UTSW 17 35,374,590 (GRCm39) missense probably benign 0.00
R4792:Prrc2a UTSW 17 35,375,463 (GRCm39) missense probably damaging 0.96
R4797:Prrc2a UTSW 17 35,369,018 (GRCm39) missense probably damaging 1.00
R4798:Prrc2a UTSW 17 35,369,018 (GRCm39) missense probably damaging 1.00
R4799:Prrc2a UTSW 17 35,369,018 (GRCm39) missense probably damaging 1.00
R5004:Prrc2a UTSW 17 35,368,974 (GRCm39) missense probably benign 0.11
R5129:Prrc2a UTSW 17 35,379,154 (GRCm39) missense unknown
R5155:Prrc2a UTSW 17 35,379,067 (GRCm39) splice site probably null
R5210:Prrc2a UTSW 17 35,372,596 (GRCm39) missense probably damaging 0.99
R5308:Prrc2a UTSW 17 35,380,023 (GRCm39) missense unknown
R5474:Prrc2a UTSW 17 35,378,189 (GRCm39) missense unknown
R5775:Prrc2a UTSW 17 35,377,463 (GRCm39) missense unknown
R5934:Prrc2a UTSW 17 35,369,060 (GRCm39) missense probably damaging 0.98
R6057:Prrc2a UTSW 17 35,371,716 (GRCm39) missense probably benign 0.00
R6291:Prrc2a UTSW 17 35,373,909 (GRCm39) missense probably damaging 0.99
R6535:Prrc2a UTSW 17 35,381,241 (GRCm39) missense unknown
R6622:Prrc2a UTSW 17 35,374,396 (GRCm39) missense probably damaging 0.98
R6887:Prrc2a UTSW 17 35,374,651 (GRCm39) missense probably damaging 0.99
R6971:Prrc2a UTSW 17 35,378,477 (GRCm39) splice site probably null
R7026:Prrc2a UTSW 17 35,380,803 (GRCm39) missense unknown
R7059:Prrc2a UTSW 17 35,376,364 (GRCm39) missense probably damaging 0.99
R7502:Prrc2a UTSW 17 35,381,286 (GRCm39) missense unknown
R7951:Prrc2a UTSW 17 35,379,477 (GRCm39) missense unknown
R8061:Prrc2a UTSW 17 35,380,162 (GRCm39) splice site probably benign
R8324:Prrc2a UTSW 17 35,375,960 (GRCm39) missense possibly damaging 0.46
R8705:Prrc2a UTSW 17 35,372,542 (GRCm39) missense possibly damaging 0.92
R9016:Prrc2a UTSW 17 35,378,844 (GRCm39) missense unknown
R9310:Prrc2a UTSW 17 35,374,975 (GRCm39) missense probably benign 0.38
R9376:Prrc2a UTSW 17 35,369,598 (GRCm39) missense possibly damaging 0.85
R9645:Prrc2a UTSW 17 35,381,176 (GRCm39) critical splice donor site probably null
R9703:Prrc2a UTSW 17 35,378,320 (GRCm39) missense unknown
X0011:Prrc2a UTSW 17 35,374,874 (GRCm39) missense probably damaging 0.99
Z1177:Prrc2a UTSW 17 35,380,336 (GRCm39) missense unknown
Z1177:Prrc2a UTSW 17 35,374,676 (GRCm39) missense probably damaging 0.99
Z1177:Prrc2a UTSW 17 35,373,791 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGCTACGAGCCTCAGGAAG -3'
(R):5'- CACAGATGATTATGCTGTATCTCACC -3'

Sequencing Primer
(F):5'- GAAGTCCCACAGCTATCTACCTCTTG -3'
(R):5'- CTTTCCCAGGAGAGCTTAAGAG -3'
Posted On 2019-10-07