Incidental Mutation 'R2257:Prrc2a'
ID 243482
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 040257-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R2257 (G1)
Quality Score 214
Status Validated
Chromosome 17
Chromosomal Location 35368052-35383873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35380044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 185 (P185L)
Ref Sequence ENSEMBL: ENSMUSP00000133550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025253] [ENSMUST00000174805]
AlphaFold Q7TSC1
Predicted Effect unknown
Transcript: ENSMUST00000025253
AA Change: P240L
SMART Domains Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: P240L

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 noncoding transcript
Transcript: ENSMUST00000082919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172929
Predicted Effect unknown
Transcript: ENSMUST00000174805
AA Change: P185L
SMART Domains Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: P185L

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
Meta Mutation Damage Score 0.1378 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (70/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik A T X: 69,438,012 (GRCm39) W94R probably damaging Het
Abcc3 C T 11: 94,254,420 (GRCm39) V693M probably damaging Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Ap1s1 T C 5: 137,070,633 (GRCm39) Y94C possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Cabs1 T C 5: 88,128,074 (GRCm39) S242P probably damaging Het
Cass4 T C 2: 172,269,390 (GRCm39) F493L probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cfap100 C G 6: 90,390,802 (GRCm39) R184P possibly damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Dhx36 C T 3: 62,385,064 (GRCm39) G683S probably damaging Het
Dnaaf11 T A 15: 66,309,436 (GRCm39) probably benign Het
Dnah10 T A 5: 124,838,301 (GRCm39) I1110N probably damaging Het
Dnajc3 C G 14: 119,210,114 (GRCm39) P322A probably benign Het
Eml4 A G 17: 83,785,189 (GRCm39) T785A probably damaging Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fcrl2 T C 3: 87,166,928 (GRCm39) I22V probably damaging Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Grm8 A T 6: 27,760,224 (GRCm39) C369S probably damaging Het
Hdc G A 2: 126,458,000 (GRCm39) probably null Het
Hsf3 A T X: 95,363,928 (GRCm39) L191* probably null Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Kif4 A T X: 99,769,737 (GRCm39) N1126Y probably benign Het
Lat2 T C 5: 134,631,481 (GRCm39) D191G probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Lmo7 T C 14: 102,137,566 (GRCm39) L634P probably damaging Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mgat4a T C 1: 37,529,394 (GRCm39) N24D probably benign Het
Mical3 A T 6: 121,010,696 (GRCm39) S429T possibly damaging Het
Mrps35 A G 6: 146,972,125 (GRCm39) E256G possibly damaging Het
Mybbp1a T A 11: 72,337,021 (GRCm39) S586T probably benign Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nob1 A G 8: 108,143,729 (GRCm39) probably benign Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or7g27 A G 9: 19,249,789 (GRCm39) E11G probably benign Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Pias3 C T 3: 96,606,962 (GRCm39) T75I probably benign Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Prss57 C T 10: 79,623,204 (GRCm39) C81Y probably damaging Het
Psen1 C T 12: 83,761,594 (GRCm39) S132L probably damaging Het
Ranbp6 A G 19: 29,788,949 (GRCm39) S468P possibly damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmprss7 A T 16: 45,506,696 (GRCm39) M122K possibly damaging Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Uap1 A T 1: 169,986,312 (GRCm39) probably benign Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps13a G A 19: 16,659,538 (GRCm39) T1663I possibly damaging Het
Vps13c A C 9: 67,860,228 (GRCm39) I2815L possibly damaging Het
Zc3h3 G T 15: 75,711,415 (GRCm39) Q349K possibly damaging 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
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
R7489:Prrc2a UTSW 17 35,381,330 (GRCm39) missense unknown
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'- GGATACATCTGCAAAACGGC -3'
(R):5'- TGGCCTAGACCAGTGGTAAC -3'

Sequencing Primer
(F):5'- GGGGACATATAGTCTACCAGCC -3'
(R):5'- GGCCTAGACCAGTGGTAACTTATC -3'
Posted On 2014-10-16