Incidental Mutation 'R1490:Prrc2a'
ID 163684
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 039542-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R1490 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35368052-35383873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35372230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1757 (S1757P)
Ref Sequence ENSEMBL: ENSMUSP00000025253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025253] [ENSMUST00000174805]
AlphaFold Q7TSC1
Predicted Effect probably benign
Transcript: ENSMUST00000025253
AA Change: S1757P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
AA Change: S1757P

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: ENSMUST00000172899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174386
Predicted Effect unknown
Transcript: ENSMUST00000174805
AA Change: S1702P
SMART Domains Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
AA Change: S1702P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 G A 10: 83,356,234 (GRCm39) T52I probably damaging Het
Arhgef28 G A 13: 98,114,952 (GRCm39) R633W probably damaging Het
Atg9a T C 1: 75,162,389 (GRCm39) N507S possibly damaging Het
Bsn A G 9: 107,991,193 (GRCm39) S1520P probably benign Het
Cacul1 G T 19: 60,568,837 (GRCm39) A107E probably damaging Het
Cd74 A G 18: 60,944,438 (GRCm39) D216G probably damaging Het
Cdh16 A T 8: 105,348,702 (GRCm39) W109R probably damaging Het
Cdip1 C T 16: 4,586,775 (GRCm39) V100I probably damaging Het
Ceacam3 A G 7: 16,897,071 (GRCm39) D679G probably damaging Het
Comp A G 8: 70,826,563 (GRCm39) D46G possibly damaging Het
Dlx3 T C 11: 95,011,430 (GRCm39) Y95H probably benign Het
Dmrta2 T C 4: 109,837,072 (GRCm39) S5P unknown Het
E130308A19Rik A G 4: 59,719,746 (GRCm39) Y426C probably damaging Het
Entpd3 A G 9: 120,383,225 (GRCm39) S87G probably benign Het
Eps8l1 A G 7: 4,473,888 (GRCm39) R232G probably damaging Het
Gart A T 16: 91,421,232 (GRCm39) V812D probably damaging Het
Gm10153 C T 7: 141,743,879 (GRCm39) C83Y unknown Het
Gpd2 T C 2: 57,245,487 (GRCm39) V394A probably damaging Het
Hpcal1 A T 12: 17,836,225 (GRCm39) E18D probably benign Het
Mdga2 T C 12: 66,844,530 (GRCm39) D156G probably benign Het
Mks1 A G 11: 87,753,595 (GRCm39) K510E probably benign Het
Ms4a19 A G 19: 11,118,902 (GRCm39) I69T probably benign Het
Mtmr4 G A 11: 87,503,051 (GRCm39) R1035Q probably damaging Het
Myh6 T A 14: 55,200,175 (GRCm39) K235* probably null Het
Nedd1 A G 10: 92,536,660 (GRCm39) F214S probably damaging Het
Or1e32 A G 11: 73,705,197 (GRCm39) V237A possibly damaging Het
Or1o3 A G 17: 37,573,733 (GRCm39) M274T probably benign Het
Or2l13 T C 16: 19,305,672 (GRCm39) M28T probably benign Het
Or52e15 A G 7: 104,645,700 (GRCm39) I137T possibly damaging Het
Pfkfb2 A C 1: 130,625,626 (GRCm39) probably null Het
Pfkfb4 T C 9: 108,856,688 (GRCm39) L398P probably damaging Het
Pfn3 T G 13: 55,562,732 (GRCm39) D83A probably damaging Het
Pi4ka C A 16: 17,204,132 (GRCm39) W54L probably damaging Het
Ppp3r1 A G 11: 17,148,275 (GRCm39) D161G probably benign Het
Samd7 A G 3: 30,812,502 (GRCm39) E314G probably benign Het
Slc17a4 A G 13: 24,088,736 (GRCm39) I217T probably benign Het
Slc22a1 A T 17: 12,881,780 (GRCm39) probably null Het
Slc7a7 C T 14: 54,646,103 (GRCm39) R120H probably damaging Het
Sos1 A T 17: 80,721,104 (GRCm39) H905Q probably benign Het
Thada G A 17: 84,754,029 (GRCm39) T314I possibly damaging Het
Tirap ACTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTG 9: 35,100,362 (GRCm39) probably benign Het
Tlr11 A C 14: 50,600,633 (GRCm39) H873P probably benign Het
Tlr4 A T 4: 66,757,611 (GRCm39) T135S possibly damaging Het
Tmem116 T C 5: 121,633,174 (GRCm39) S183P probably damaging Het
Tubgcp3 A T 8: 12,689,550 (GRCm39) I572K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C T 1: 188,092,038 (GRCm39) T523I probably benign Het
Usp40 G A 1: 87,916,687 (GRCm39) Q364* probably null Het
Vmn1r61 T C 7: 5,614,242 (GRCm39) Q24R probably benign Het
Wdfy4 C A 14: 32,874,495 (GRCm39) probably null Het
Zfp458 G A 13: 67,405,573 (GRCm39) P286S probably damaging Het
Zfp68 A T 5: 138,605,091 (GRCm39) C373S probably benign Het
Zfp768 T A 7: 126,942,803 (GRCm39) I442F probably damaging Het
Zfp990 A G 4: 145,263,853 (GRCm39) R284G 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
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
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'- ACCACTAGGCACAAGTCTGAGTCC -3'
(R):5'- CATCTGGCTCTGAACCCTCTGAAC -3'

Sequencing Primer
(F):5'- GCACAAGTCTGAGTCCTGTAATG -3'
(R):5'- CACCTGCTTCCCATGAAGG -3'
Posted On 2014-03-28