Incidental Mutation 'R0981:Prrc2c'
ID 97113
Institutional Source Beutler Lab
Gene Symbol Prrc2c
Ensembl Gene ENSMUSG00000040225
Gene Name proline-rich coiled-coil 2C
Synonyms 9630039I18Rik, Bat2d, 1810043M20Rik, Bat2l2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R0981 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 162499354-162568125 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 162533550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028016] [ENSMUST00000182149] [ENSMUST00000182393] [ENSMUST00000182593] [ENSMUST00000182660] [ENSMUST00000183011] [ENSMUST00000183223]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000028016
AA Change: V1020I
SMART Domains Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: V1020I

DomainStartEndE-ValueType
Pfam:BAT2_N 1 164 7.7e-56 PFAM
internal_repeat_2 167 349 4.39e-5 PROSPERO
internal_repeat_1 336 391 2.14e-5 PROSPERO
low complexity region 407 414 N/A INTRINSIC
SCOP:d1eq1a_ 447 591 2e-5 SMART
low complexity region 649 669 N/A INTRINSIC
low complexity region 733 745 N/A INTRINSIC
coiled coil region 996 1026 N/A INTRINSIC
low complexity region 1157 1186 N/A INTRINSIC
low complexity region 1212 1222 N/A INTRINSIC
internal_repeat_1 1240 1295 2.14e-5 PROSPERO
low complexity region 1308 1335 N/A INTRINSIC
low complexity region 1388 1409 N/A INTRINSIC
low complexity region 1715 1746 N/A INTRINSIC
low complexity region 1765 1803 N/A INTRINSIC
low complexity region 1815 1832 N/A INTRINSIC
low complexity region 1844 1909 N/A INTRINSIC
internal_repeat_2 1962 2148 4.39e-5 PROSPERO
low complexity region 2163 2177 N/A INTRINSIC
low complexity region 2230 2252 N/A INTRINSIC
low complexity region 2272 2286 N/A INTRINSIC
low complexity region 2321 2338 N/A INTRINSIC
low complexity region 2427 2438 N/A INTRINSIC
low complexity region 2553 2576 N/A INTRINSIC
low complexity region 2811 2828 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182149
AA Change: V1022I
SMART Domains Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: V1022I

DomainStartEndE-ValueType
Pfam:BAT2_N 1 167 5.6e-73 PFAM
internal_repeat_1 336 391 1.49e-5 PROSPERO
low complexity region 407 414 N/A INTRINSIC
SCOP:d1eq1a_ 447 591 2e-5 SMART
low complexity region 649 669 N/A INTRINSIC
low complexity region 733 745 N/A INTRINSIC
internal_repeat_3 754 925 9.16e-5 PROSPERO
coiled coil region 996 1026 N/A INTRINSIC
low complexity region 1157 1186 N/A INTRINSIC
low complexity region 1212 1222 N/A INTRINSIC
internal_repeat_1 1240 1295 1.49e-5 PROSPERO
low complexity region 1308 1335 N/A INTRINSIC
low complexity region 1388 1409 N/A INTRINSIC
low complexity region 1715 1746 N/A INTRINSIC
low complexity region 1765 1803 N/A INTRINSIC
low complexity region 1815 1832 N/A INTRINSIC
low complexity region 1844 1909 N/A INTRINSIC
internal_repeat_2 1962 2148 3.08e-5 PROSPERO
internal_repeat_3 1983 2153 9.16e-5 PROSPERO
low complexity region 2163 2177 N/A INTRINSIC
low complexity region 2230 2252 N/A INTRINSIC
low complexity region 2272 2286 N/A INTRINSIC
low complexity region 2321 2338 N/A INTRINSIC
low complexity region 2427 2438 N/A INTRINSIC
low complexity region 2553 2576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182393
SMART Domains Protein: ENSMUSP00000138451
Gene: ENSMUSG00000040225

DomainStartEndE-ValueType
low complexity region 24 51 N/A INTRINSIC
low complexity region 104 125 N/A INTRINSIC
low complexity region 431 462 N/A INTRINSIC
low complexity region 481 519 N/A INTRINSIC
low complexity region 531 548 N/A INTRINSIC
low complexity region 560 625 N/A INTRINSIC
low complexity region 879 893 N/A INTRINSIC
low complexity region 946 968 N/A INTRINSIC
low complexity region 988 1002 N/A INTRINSIC
low complexity region 1037 1054 N/A INTRINSIC
low complexity region 1143 1154 N/A INTRINSIC
low complexity region 1274 1297 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182593
AA Change: V1020I
SMART Domains Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: V1020I

DomainStartEndE-ValueType
Pfam:BAT2_N 1 165 4.1e-70 PFAM
internal_repeat_1 334 389 9.57e-6 PROSPERO
low complexity region 405 412 N/A INTRINSIC
SCOP:d1eq1a_ 445 589 3e-5 SMART
low complexity region 647 667 N/A INTRINSIC
low complexity region 731 743 N/A INTRINSIC
internal_repeat_3 752 923 6.11e-5 PROSPERO
coiled coil region 994 1024 N/A INTRINSIC
low complexity region 1155 1184 N/A INTRINSIC
low complexity region 1210 1220 N/A INTRINSIC
internal_repeat_1 1238 1293 9.57e-6 PROSPERO
low complexity region 1306 1333 N/A INTRINSIC
low complexity region 1386 1407 N/A INTRINSIC
low complexity region 1713 1744 N/A INTRINSIC
low complexity region 1763 1801 N/A INTRINSIC
low complexity region 1813 1830 N/A INTRINSIC
low complexity region 1842 1907 N/A INTRINSIC
internal_repeat_2 1960 2146 2.01e-5 PROSPERO
internal_repeat_3 1981 2151 6.11e-5 PROSPERO
low complexity region 2161 2175 N/A INTRINSIC
low complexity region 2228 2250 N/A INTRINSIC
low complexity region 2270 2284 N/A INTRINSIC
low complexity region 2319 2336 N/A INTRINSIC
low complexity region 2425 2436 N/A INTRINSIC
low complexity region 2551 2574 N/A INTRINSIC
low complexity region 2671 2682 N/A INTRINSIC
low complexity region 2730 2747 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182660
AA Change: V1022I
SMART Domains Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: V1022I

DomainStartEndE-ValueType
Pfam:BAT2_N 1 167 7e-73 PFAM
internal_repeat_1 336 391 2.14e-5 PROSPERO
low complexity region 407 414 N/A INTRINSIC
SCOP:d1eq1a_ 447 591 2e-5 SMART
low complexity region 649 669 N/A INTRINSIC
low complexity region 733 745 N/A INTRINSIC
coiled coil region 996 1026 N/A INTRINSIC
low complexity region 1157 1186 N/A INTRINSIC
low complexity region 1212 1222 N/A INTRINSIC
internal_repeat_1 1240 1295 2.14e-5 PROSPERO
low complexity region 1308 1335 N/A INTRINSIC
low complexity region 1388 1409 N/A INTRINSIC
low complexity region 1715 1746 N/A INTRINSIC
low complexity region 1765 1803 N/A INTRINSIC
low complexity region 1815 1832 N/A INTRINSIC
low complexity region 1844 1909 N/A INTRINSIC
internal_repeat_2 1962 2148 4.39e-5 PROSPERO
low complexity region 2163 2177 N/A INTRINSIC
low complexity region 2230 2252 N/A INTRINSIC
low complexity region 2272 2286 N/A INTRINSIC
low complexity region 2321 2338 N/A INTRINSIC
low complexity region 2427 2438 N/A INTRINSIC
low complexity region 2553 2576 N/A INTRINSIC
low complexity region 2811 2828 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183011
SMART Domains Protein: ENSMUSP00000138609
Gene: ENSMUSG00000040225

DomainStartEndE-ValueType
Pfam:BAT2_N 1 160 3.2e-64 PFAM
low complexity region 400 407 N/A INTRINSIC
coiled coil region 443 560 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183223
SMART Domains Protein: ENSMUSP00000138698
Gene: ENSMUSG00000040225

DomainStartEndE-ValueType
low complexity region 289 320 N/A INTRINSIC
low complexity region 339 377 N/A INTRINSIC
low complexity region 389 406 N/A INTRINSIC
low complexity region 418 483 N/A INTRINSIC
low complexity region 739 761 N/A INTRINSIC
low complexity region 781 795 N/A INTRINSIC
low complexity region 830 847 N/A INTRINSIC
low complexity region 936 947 N/A INTRINSIC
low complexity region 1062 1085 N/A INTRINSIC
low complexity region 1182 1193 N/A INTRINSIC
low complexity region 1241 1258 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.4%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,831,257 (GRCm39) C942S probably damaging Het
Alpk1 T C 3: 127,473,051 (GRCm39) N984S possibly damaging Het
Ankrd55 T C 13: 112,459,610 (GRCm39) V68A possibly damaging Het
Asap2 T C 12: 21,315,961 (GRCm39) S960P probably damaging Het
Atp2b1 T A 10: 98,851,491 (GRCm39) N66K probably damaging Het
Cckar C T 5: 53,863,632 (GRCm39) G39R probably damaging Het
Cimap1a A G 7: 140,428,208 (GRCm39) M7V probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Cpb1 C A 3: 20,329,654 (GRCm39) R24L probably benign Het
Dlg5 T G 14: 24,204,699 (GRCm39) R1258S probably damaging Het
Fanci A G 7: 79,054,914 (GRCm39) Q148R probably benign Het
Fcgbp T A 7: 27,784,535 (GRCm39) Y198* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Garin5b T A 7: 4,760,588 (GRCm39) probably null Het
Glis1 A G 4: 107,472,239 (GRCm39) E272G probably damaging Het
Gm13741 T C 2: 87,486,578 (GRCm39) N229S probably benign Het
Gsdmc4 T A 15: 63,763,922 (GRCm39) I392F probably damaging Het
H2-M2 T C 17: 37,793,521 (GRCm39) T162A probably benign Het
Hk2 G A 6: 82,720,949 (GRCm39) R190W probably damaging Het
Irf1 T C 11: 53,664,548 (GRCm39) *52R probably null Het
Lman2l T A 1: 36,484,314 (GRCm39) M1L unknown Het
Mgat1 C T 11: 49,151,882 (GRCm39) R122C probably damaging Het
Mtrf1 T C 14: 79,639,030 (GRCm39) L54S probably benign Het
Myo5c A T 9: 75,178,873 (GRCm39) L676F probably damaging Het
Ofcc1 A G 13: 40,226,174 (GRCm39) I786T probably damaging Het
Or5p64 AGGT A 7: 107,855,228 (GRCm39) probably benign Het
Or5p64 GGTAG GG 7: 107,855,229 (GRCm39) probably benign Het
Pfn1 G A 11: 70,542,964 (GRCm39) R137C probably benign Het
Pgbd5 G A 8: 125,111,032 (GRCm39) R129* probably null Het
Pibf1 T C 14: 99,388,179 (GRCm39) probably null Het
Pkd2l1 A G 19: 44,142,861 (GRCm39) probably null Het
Plin5 C A 17: 56,421,020 (GRCm39) R215L probably damaging Het
Rnasel T G 1: 153,635,345 (GRCm39) C608G probably benign Het
Slc28a2 T A 2: 122,281,465 (GRCm39) V218D probably damaging Het
Snx1 T C 9: 66,016,841 (GRCm39) I29V probably benign Het
Tenm3 A G 8: 48,752,000 (GRCm39) W939R probably damaging Het
Tmem237 C A 1: 59,157,164 (GRCm39) R15L probably damaging Het
Tmx3 T C 18: 90,555,324 (GRCm39) V347A probably benign Het
Vmn1r191 T C 13: 22,363,389 (GRCm39) T122A probably benign Het
Wdfy4 G T 14: 32,869,049 (GRCm39) N326K probably benign Het
Zfp408 A G 2: 91,475,528 (GRCm39) L642P probably benign Het
Zfp808 C A 13: 62,319,487 (GRCm39) H239N possibly damaging Het
Other mutations in Prrc2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Prrc2c APN 1 162,548,182 (GRCm39) splice site probably null
IGL00577:Prrc2c APN 1 162,525,685 (GRCm39) missense unknown
IGL00580:Prrc2c APN 1 162,525,685 (GRCm39) missense unknown
IGL01295:Prrc2c APN 1 162,510,061 (GRCm39) missense probably damaging 1.00
IGL01554:Prrc2c APN 1 162,538,355 (GRCm39) missense probably damaging 0.99
IGL01684:Prrc2c APN 1 162,534,031 (GRCm39) unclassified probably benign
IGL01745:Prrc2c APN 1 162,552,297 (GRCm39) missense probably damaging 1.00
IGL01770:Prrc2c APN 1 162,532,068 (GRCm39) missense probably benign 0.23
IGL01905:Prrc2c APN 1 162,532,898 (GRCm39) unclassified probably benign
IGL02304:Prrc2c APN 1 162,511,705 (GRCm39) missense probably benign 0.05
IGL02389:Prrc2c APN 1 162,520,439 (GRCm39) missense probably damaging 1.00
IGL02540:Prrc2c APN 1 162,550,706 (GRCm39) missense probably damaging 1.00
IGL02681:Prrc2c APN 1 162,533,181 (GRCm39) unclassified probably benign
IGL02686:Prrc2c APN 1 162,535,516 (GRCm39) unclassified probably benign
IGL02795:Prrc2c APN 1 162,541,868 (GRCm39) missense probably benign
IGL02894:Prrc2c APN 1 162,505,626 (GRCm39) missense probably damaging 1.00
IGL02957:Prrc2c APN 1 162,534,104 (GRCm39) unclassified probably benign
IGL02981:Prrc2c APN 1 162,532,748 (GRCm39) unclassified probably benign
IGL03070:Prrc2c APN 1 162,504,978 (GRCm39) missense probably damaging 1.00
IGL03096:Prrc2c APN 1 162,529,928 (GRCm39) missense unknown
R0058:Prrc2c UTSW 1 162,526,453 (GRCm39) missense unknown
R0058:Prrc2c UTSW 1 162,526,453 (GRCm39) missense unknown
R0135:Prrc2c UTSW 1 162,543,052 (GRCm39) splice site probably benign
R0279:Prrc2c UTSW 1 162,543,033 (GRCm39) missense probably damaging 1.00
R0363:Prrc2c UTSW 1 162,525,380 (GRCm39) missense unknown
R0436:Prrc2c UTSW 1 162,532,883 (GRCm39) unclassified probably benign
R0605:Prrc2c UTSW 1 162,509,995 (GRCm39) missense probably damaging 1.00
R0696:Prrc2c UTSW 1 162,536,421 (GRCm39) critical splice donor site probably null
R1693:Prrc2c UTSW 1 162,546,282 (GRCm39) missense probably damaging 0.98
R1714:Prrc2c UTSW 1 162,504,945 (GRCm39) missense probably damaging 1.00
R1791:Prrc2c UTSW 1 162,532,551 (GRCm39) unclassified probably benign
R1794:Prrc2c UTSW 1 162,533,528 (GRCm39) unclassified probably benign
R1998:Prrc2c UTSW 1 162,532,487 (GRCm39) unclassified probably benign
R2040:Prrc2c UTSW 1 162,525,126 (GRCm39) missense probably damaging 1.00
R2168:Prrc2c UTSW 1 162,537,903 (GRCm39) unclassified probably benign
R2246:Prrc2c UTSW 1 162,535,360 (GRCm39) unclassified probably benign
R2830:Prrc2c UTSW 1 162,536,485 (GRCm39) unclassified probably benign
R2926:Prrc2c UTSW 1 162,533,696 (GRCm39) unclassified probably benign
R3703:Prrc2c UTSW 1 162,538,260 (GRCm39) missense probably damaging 1.00
R3745:Prrc2c UTSW 1 162,525,754 (GRCm39) missense unknown
R3760:Prrc2c UTSW 1 162,520,420 (GRCm39) missense probably damaging 1.00
R3784:Prrc2c UTSW 1 162,537,238 (GRCm39) unclassified probably benign
R3959:Prrc2c UTSW 1 162,536,461 (GRCm39) unclassified probably benign
R4255:Prrc2c UTSW 1 162,533,895 (GRCm39) unclassified probably benign
R4276:Prrc2c UTSW 1 162,501,160 (GRCm39) missense probably damaging 1.00
R4421:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R4593:Prrc2c UTSW 1 162,525,101 (GRCm39) missense probably damaging 1.00
R4651:Prrc2c UTSW 1 162,550,843 (GRCm39) missense probably damaging 1.00
R4652:Prrc2c UTSW 1 162,550,843 (GRCm39) missense probably damaging 1.00
R4660:Prrc2c UTSW 1 162,508,464 (GRCm39) missense probably damaging 1.00
R4677:Prrc2c UTSW 1 162,532,748 (GRCm39) unclassified probably benign
R4688:Prrc2c UTSW 1 162,525,256 (GRCm39) missense unknown
R4753:Prrc2c UTSW 1 162,518,799 (GRCm39) missense probably damaging 1.00
R4790:Prrc2c UTSW 1 162,538,050 (GRCm39) missense unknown
R4981:Prrc2c UTSW 1 162,520,116 (GRCm39) missense probably damaging 1.00
R4995:Prrc2c UTSW 1 162,532,879 (GRCm39) unclassified probably benign
R5119:Prrc2c UTSW 1 162,533,009 (GRCm39) unclassified probably benign
R5127:Prrc2c UTSW 1 162,525,415 (GRCm39) missense unknown
R5291:Prrc2c UTSW 1 162,533,151 (GRCm39) unclassified probably benign
R5474:Prrc2c UTSW 1 162,537,213 (GRCm39) unclassified probably benign
R5543:Prrc2c UTSW 1 162,501,080 (GRCm39) missense probably damaging 0.99
R5579:Prrc2c UTSW 1 162,508,327 (GRCm39) critical splice donor site probably null
R5594:Prrc2c UTSW 1 162,526,600 (GRCm39) missense unknown
R5620:Prrc2c UTSW 1 162,501,098 (GRCm39) missense probably damaging 1.00
R5994:Prrc2c UTSW 1 162,501,725 (GRCm39) splice site probably null
R6142:Prrc2c UTSW 1 162,537,956 (GRCm39) missense unknown
R6199:Prrc2c UTSW 1 162,510,085 (GRCm39) missense probably damaging 1.00
R6277:Prrc2c UTSW 1 162,541,883 (GRCm39) missense probably benign
R6504:Prrc2c UTSW 1 162,525,364 (GRCm39) missense unknown
R6671:Prrc2c UTSW 1 162,525,154 (GRCm39) missense probably damaging 1.00
R6785:Prrc2c UTSW 1 162,536,670 (GRCm39) unclassified probably benign
R6799:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6801:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6850:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6851:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6856:Prrc2c UTSW 1 162,509,940 (GRCm39) missense probably damaging 1.00
R6869:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6882:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6884:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R6897:Prrc2c UTSW 1 162,533,075 (GRCm39) unclassified probably benign
R6934:Prrc2c UTSW 1 162,548,074 (GRCm39) missense probably benign 0.10
R6976:Prrc2c UTSW 1 162,520,413 (GRCm39) missense probably damaging 1.00
R7132:Prrc2c UTSW 1 162,508,850 (GRCm39) missense possibly damaging 0.77
R7165:Prrc2c UTSW 1 162,501,086 (GRCm39) missense possibly damaging 0.94
R7282:Prrc2c UTSW 1 162,507,543 (GRCm39) missense possibly damaging 0.59
R7467:Prrc2c UTSW 1 162,504,932 (GRCm39) missense possibly damaging 0.84
R7915:Prrc2c UTSW 1 162,519,977 (GRCm39) missense probably benign 0.39
R8068:Prrc2c UTSW 1 162,536,630 (GRCm39) unclassified probably benign
R8529:Prrc2c UTSW 1 162,536,663 (GRCm39) unclassified probably benign
R8734:Prrc2c UTSW 1 162,507,081 (GRCm39) missense possibly damaging 0.92
R8735:Prrc2c UTSW 1 162,537,127 (GRCm39) missense unknown
R8813:Prrc2c UTSW 1 162,532,812 (GRCm39) missense unknown
R8946:Prrc2c UTSW 1 162,536,478 (GRCm39) unclassified probably benign
R8975:Prrc2c UTSW 1 162,533,630 (GRCm39) missense unknown
R9035:Prrc2c UTSW 1 162,503,295 (GRCm39) missense possibly damaging 0.96
R9185:Prrc2c UTSW 1 162,532,212 (GRCm39) missense unknown
R9261:Prrc2c UTSW 1 162,505,622 (GRCm39) missense possibly damaging 0.48
R9287:Prrc2c UTSW 1 162,541,843 (GRCm39) missense probably benign 0.34
R9289:Prrc2c UTSW 1 162,507,130 (GRCm39) missense probably benign 0.33
R9466:Prrc2c UTSW 1 162,503,258 (GRCm39) missense possibly damaging 0.53
R9523:Prrc2c UTSW 1 162,525,298 (GRCm39) missense unknown
R9542:Prrc2c UTSW 1 162,508,359 (GRCm39) missense possibly damaging 0.88
R9629:Prrc2c UTSW 1 162,519,959 (GRCm39) missense possibly damaging 0.95
R9744:Prrc2c UTSW 1 162,505,733 (GRCm39) missense possibly damaging 0.96
R9748:Prrc2c UTSW 1 162,535,435 (GRCm39) missense unknown
X0020:Prrc2c UTSW 1 162,535,416 (GRCm39) unclassified probably benign
X0039:Prrc2c UTSW 1 162,532,362 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCTGCAACGCTTTGCTGGTTTAC -3'
(R):5'- ACCATGCTCAGAATGCAGAGGAAC -3'

Sequencing Primer
(F):5'- CAACAGGTTCCAAAGGTTTCTC -3'
(R):5'- GATCTTCTGAAGGGCCTAAACCAG -3'
Posted On 2014-01-05