Incidental Mutation 'R6934:Prrc2c'
ID 540187
Institutional Source Beutler Lab
Gene Symbol Prrc2c
Ensembl Gene ENSMUSG00000040225
Gene Name proline-rich coiled-coil 2C
Synonyms 9630039I18Rik, Bat2d, 1810043M20Rik, Bat2l2
MMRRC Submission 045049-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R6934 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 162499354-162568125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 162548074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 161 (P161S)
Ref Sequence ENSEMBL: ENSMUSP00000138609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028016] [ENSMUST00000182149] [ENSMUST00000182331] [ENSMUST00000182593] [ENSMUST00000182660] [ENSMUST00000183011]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000028016
AA Change: P166S
SMART Domains Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: P166S

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: P168S
SMART Domains Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: P168S

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: ENSMUST00000182331
SMART Domains Protein: ENSMUSP00000138556
Gene: ENSMUSG00000040225

DomainStartEndE-ValueType
Pfam:BAT2_N 1 149 1e-68 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000182593
AA Change: P166S
SMART Domains Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: P166S

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: P168S
SMART Domains Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: P168S

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
AA Change: P161S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138609
Gene: ENSMUSG00000040225
AA Change: P161S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T A 8: 122,266,712 (GRCm39) Y58F probably benign Het
Asap2 T C 12: 21,218,251 (GRCm39) V58A probably damaging Het
Bccip A G 7: 133,322,520 (GRCm39) M289V probably benign Het
Bhmt2 A T 13: 93,798,819 (GRCm39) I334N probably benign Het
Copa T A 1: 171,938,253 (GRCm39) I513N possibly damaging Het
Cspg4b T C 13: 113,505,800 (GRCm39) S2310P probably benign Het
Ctif G A 18: 75,568,431 (GRCm39) T569M probably benign Het
Dennd1a A T 2: 37,691,225 (GRCm39) M231K possibly damaging Het
Dnah3 A G 7: 119,653,824 (GRCm39) probably null Het
Fat3 T C 9: 16,288,252 (GRCm39) I424V probably damaging Het
Foxred2 G T 15: 77,836,530 (GRCm39) C328* probably null Het
Gemin5 A T 11: 58,038,738 (GRCm39) H590Q probably damaging Het
Gm5475 T C 15: 100,325,007 (GRCm39) probably benign Het
Gmip A G 8: 70,273,576 (GRCm39) T956A probably benign Het
Hmbox1 A T 14: 65,134,281 (GRCm39) D106E probably benign Het
Irs2 A T 8: 11,054,697 (GRCm39) I1245N probably damaging Het
Kcnk1 A G 8: 126,752,129 (GRCm39) Y245C probably damaging Het
Krtap4-9 A T 11: 99,676,708 (GRCm39) R210* probably null Het
Lama1 A G 17: 68,081,538 (GRCm39) D1325G probably benign Het
Lyz3 C T 10: 117,074,413 (GRCm39) D25N probably benign Het
Mep1a A T 17: 43,793,121 (GRCm39) V361E probably damaging Het
Mrgprx2 A G 7: 48,131,813 (GRCm39) I92T possibly damaging Het
Nup214 A T 2: 31,872,683 (GRCm39) R242* probably null Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or13a24 T G 7: 140,154,564 (GRCm39) L166R probably damaging Het
Or5p60 A G 7: 107,724,026 (GRCm39) V148A probably benign Het
Or8b1c T G 9: 38,384,472 (GRCm39) I143S probably benign Het
Orc2 T C 1: 58,539,523 (GRCm39) K39E probably benign Het
Ppl C T 16: 4,912,373 (GRCm39) G736D probably benign Het
Ppp2r1a A G 17: 21,181,895 (GRCm39) E471G possibly damaging Het
Rnf213 A G 11: 119,310,893 (GRCm39) I804V probably benign Het
Saal1 A G 7: 46,352,088 (GRCm39) C144R probably benign Het
Slc29a4 G A 5: 142,698,713 (GRCm39) V125I probably benign Het
Smarcc2 A G 10: 128,305,541 (GRCm39) T322A probably benign Het
Srgap2 A T 1: 131,244,969 (GRCm39) M591K possibly damaging Het
Stard9 A G 2: 120,528,176 (GRCm39) I1478V probably benign Het
Tet2 A G 3: 133,188,998 (GRCm39) probably null Het
Tmem150c C T 5: 100,243,465 (GRCm39) probably null Het
Tmem39b T A 4: 129,572,366 (GRCm39) H412L possibly damaging Het
Tox A C 4: 6,697,635 (GRCm39) H389Q probably damaging Het
Trank1 T C 9: 111,202,158 (GRCm39) I1595T probably damaging Het
Vmn2r-ps117 T G 17: 19,044,967 (GRCm39) Y461* probably null Het
Vps13a T C 19: 16,653,558 (GRCm39) H1941R probably 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
R0981:Prrc2c UTSW 1 162,533,550 (GRCm39) unclassified probably benign
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
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'- ACAAGCTCTACAGTTACAGCAG -3'
(R):5'- ACTTTTCAAGGGCTTAGGTACAG -3'

Sequencing Primer
(F):5'- CAGCAGTACTATTGTTGGCAC -3'
(R):5'- CAAGAACTCTATCCTGGGAGGGTTAC -3'
Posted On 2018-11-06