Incidental Mutation 'IGL02795:Prrc2c'
ID 359953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prrc2c
Ensembl Gene ENSMUSG00000040225
Gene Name proline-rich coiled-coil 2C
Synonyms 9630039I18Rik, Bat2d, 1810043M20Rik, Bat2l2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # IGL02795
Quality Score
Status
Chromosome 1
Chromosomal Location 162499354-162568125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 162541868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 374 (P374T)
Ref Sequence ENSEMBL: ENSMUSP00000138609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028016] [ENSMUST00000182149] [ENSMUST00000182593] [ENSMUST00000182660] [ENSMUST00000183011]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000028016
AA Change: P379T
SMART Domains Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: P379T

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: P381T
SMART Domains Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: P381T

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 noncoding transcript
Transcript: ENSMUST00000182448
Predicted Effect unknown
Transcript: ENSMUST00000182593
AA Change: P379T
SMART Domains Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: P379T

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: P381T
SMART Domains Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: P381T

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: P374T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138609
Gene: ENSMUSG00000040225
AA Change: P374T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,327,907 (GRCm39) L1391P probably damaging Het
Abcc3 G A 11: 94,252,468 (GRCm39) probably benign Het
Acvr1 A G 2: 58,352,964 (GRCm39) I332T probably damaging Het
Atp8a2 C T 14: 60,271,191 (GRCm39) V247M probably damaging Het
Btn1a1 T C 13: 23,644,786 (GRCm39) probably null Het
Btnl9 A T 11: 49,065,694 (GRCm39) probably benign Het
Dbx1 T A 7: 49,286,325 (GRCm39) I47F probably benign Het
Dennd2b T C 7: 109,155,571 (GRCm39) Y393C probably damaging Het
Dnaja3 A G 16: 4,507,937 (GRCm39) probably benign Het
Dnmt1 T C 9: 20,838,407 (GRCm39) S220G probably benign Het
Dock9 A T 14: 121,877,390 (GRCm39) M451K probably benign Het
Eml3 A G 19: 8,911,142 (GRCm39) Y257C probably benign Het
Fam3d T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Fbxw19 C A 9: 109,324,886 (GRCm39) M10I possibly damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Galnt5 C A 2: 57,917,883 (GRCm39) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm39) P6Q probably damaging Het
Gm13199 A G 2: 5,867,484 (GRCm39) probably benign Het
Gpr45 C T 1: 43,071,653 (GRCm39) R99C possibly damaging Het
Hecw1 G A 13: 14,497,102 (GRCm39) S302L probably damaging Het
Hrg T C 16: 22,776,303 (GRCm39) probably benign Het
Lama1 A G 17: 68,045,889 (GRCm39) probably null Het
Lgr4 T C 2: 109,838,555 (GRCm39) probably benign Het
Lrrc9 C T 12: 72,525,542 (GRCm39) T830M probably damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mms19 C T 19: 41,940,845 (GRCm39) probably null Het
Nectin1 A G 9: 43,714,849 (GRCm39) S362G probably benign Het
Nlrc3 G T 16: 3,783,149 (GRCm39) H87N probably damaging Het
Or1e17 G A 11: 73,831,755 (GRCm39) V228I probably benign Het
Or2ah1 T A 2: 85,653,856 (GRCm39) C180* probably null Het
Or4b13 A G 2: 90,082,906 (GRCm39) L142P probably damaging Het
Or52a20 T A 7: 103,366,090 (GRCm39) F96L probably benign Het
Or5h17 G T 16: 58,820,640 (GRCm39) L197F possibly damaging Het
Pcsk1 G T 13: 75,260,739 (GRCm39) G321C probably damaging Het
Poglut3 A G 9: 53,303,405 (GRCm39) D99G probably damaging Het
Rusc1 A T 3: 88,999,257 (GRCm39) L175Q probably damaging Het
Ryr2 T C 13: 11,610,076 (GRCm39) N4250S probably benign Het
Scara5 A C 14: 65,968,129 (GRCm39) N134T possibly damaging Het
Sema4d T C 13: 51,857,447 (GRCm39) K595R probably benign Het
Serpinb6a A C 13: 34,115,576 (GRCm39) L15R probably damaging Het
Setdb1 A T 3: 95,234,684 (GRCm39) N1006K probably damaging Het
Slc18a2 G A 19: 59,262,922 (GRCm39) probably benign Het
Slc22a30 C T 19: 8,378,259 (GRCm39) C139Y probably damaging Het
Slc25a27 T A 17: 43,958,003 (GRCm39) Y269F probably damaging Het
Slc9c1 A T 16: 45,395,782 (GRCm39) D611V probably benign Het
Spag6 G T 2: 18,737,894 (GRCm39) V255F probably benign Het
Svep1 C A 4: 58,123,223 (GRCm39) G698W probably damaging Het
Syne2 T C 12: 76,013,323 (GRCm39) L2839P probably damaging Het
Tfb2m T C 1: 179,373,524 (GRCm39) E58G possibly damaging Het
Trim24 A T 6: 37,896,324 (GRCm39) E260D probably damaging Het
Ugt2b1 T A 5: 87,065,560 (GRCm39) D493V probably damaging Het
Vmn1r27 A G 6: 58,192,287 (GRCm39) V189A possibly damaging Het
Vmn2r91 A G 17: 18,305,539 (GRCm39) Q74R probably benign Het
Vps25 A G 11: 101,146,916 (GRCm39) Y64C probably damaging Het
Xirp2 G A 2: 67,339,480 (GRCm39) G574S probably damaging Het
Ythdc2 A G 18: 44,970,505 (GRCm39) E273G 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
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
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
Posted On 2015-12-18