Incidental Mutation 'R7293:Crocc'
ID 566541
Institutional Source Beutler Lab
Gene Symbol Crocc
Ensembl Gene ENSMUSG00000040860
Gene Name ciliary rootlet coiled-coil, rootletin
Synonyms
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R7293 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140743948-140787861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140770867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 351 (A351T)
Ref Sequence ENSEMBL: ENSMUSP00000099549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000144196] [ENSMUST00000168157]
AlphaFold Q8CJ40
Predicted Effect probably damaging
Transcript: ENSMUST00000040222
AA Change: A187T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: A187T

DomainStartEndE-ValueType
Pfam:Rootletin 1 173 6.1e-48 PFAM
low complexity region 190 217 N/A INTRINSIC
internal_repeat_2 298 315 1.08e-6 PROSPERO
low complexity region 329 350 N/A INTRINSIC
internal_repeat_3 363 393 5.38e-6 PROSPERO
internal_repeat_6 369 392 2.67e-5 PROSPERO
low complexity region 397 411 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 453 474 N/A INTRINSIC
low complexity region 624 643 N/A INTRINSIC
low complexity region 699 716 N/A INTRINSIC
low complexity region 845 875 N/A INTRINSIC
internal_repeat_4 886 904 2.67e-5 PROSPERO
internal_repeat_7 893 906 5.96e-5 PROSPERO
internal_repeat_2 893 910 1.08e-6 PROSPERO
internal_repeat_4 897 914 2.67e-5 PROSPERO
internal_repeat_1 912 937 1.97e-8 PROSPERO
internal_repeat_7 1028 1041 5.96e-5 PROSPERO
low complexity region 1107 1124 N/A INTRINSIC
internal_repeat_5 1138 1164 2.67e-5 PROSPERO
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1253 1269 N/A INTRINSIC
low complexity region 1270 1289 N/A INTRINSIC
low complexity region 1297 1309 N/A INTRINSIC
internal_repeat_6 1533 1556 2.67e-5 PROSPERO
low complexity region 1559 1576 N/A INTRINSIC
coiled coil region 1580 1707 N/A INTRINSIC
coiled coil region 1728 1832 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097816
AA Change: A187T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: A187T

DomainStartEndE-ValueType
Pfam:Rootletin 1 173 6.1e-48 PFAM
low complexity region 190 217 N/A INTRINSIC
internal_repeat_2 298 315 1.08e-6 PROSPERO
low complexity region 329 350 N/A INTRINSIC
internal_repeat_3 363 393 5.38e-6 PROSPERO
internal_repeat_6 369 392 2.67e-5 PROSPERO
low complexity region 397 411 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 453 474 N/A INTRINSIC
low complexity region 624 643 N/A INTRINSIC
low complexity region 699 716 N/A INTRINSIC
low complexity region 845 875 N/A INTRINSIC
internal_repeat_4 886 904 2.67e-5 PROSPERO
internal_repeat_7 893 906 5.96e-5 PROSPERO
internal_repeat_2 893 910 1.08e-6 PROSPERO
internal_repeat_4 897 914 2.67e-5 PROSPERO
internal_repeat_1 912 937 1.97e-8 PROSPERO
internal_repeat_7 1028 1041 5.96e-5 PROSPERO
low complexity region 1107 1124 N/A INTRINSIC
internal_repeat_5 1138 1164 2.67e-5 PROSPERO
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1253 1269 N/A INTRINSIC
low complexity region 1270 1289 N/A INTRINSIC
low complexity region 1297 1309 N/A INTRINSIC
internal_repeat_6 1533 1556 2.67e-5 PROSPERO
low complexity region 1559 1576 N/A INTRINSIC
coiled coil region 1580 1707 N/A INTRINSIC
coiled coil region 1728 1832 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102491
AA Change: A351T

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: A351T

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 77 93 N/A INTRINSIC
Pfam:Rootletin 158 336 9.7e-65 PFAM
low complexity region 354 381 N/A INTRINSIC
internal_repeat_2 462 479 1.77e-6 PROSPERO
low complexity region 493 514 N/A INTRINSIC
internal_repeat_3 527 557 8.63e-6 PROSPERO
internal_repeat_6 533 556 4.21e-5 PROSPERO
low complexity region 561 575 N/A INTRINSIC
low complexity region 576 594 N/A INTRINSIC
low complexity region 617 638 N/A INTRINSIC
low complexity region 788 807 N/A INTRINSIC
low complexity region 863 880 N/A INTRINSIC
low complexity region 1009 1039 N/A INTRINSIC
internal_repeat_4 1050 1068 4.21e-5 PROSPERO
internal_repeat_7 1057 1070 9.31e-5 PROSPERO
internal_repeat_2 1057 1074 1.77e-6 PROSPERO
internal_repeat_4 1061 1078 4.21e-5 PROSPERO
internal_repeat_1 1076 1101 3.36e-8 PROSPERO
internal_repeat_7 1192 1205 9.31e-5 PROSPERO
low complexity region 1271 1288 N/A INTRINSIC
internal_repeat_5 1302 1328 4.21e-5 PROSPERO
low complexity region 1354 1365 N/A INTRINSIC
low complexity region 1417 1433 N/A INTRINSIC
low complexity region 1434 1453 N/A INTRINSIC
low complexity region 1461 1473 N/A INTRINSIC
internal_repeat_6 1697 1720 4.21e-5 PROSPERO
low complexity region 1723 1740 N/A INTRINSIC
coiled coil region 1744 1871 N/A INTRINSIC
coiled coil region 1892 1996 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144196
SMART Domains Protein: ENSMUSP00000120555
Gene: ENSMUSG00000040860

DomainStartEndE-ValueType
coiled coil region 1 42 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168157
AA Change: A187T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: A187T

DomainStartEndE-ValueType
Pfam:Rootletin 1 173 6.1e-48 PFAM
low complexity region 190 217 N/A INTRINSIC
internal_repeat_2 298 315 1.08e-6 PROSPERO
low complexity region 329 350 N/A INTRINSIC
internal_repeat_3 363 393 5.38e-6 PROSPERO
internal_repeat_6 369 392 2.67e-5 PROSPERO
low complexity region 397 411 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 453 474 N/A INTRINSIC
low complexity region 624 643 N/A INTRINSIC
low complexity region 699 716 N/A INTRINSIC
low complexity region 845 875 N/A INTRINSIC
internal_repeat_4 886 904 2.67e-5 PROSPERO
internal_repeat_7 893 906 5.96e-5 PROSPERO
internal_repeat_2 893 910 1.08e-6 PROSPERO
internal_repeat_4 897 914 2.67e-5 PROSPERO
internal_repeat_1 912 937 1.97e-8 PROSPERO
internal_repeat_7 1028 1041 5.96e-5 PROSPERO
low complexity region 1107 1124 N/A INTRINSIC
internal_repeat_5 1138 1164 2.67e-5 PROSPERO
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1253 1269 N/A INTRINSIC
low complexity region 1270 1289 N/A INTRINSIC
low complexity region 1297 1309 N/A INTRINSIC
internal_repeat_6 1533 1556 2.67e-5 PROSPERO
low complexity region 1559 1576 N/A INTRINSIC
coiled coil region 1580 1707 N/A INTRINSIC
coiled coil region 1728 1832 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia. However, photoreceptors degenerate over time, and lungs appear prone to pathological changes. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Gene trapped(3)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Acsl5 G T 19: 55,279,642 (GRCm39) W460L probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cc2d1b T C 4: 108,488,873 (GRCm39) F770L probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Copb1 A T 7: 113,818,837 (GRCm39) M827K probably damaging Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Itgb2l A C 16: 96,227,996 (GRCm39) Y502* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pld1 C A 3: 28,141,435 (GRCm39) T666K probably damaging Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Ulk4 T G 9: 121,084,190 (GRCm39) N427T probably damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Other mutations in Crocc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Crocc APN 4 140,749,423 (GRCm39) missense probably damaging 1.00
IGL01474:Crocc APN 4 140,762,703 (GRCm39) splice site probably benign
IGL01859:Crocc APN 4 140,756,601 (GRCm39) missense probably benign 0.07
IGL02161:Crocc APN 4 140,761,302 (GRCm39) missense probably benign 0.01
IGL02244:Crocc APN 4 140,765,231 (GRCm39) missense probably benign 0.00
IGL02970:Crocc APN 4 140,757,557 (GRCm39) missense possibly damaging 0.49
N/A:Crocc UTSW 4 140,749,057 (GRCm39) missense probably damaging 1.00
R0158:Crocc UTSW 4 140,769,553 (GRCm39) splice site probably benign
R0280:Crocc UTSW 4 140,755,737 (GRCm39) missense probably damaging 1.00
R0448:Crocc UTSW 4 140,769,502 (GRCm39) missense probably damaging 1.00
R0532:Crocc UTSW 4 140,757,558 (GRCm39) missense possibly damaging 0.95
R0597:Crocc UTSW 4 140,744,382 (GRCm39) missense probably benign
R0597:Crocc UTSW 4 140,747,224 (GRCm39) missense probably benign 0.06
R0761:Crocc UTSW 4 140,774,387 (GRCm39) missense probably benign 0.01
R0761:Crocc UTSW 4 140,757,087 (GRCm39) missense probably benign 0.00
R1238:Crocc UTSW 4 140,762,675 (GRCm39) missense probably benign 0.00
R1460:Crocc UTSW 4 140,756,551 (GRCm39) nonsense probably null
R1515:Crocc UTSW 4 140,747,048 (GRCm39) missense probably benign 0.00
R1557:Crocc UTSW 4 140,752,776 (GRCm39) missense probably damaging 0.96
R1561:Crocc UTSW 4 140,757,579 (GRCm39) missense probably damaging 1.00
R1641:Crocc UTSW 4 140,744,388 (GRCm39) missense probably benign 0.00
R1709:Crocc UTSW 4 140,753,410 (GRCm39) critical splice donor site probably null
R1785:Crocc UTSW 4 140,749,113 (GRCm39) missense probably damaging 0.99
R1786:Crocc UTSW 4 140,749,113 (GRCm39) missense probably damaging 0.99
R1793:Crocc UTSW 4 140,746,620 (GRCm39) missense probably damaging 1.00
R1897:Crocc UTSW 4 140,746,047 (GRCm39) missense probably damaging 1.00
R1935:Crocc UTSW 4 140,761,369 (GRCm39) missense possibly damaging 0.78
R2037:Crocc UTSW 4 140,774,253 (GRCm39) critical splice donor site probably null
R2127:Crocc UTSW 4 140,744,407 (GRCm39) missense probably damaging 1.00
R2129:Crocc UTSW 4 140,744,407 (GRCm39) missense probably damaging 1.00
R2130:Crocc UTSW 4 140,756,413 (GRCm39) missense probably benign 0.04
R2136:Crocc UTSW 4 140,760,265 (GRCm39) missense probably damaging 1.00
R2298:Crocc UTSW 4 140,752,770 (GRCm39) missense probably benign 0.30
R2847:Crocc UTSW 4 140,746,067 (GRCm39) missense probably damaging 0.97
R2848:Crocc UTSW 4 140,746,067 (GRCm39) missense probably damaging 0.97
R2913:Crocc UTSW 4 140,747,661 (GRCm39) missense probably damaging 1.00
R3415:Crocc UTSW 4 140,773,758 (GRCm39) missense possibly damaging 0.75
R3416:Crocc UTSW 4 140,773,758 (GRCm39) missense possibly damaging 0.75
R3417:Crocc UTSW 4 140,773,758 (GRCm39) missense possibly damaging 0.75
R4082:Crocc UTSW 4 140,761,282 (GRCm39) splice site probably null
R4454:Crocc UTSW 4 140,747,716 (GRCm39) missense possibly damaging 0.52
R4591:Crocc UTSW 4 140,745,983 (GRCm39) missense probably damaging 1.00
R4597:Crocc UTSW 4 140,747,088 (GRCm39) missense probably damaging 1.00
R4984:Crocc UTSW 4 140,761,763 (GRCm39) missense probably damaging 1.00
R4992:Crocc UTSW 4 140,773,977 (GRCm39) missense probably damaging 0.98
R5109:Crocc UTSW 4 140,755,722 (GRCm39) missense probably damaging 1.00
R5143:Crocc UTSW 4 140,768,350 (GRCm39) missense probably benign 0.01
R5381:Crocc UTSW 4 140,756,622 (GRCm39) missense possibly damaging 0.95
R5684:Crocc UTSW 4 140,778,455 (GRCm39) missense probably damaging 0.99
R5757:Crocc UTSW 4 140,770,875 (GRCm39) missense probably damaging 1.00
R5795:Crocc UTSW 4 140,769,118 (GRCm39) frame shift probably null
R5796:Crocc UTSW 4 140,769,118 (GRCm39) frame shift probably null
R5798:Crocc UTSW 4 140,769,118 (GRCm39) frame shift probably null
R5815:Crocc UTSW 4 140,762,507 (GRCm39) missense probably damaging 0.99
R5955:Crocc UTSW 4 140,745,229 (GRCm39) missense possibly damaging 0.75
R6031:Crocc UTSW 4 140,761,668 (GRCm39) critical splice donor site probably null
R6063:Crocc UTSW 4 140,773,851 (GRCm39) missense probably damaging 1.00
R6063:Crocc UTSW 4 140,769,032 (GRCm39) missense probably benign 0.08
R7086:Crocc UTSW 4 140,774,368 (GRCm39) missense possibly damaging 0.47
R7282:Crocc UTSW 4 140,749,652 (GRCm39) missense probably damaging 1.00
R7404:Crocc UTSW 4 140,753,497 (GRCm39) missense possibly damaging 0.46
R7571:Crocc UTSW 4 140,773,360 (GRCm39) critical splice acceptor site probably null
R7646:Crocc UTSW 4 140,748,966 (GRCm39) missense probably null 0.94
R7782:Crocc UTSW 4 140,752,597 (GRCm39) missense probably benign 0.05
R8053:Crocc UTSW 4 140,770,230 (GRCm39) critical splice donor site probably null
R8762:Crocc UTSW 4 140,761,369 (GRCm39) missense possibly damaging 0.78
R9021:Crocc UTSW 4 140,749,674 (GRCm39) missense probably benign 0.00
R9188:Crocc UTSW 4 140,747,151 (GRCm39) missense probably benign 0.04
R9272:Crocc UTSW 4 140,747,132 (GRCm39) missense probably benign 0.00
R9411:Crocc UTSW 4 140,749,577 (GRCm39) critical splice donor site probably null
R9647:Crocc UTSW 4 140,774,335 (GRCm39) missense probably benign 0.00
R9667:Crocc UTSW 4 140,748,988 (GRCm39) missense probably damaging 1.00
R9706:Crocc UTSW 4 140,746,046 (GRCm39) missense possibly damaging 0.76
R9780:Crocc UTSW 4 140,756,556 (GRCm39) missense probably benign 0.01
X0065:Crocc UTSW 4 140,769,103 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- TCTACAGGGGACTTAGCTGTGG -3'
(R):5'- GTAGCTTCACTCACATTGGACTTTG -3'

Sequencing Primer
(F):5'- ACTTAGCTGTGGACGGGC -3'
(R):5'- CCCTGCTCTGATAGTGAGTGTC -3'
Posted On 2019-06-26