Incidental Mutation 'R0597:Crocc'
ID 55108
Institutional Source Beutler Lab
Gene Symbol Crocc
Ensembl Gene ENSMUSG00000040860
Gene Name ciliary rootlet coiled-coil, rootletin
Synonyms
MMRRC Submission 038786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0597 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 140743948-140787861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140747224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1528 (K1528R)
Ref Sequence ENSEMBL: ENSMUSP00000126543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000071977] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000168157] [ENSMUST00000166376]
AlphaFold Q8CJ40
Predicted Effect probably benign
Transcript: ENSMUST00000040222
AA Change: K1528R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: K1528R

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: ENSMUST00000071977
SMART Domains Protein: ENSMUSP00000071868
Gene: ENSMUSG00000060572

DomainStartEndE-ValueType
Pfam:MAGP 3 153 1.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097816
AA Change: K1528R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: K1528R

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: K1692R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: K1692R

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 noncoding transcript
Transcript: ENSMUST00000122846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124506
Predicted Effect probably benign
Transcript: ENSMUST00000168157
AA Change: K1528R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: K1528R

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 noncoding transcript
Transcript: ENSMUST00000137721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126973
Predicted Effect probably benign
Transcript: ENSMUST00000166376
SMART Domains Protein: ENSMUSP00000132711
Gene: ENSMUSG00000060572

DomainStartEndE-ValueType
Pfam:MAGP 2 153 2e-46 PFAM
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 97% (71/73)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,352,631 (GRCm39) probably null Het
Anxa11 T C 14: 25,874,652 (GRCm39) I221T probably damaging Het
Arhgap33 C G 7: 30,225,871 (GRCm39) R565P probably damaging Het
Bmpr2 T C 1: 59,880,584 (GRCm39) probably benign Het
Btn2a2 T A 13: 23,670,580 (GRCm39) H51L probably benign Het
Casz1 T C 4: 149,028,851 (GRCm39) S1099P probably benign Het
Cnot4 A G 6: 35,028,438 (GRCm39) S393P possibly damaging Het
Cntnap5a T C 1: 116,112,191 (GRCm39) probably benign Het
Cobl T C 11: 12,204,699 (GRCm39) T586A probably benign Het
Dact2 A G 17: 14,417,303 (GRCm39) V299A probably benign Het
Dapk1 C A 13: 60,909,198 (GRCm39) N1270K probably benign Het
Ddx41 T C 13: 55,680,819 (GRCm39) Y375C probably damaging Het
Dock5 T A 14: 68,022,383 (GRCm39) probably null Het
Dyrk4 T G 6: 126,863,612 (GRCm39) probably null Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam210b A G 2: 172,187,773 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,819,712 (GRCm39) I229T probably benign Het
Fbxo39 A G 11: 72,207,747 (GRCm39) D33G probably damaging Het
Fbxw11 A G 11: 32,670,496 (GRCm39) E120G probably damaging Het
Fbxw2 A T 2: 34,701,032 (GRCm39) L261Q probably damaging Het
Gm5800 A C 14: 51,953,461 (GRCm39) N51K probably benign Het
Gm6899 A G 11: 26,543,768 (GRCm39) probably benign Het
Gpx8 T C 13: 113,182,035 (GRCm39) T133A possibly damaging Het
Grin3a C T 4: 49,665,351 (GRCm39) V1095M probably damaging Het
Grip2 T C 6: 91,773,178 (GRCm39) probably benign Het
Hacd4 A G 4: 88,355,757 (GRCm39) F43L probably damaging Het
Hif1a T G 12: 73,989,049 (GRCm39) S645R probably benign Het
Hipk3 A G 2: 104,263,982 (GRCm39) S839P possibly damaging Het
Idi2l C A 13: 8,990,802 (GRCm39) probably benign Het
Il16 A T 7: 83,327,183 (GRCm39) probably benign Het
Il3ra T A 14: 14,351,166 (GRCm38) probably null Het
Il5ra A G 6: 106,721,296 (GRCm39) M1T probably null Het
Klra2 G A 6: 131,197,148 (GRCm39) R251C probably benign Het
Lamc2 C T 1: 153,009,367 (GRCm39) V813M probably benign Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Map3k6 C T 4: 132,972,863 (GRCm39) P341S possibly damaging Het
Mcts2 A G 2: 152,529,609 (GRCm39) E140G probably benign Het
Med1 T C 11: 98,060,264 (GRCm39) M222V probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Muc19 A T 15: 91,784,696 (GRCm39) noncoding transcript Het
Nr1h2 A G 7: 44,201,684 (GRCm39) probably benign Het
Or13j1 A T 4: 43,706,592 (GRCm39) probably null Het
Or2w6 C A 13: 21,843,316 (GRCm39) R59L probably damaging Het
Or56a42-ps1 A G 7: 104,777,425 (GRCm39) V73A possibly damaging Het
Or5ac23 A T 16: 59,149,123 (GRCm39) F250I probably damaging Het
P4hb G A 11: 120,459,070 (GRCm39) T141I possibly damaging Het
Polr3a A G 14: 24,534,202 (GRCm39) V101A probably benign Het
Pou4f2 A G 8: 79,161,869 (GRCm39) S245P probably benign Het
Pramel26 G T 4: 143,539,222 (GRCm39) N90K probably damaging Het
Rnpep A G 1: 135,200,157 (GRCm39) V266A probably damaging Het
Scly G A 1: 91,237,555 (GRCm39) G206R probably damaging Het
Sec14l3 A T 11: 4,024,814 (GRCm39) K254N probably damaging Het
Sgpp1 A T 12: 75,781,874 (GRCm39) I155N probably damaging Het
Slc22a14 A G 9: 119,001,190 (GRCm39) L468P probably damaging Het
Slc22a27 A G 19: 7,843,249 (GRCm39) F377L probably benign Het
Slc44a3 T C 3: 121,253,719 (GRCm39) I625V probably benign Het
Slc47a2 A T 11: 61,200,802 (GRCm39) I373N probably damaging Het
Slfn10-ps A T 11: 82,926,479 (GRCm39) noncoding transcript Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Sort1 A G 3: 108,246,226 (GRCm39) D401G probably damaging Het
Sprr2a3 G T 3: 92,195,897 (GRCm39) M1I probably null Het
Sycp2 A C 2: 177,998,373 (GRCm39) V1049G possibly damaging Het
Tecrl T A 5: 83,502,775 (GRCm39) K10* probably null Het
Tnpo3 A T 6: 29,578,564 (GRCm39) C303* probably null Het
Vmn2r23 A G 6: 123,706,680 (GRCm39) I503M probably benign Het
Zbtb8os T A 4: 129,240,670 (GRCm39) I164N probably damaging Het
Zfp292 T C 4: 34,807,399 (GRCm39) N1882D probably benign Het
Zfp91 T C 19: 12,747,459 (GRCm39) I555V possibly damaging 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
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
R7293:Crocc UTSW 4 140,770,867 (GRCm39) missense probably benign 0.17
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'- CGGTCATGTTCACAGGTACTCAAGG -3'
(R):5'- CCGAGGCAGACAGGTAAAGTTTCAG -3'

Sequencing Primer
(F):5'- GCCTTCTGTAGGTGCAGATTC -3'
(R):5'- TTCTGGACAGGGTGATCAACC -3'
Posted On 2013-07-11