Incidental Mutation 'R2136:Crocc'
ID 235795
Institutional Source Beutler Lab
Gene Symbol Crocc
Ensembl Gene ENSMUSG00000040860
Gene Name ciliary rootlet coiled-coil, rootletin
Synonyms
MMRRC Submission 040139-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R2136 (G1)
Quality Score 180
Status Not validated
Chromosome 4
Chromosomal Location 140743948-140787861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140760265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 789 (R789W)
Ref Sequence ENSEMBL: ENSMUSP00000126543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000168157]
AlphaFold Q8CJ40
Predicted Effect probably damaging
Transcript: ENSMUST00000040222
AA Change: R789W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: R789W

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: R789W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: R789W

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: ENSMUST00000102491
AA Change: R953W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: R953W

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: ENSMUST00000151455
Predicted Effect probably damaging
Transcript: ENSMUST00000168157
AA Change: R789W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: R789W

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T G 16: 19,702,530 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,210,658 (GRCm39) T174A probably benign Het
Abcg3 G A 5: 105,114,680 (GRCm39) S279L probably benign Het
Acap3 T C 4: 155,981,369 (GRCm39) L85P probably damaging Het
Adgrl3 A G 5: 81,660,101 (GRCm39) K290R probably damaging Het
Ankhd1 A G 18: 36,780,674 (GRCm39) T1909A probably benign Het
Asap1 T C 15: 63,982,808 (GRCm39) D832G probably damaging Het
Atp6v0a2 T A 5: 124,795,552 (GRCm39) L702Q possibly damaging Het
Bsn A G 9: 107,990,430 (GRCm39) V1774A probably damaging Het
Cd209e T C 8: 3,903,248 (GRCm39) E48G probably benign Het
Cdadc1 T C 14: 59,805,493 (GRCm39) probably null Het
Cfap65 C CA 1: 74,956,432 (GRCm39) probably null Het
Cln3 A C 7: 126,181,971 (GRCm39) S30R probably benign Het
Cluap1 C T 16: 3,751,636 (GRCm39) R332W probably damaging Het
Crb1 A T 1: 139,265,163 (GRCm39) V85E probably benign Het
Cwh43 A G 5: 73,572,397 (GRCm39) I212V probably benign Het
Cyp2t4 C A 7: 26,857,585 (GRCm39) F391L probably benign Het
Dhx35 G T 2: 158,673,781 (GRCm39) R404L probably damaging Het
Disp1 A G 1: 182,869,942 (GRCm39) L826S probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm39) E2061D probably damaging Het
Ep300 T A 15: 81,524,648 (GRCm39) Y1393N unknown Het
Fap C T 2: 62,354,551 (GRCm39) G446D possibly damaging Het
Fat3 A G 9: 16,288,347 (GRCm39) I392T probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glipr1l1 T C 10: 111,896,381 (GRCm39) V56A probably damaging Het
Grsf1 A G 5: 88,820,517 (GRCm39) V7A probably benign Het
Hmcn1 G A 1: 150,509,410 (GRCm39) A3646V probably damaging Het
Ipo9 A T 1: 135,322,023 (GRCm39) I569N probably damaging Het
Irs1 G T 1: 82,267,763 (GRCm39) P151Q probably damaging Het
Kalrn T C 16: 34,128,094 (GRCm39) D491G possibly damaging Het
Kctd7 T C 5: 130,181,207 (GRCm39) L210P probably damaging Het
Lifr C A 15: 7,211,338 (GRCm39) D625E possibly damaging Het
Lrguk T C 6: 34,020,454 (GRCm39) V201A probably benign Het
Mark1 A G 1: 184,651,770 (GRCm39) V135A probably damaging Het
Mical2 T A 7: 111,870,722 (GRCm39) D70E possibly damaging Het
Mrc1 T C 2: 14,275,000 (GRCm39) Y434H probably damaging Het
Myh10 C A 11: 68,695,540 (GRCm39) Q1556K probably damaging Het
Nav1 G A 1: 135,382,174 (GRCm39) T1400I probably null Het
Or1j11 A G 2: 36,311,950 (GRCm39) D180G probably damaging Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or4b13 A C 2: 90,082,597 (GRCm39) V245G probably damaging Het
Or4f4b T C 2: 111,313,961 (GRCm39) V62A probably damaging Het
Or4p7 T A 2: 88,221,663 (GRCm39) I24N probably benign Het
Or5d43 T C 2: 88,104,584 (GRCm39) K270E probably damaging Het
Or5e1 G A 7: 108,354,430 (GRCm39) M122I possibly damaging Het
Osmr T A 15: 6,881,943 (GRCm39) Q67L probably damaging Het
Pan2 T G 10: 128,149,506 (GRCm39) V522G possibly damaging Het
Pard3 T G 8: 128,103,366 (GRCm39) probably null Het
Pcdhgc5 G T 18: 37,953,166 (GRCm39) A147S possibly damaging Het
Pcsk9 T C 4: 106,303,967 (GRCm39) I506V probably benign Het
Polr3d GCCCCC GCCCC 14: 70,680,487 (GRCm39) probably null Het
Prdm4 G A 10: 85,729,215 (GRCm39) R731* probably null Het
Prdx6b T A 2: 80,123,507 (GRCm39) D105E probably damaging Het
Prss3b A G 6: 41,012,396 (GRCm39) F6S probably benign Het
Rab42 A G 4: 132,029,790 (GRCm39) L144P probably damaging Het
Ralbp1 T A 17: 66,171,661 (GRCm39) K104M probably damaging Het
Resf1 T A 6: 149,230,320 (GRCm39) I1122K probably benign Het
Rrp12 A G 19: 41,881,038 (GRCm39) V131A probably damaging Het
Sbno1 C T 5: 124,525,597 (GRCm39) probably null Het
Sbno2 A T 10: 79,898,527 (GRCm39) I645N probably damaging Het
Scfd2 T C 5: 74,367,028 (GRCm39) K624R probably benign Het
Sgk2 C A 2: 162,841,099 (GRCm39) probably null Het
Sirt4 A G 5: 115,617,760 (GRCm39) S299P probably benign Het
Skic3 T C 13: 76,321,473 (GRCm39) S1322P possibly damaging Het
Slit2 C T 5: 48,461,567 (GRCm39) A1521V probably benign Het
Socs7 T G 11: 97,263,933 (GRCm39) V275G possibly damaging Het
Spink11 G A 18: 44,323,554 (GRCm39) P102S probably benign Het
Tacc3 A G 5: 33,828,748 (GRCm39) N534D probably damaging Het
Tas2r115 T C 6: 132,714,309 (GRCm39) Y214C probably damaging Het
Tcaf1 A T 6: 42,650,454 (GRCm39) M875K probably benign Het
Ttc22 T A 4: 106,479,869 (GRCm39) L41Q possibly damaging Het
Vasn T A 16: 4,467,659 (GRCm39) C535* probably null Het
Vcan T A 13: 89,837,856 (GRCm39) I2563F probably damaging Het
Vmn2r63 T G 7: 42,576,297 (GRCm39) Q505H probably damaging Het
Vmn2r65 T G 7: 84,592,781 (GRCm39) Q475H probably damaging Het
Zbtb43 T C 2: 33,344,532 (GRCm39) Y231C probably damaging Het
Zfp292 A G 4: 34,810,266 (GRCm39) V931A 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
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'- ATGGCAGGCATCTGTTTCAC -3'
(R):5'- AGCGTGTCAGTGACAGAGAC -3'

Sequencing Primer
(F):5'- TGTTTCACAGATATGGAAACTGAGGC -3'
(R):5'- TCTGTCCCCTGTCCATGAGGAG -3'
Posted On 2014-10-01