Incidental Mutation 'R6545:Crocc2'
ID 521071
Institutional Source Beutler Lab
Gene Symbol Crocc2
Ensembl Gene ENSMUSG00000084989
Gene Name ciliary rootlet coiled-coil, rootletin family member 2
Synonyms E030010N08Rik, LOC381284
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93096447-93158794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93140659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1103 (D1103G)
Ref Sequence ENSEMBL: ENSMUSP00000120588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138595]
AlphaFold F6XLV1
Predicted Effect probably benign
Transcript: ENSMUST00000138595
AA Change: D1103G

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: D1103G

DomainStartEndE-ValueType
low complexity region 67 82 N/A INTRINSIC
Pfam:Rootletin 89 260 5.1e-24 PFAM
coiled coil region 281 346 N/A INTRINSIC
internal_repeat_1 381 424 9.68e-9 PROSPERO
internal_repeat_3 389 414 5.46e-6 PROSPERO
internal_repeat_4 398 425 1.1e-5 PROSPERO
coiled coil region 426 627 N/A INTRINSIC
coiled coil region 655 1247 N/A INTRINSIC
internal_repeat_2 1252 1280 6.61e-7 PROSPERO
internal_repeat_4 1341 1374 1.1e-5 PROSPERO
internal_repeat_1 1347 1384 9.68e-9 PROSPERO
coiled coil region 1403 1512 N/A INTRINSIC
coiled coil region 1539 1582 N/A INTRINSIC
low complexity region 1590 1604 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Crocc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Crocc2 APN 1 93,144,766 (GRCm39) nonsense probably null
Popper UTSW 1 93,111,126 (GRCm39) missense possibly damaging 0.81
R0396:Crocc2 UTSW 1 93,151,936 (GRCm39) splice site probably benign
R1382:Crocc2 UTSW 1 93,144,815 (GRCm39) critical splice donor site probably null
R4608:Crocc2 UTSW 1 93,096,516 (GRCm39) missense possibly damaging 0.95
R4609:Crocc2 UTSW 1 93,096,516 (GRCm39) missense possibly damaging 0.95
R4619:Crocc2 UTSW 1 93,141,372 (GRCm39) missense probably benign
R4646:Crocc2 UTSW 1 93,096,516 (GRCm39) missense possibly damaging 0.95
R4647:Crocc2 UTSW 1 93,096,516 (GRCm39) missense possibly damaging 0.95
R4648:Crocc2 UTSW 1 93,096,516 (GRCm39) missense possibly damaging 0.95
R4767:Crocc2 UTSW 1 93,130,578 (GRCm39) missense possibly damaging 0.72
R4811:Crocc2 UTSW 1 93,133,618 (GRCm39) missense probably damaging 0.99
R5046:Crocc2 UTSW 1 93,133,624 (GRCm39) missense probably damaging 0.96
R5389:Crocc2 UTSW 1 93,143,363 (GRCm39) missense probably benign 0.03
R5632:Crocc2 UTSW 1 93,145,575 (GRCm39) missense probably damaging 0.98
R5887:Crocc2 UTSW 1 93,121,838 (GRCm39) missense possibly damaging 0.47
R6128:Crocc2 UTSW 1 93,122,123 (GRCm39) missense probably benign 0.28
R6142:Crocc2 UTSW 1 93,118,201 (GRCm39) missense possibly damaging 0.61
R6258:Crocc2 UTSW 1 93,141,360 (GRCm39) missense possibly damaging 0.57
R6260:Crocc2 UTSW 1 93,141,360 (GRCm39) missense possibly damaging 0.57
R6288:Crocc2 UTSW 1 93,122,227 (GRCm39) missense probably benign 0.07
R6312:Crocc2 UTSW 1 93,143,432 (GRCm39) nonsense probably null
R6335:Crocc2 UTSW 1 93,130,560 (GRCm39) missense probably benign 0.02
R6339:Crocc2 UTSW 1 93,141,754 (GRCm39) missense probably benign 0.23
R6371:Crocc2 UTSW 1 93,143,353 (GRCm39) missense probably benign 0.10
R6439:Crocc2 UTSW 1 93,111,126 (GRCm39) missense possibly damaging 0.81
R6442:Crocc2 UTSW 1 93,112,775 (GRCm39) missense probably benign 0.38
R6619:Crocc2 UTSW 1 93,118,223 (GRCm39) missense probably benign 0.09
R6898:Crocc2 UTSW 1 93,143,304 (GRCm39) missense probably benign 0.06
R7170:Crocc2 UTSW 1 93,121,704 (GRCm39) missense possibly damaging 0.95
R7378:Crocc2 UTSW 1 93,121,809 (GRCm39) missense probably damaging 0.98
R7395:Crocc2 UTSW 1 93,143,829 (GRCm39) nonsense probably null
R7461:Crocc2 UTSW 1 93,122,311 (GRCm39) missense possibly damaging 0.47
R7613:Crocc2 UTSW 1 93,122,311 (GRCm39) missense possibly damaging 0.47
R7831:Crocc2 UTSW 1 93,143,195 (GRCm39) missense probably benign 0.17
R7915:Crocc2 UTSW 1 93,141,363 (GRCm39) missense probably damaging 1.00
R8085:Crocc2 UTSW 1 93,130,578 (GRCm39) missense possibly damaging 0.72
R8171:Crocc2 UTSW 1 93,116,723 (GRCm39) critical splice donor site probably null
R8193:Crocc2 UTSW 1 93,117,888 (GRCm39) splice site probably null
R8494:Crocc2 UTSW 1 93,144,788 (GRCm39) missense probably damaging 1.00
R8856:Crocc2 UTSW 1 93,120,847 (GRCm39) missense probably benign 0.41
R8918:Crocc2 UTSW 1 93,129,144 (GRCm39) missense possibly damaging 0.51
R8970:Crocc2 UTSW 1 93,116,687 (GRCm39) missense probably benign 0.02
R9458:Crocc2 UTSW 1 93,145,516 (GRCm39) missense probably damaging 0.97
R9482:Crocc2 UTSW 1 93,143,106 (GRCm39) missense probably benign 0.32
R9522:Crocc2 UTSW 1 93,117,429 (GRCm39) missense probably benign 0.02
R9597:Crocc2 UTSW 1 93,118,217 (GRCm39) missense probably benign 0.26
R9703:Crocc2 UTSW 1 93,130,444 (GRCm39) missense probably benign
Z1177:Crocc2 UTSW 1 93,154,414 (GRCm39) missense probably benign 0.04
Z1177:Crocc2 UTSW 1 93,141,317 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-06-06