Incidental Mutation 'R7831:Crocc2'
ID 605588
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 045885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R7831 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93096447-93158794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93143195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1266 (A1266S)
Ref Sequence ENSEMBL: ENSMUSP00000120588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138595]
AlphaFold F6XLV1
Predicted Effect probably benign
Transcript: ENSMUST00000138595
AA Change: A1266S

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: A1266S

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Ap2a1 C A 7: 44,550,436 (GRCm39) R944L probably damaging Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Card11 G T 5: 140,859,167 (GRCm39) S1126R possibly damaging Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Col6a3 A T 1: 90,724,268 (GRCm39) C2027* probably null Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Dnai1 T C 4: 41,614,695 (GRCm39) probably null Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Ermp1 T C 19: 29,595,367 (GRCm39) T634A probably benign Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fgf8 G A 19: 45,730,876 (GRCm39) P50S probably benign Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q 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
R6545:Crocc2 UTSW 1 93,140,659 (GRCm39) missense probably benign 0.45
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
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 PCR Primer
(F):5'- TAACCTGTCTTGGGATGATCCTC -3'
(R):5'- GCTGAGCTTCTGCATTACACC -3'

Sequencing Primer
(F):5'- GTCTTGGGATGATCCTCAGAATCATC -3'
(R):5'- GAGCTTCTGCATTACACCTAGCAC -3'
Posted On 2019-12-20