Incidental Mutation 'R5446:Crb2'
ID 429057
Institutional Source Beutler Lab
Gene Symbol Crb2
Ensembl Gene ENSMUSG00000035403
Gene Name crumbs family member 2
Synonyms
MMRRC Submission 043011-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5446 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37666261-37689115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37685461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1191 (I1191T)
Ref Sequence ENSEMBL: ENSMUSP00000058007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050372] [ENSMUST00000102787]
AlphaFold Q80YA8
Predicted Effect probably benign
Transcript: ENSMUST00000050372
AA Change: I1191T

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: I1191T

DomainStartEndE-ValueType
EGF 74 110 1.92e-7 SMART
EGF_CA 112 148 1.69e-12 SMART
EGF_CA 150 186 3.99e-14 SMART
EGF_CA 188 225 8.9e-12 SMART
EGF_CA 227 263 3.79e-6 SMART
EGF 268 322 1.32e-5 SMART
EGF_CA 324 360 5.96e-13 SMART
EGF_CA 362 398 2.54e-7 SMART
EGF 403 440 2.45e0 SMART
low complexity region 446 457 N/A INTRINSIC
LamG 461 592 1.18e-6 SMART
EGF 612 645 4.59e-5 SMART
LamG 671 778 4.45e-2 SMART
EGF 813 846 5.2e-4 SMART
LamG 893 1019 1.68e-1 SMART
EGF 1056 1089 9.55e-3 SMART
EGF 1094 1127 9.85e-5 SMART
EGF 1134 1168 1.91e1 SMART
EGF 1173 1206 3.73e-5 SMART
transmembrane domain 1222 1244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102787
SMART Domains Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
uDENN 9 91 1.44e-26 SMART
DENN 92 273 2.09e-73 SMART
dDENN 304 371 1.37e-18 SMART
low complexity region 497 508 N/A INTRINSIC
low complexity region 689 702 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
low complexity region 801 815 N/A INTRINSIC
low complexity region 822 856 N/A INTRINSIC
low complexity region 952 972 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137693
Predicted Effect probably benign
Transcript: ENSMUST00000147600
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous inactivation of this gene causes severe gastrulation defects, impaired somitogenesis and organogenesis. and complete embryonic death by E12.5. Several organ primordia, including neuroepithelium, gut, and heart, fail to form properly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar A G 3: 89,647,486 (GRCm39) N155S probably damaging Het
Ak9 A G 10: 41,296,505 (GRCm39) D1417G possibly damaging Het
Ankrd52 G T 10: 128,224,430 (GRCm39) C736F probably damaging Het
Arhgap15 T A 2: 43,718,772 (GRCm39) H85Q probably benign Het
Bcat2 G A 7: 45,234,569 (GRCm39) R110H possibly damaging Het
Bscl2 A G 19: 8,823,564 (GRCm39) H4R possibly damaging Het
Cdh2 T C 18: 16,779,684 (GRCm39) I126V probably damaging Het
Cnbd2 A C 2: 156,209,581 (GRCm39) E508A possibly damaging Het
Dync2h1 T C 9: 7,144,217 (GRCm39) T1075A probably benign Het
Edil3 A C 13: 89,332,957 (GRCm39) H371P possibly damaging Het
Gm5134 T C 10: 75,831,670 (GRCm39) S370P probably damaging Het
Helz T C 11: 107,523,030 (GRCm39) V737A probably damaging Het
Jade2 A G 11: 51,707,786 (GRCm39) V809A probably benign Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Krt75 T C 15: 101,479,502 (GRCm39) D276G probably null Het
Lipm C T 19: 34,095,287 (GRCm39) A294V possibly damaging Het
Med13l A G 5: 118,880,462 (GRCm39) N1185D possibly damaging Het
Mmp27 T A 9: 7,573,516 (GRCm39) probably benign Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Muc21 T A 17: 35,933,395 (GRCm39) probably benign Het
Npnt A G 3: 132,614,130 (GRCm39) L191P probably damaging Het
Or4c10b A T 2: 89,711,893 (GRCm39) H241L probably damaging Het
Paip2b T C 6: 83,791,844 (GRCm39) I13V probably benign Het
Pcdhac2 T A 18: 37,278,253 (GRCm39) L411Q probably damaging Het
Plekhd1 A G 12: 80,767,410 (GRCm39) N266S probably benign Het
Pnpla8 A G 12: 44,337,368 (GRCm39) T454A possibly damaging Het
Prkcg A T 7: 3,378,780 (GRCm39) Y675F probably benign Het
Pwwp2b T A 7: 138,835,066 (GRCm39) I169N probably damaging Het
Rreb1 G A 13: 38,082,473 (GRCm39) R86H possibly damaging Het
Smok3c A C 5: 138,062,895 (GRCm39) L127F probably damaging Het
St6galnac1 T A 11: 116,657,095 (GRCm39) M427L probably benign Het
Synm T C 7: 67,385,722 (GRCm39) T205A probably benign Het
Tsbp1 T C 17: 34,659,867 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn2r112 A G 17: 22,837,231 (GRCm39) Y564C probably damaging Het
Vmn2r90 A C 17: 17,932,464 (GRCm39) T124P probably damaging Het
Vpreb1a A T 16: 16,686,554 (GRCm39) V112E probably damaging Het
Zfp451 A G 1: 33,816,609 (GRCm39) L447S probably damaging Het
Zfp746 T C 6: 48,041,107 (GRCm39) T539A probably damaging Het
Other mutations in Crb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Crb2 APN 2 37,682,076 (GRCm39) missense probably damaging 1.00
IGL01357:Crb2 APN 2 37,685,523 (GRCm39) unclassified probably benign
IGL01363:Crb2 APN 2 37,683,845 (GRCm39) missense probably benign 0.01
IGL02006:Crb2 APN 2 37,676,475 (GRCm39) missense probably damaging 1.00
IGL02380:Crb2 APN 2 37,673,447 (GRCm39) missense probably damaging 0.96
IGL02455:Crb2 APN 2 37,684,576 (GRCm39) missense possibly damaging 0.74
IGL03107:Crb2 APN 2 37,681,428 (GRCm39) missense probably benign 0.10
R1350:Crb2 UTSW 2 37,682,081 (GRCm39) missense probably damaging 1.00
R1353:Crb2 UTSW 2 37,677,293 (GRCm39) missense probably damaging 1.00
R1466:Crb2 UTSW 2 37,673,400 (GRCm39) missense probably damaging 1.00
R1466:Crb2 UTSW 2 37,673,400 (GRCm39) missense probably damaging 1.00
R1509:Crb2 UTSW 2 37,676,631 (GRCm39) missense probably benign 0.01
R1734:Crb2 UTSW 2 37,683,668 (GRCm39) missense probably damaging 1.00
R2006:Crb2 UTSW 2 37,673,446 (GRCm39) missense probably damaging 0.99
R2918:Crb2 UTSW 2 37,673,395 (GRCm39) missense probably benign 0.01
R3431:Crb2 UTSW 2 37,682,229 (GRCm39) missense probably benign 0.24
R3975:Crb2 UTSW 2 37,683,680 (GRCm39) missense possibly damaging 0.74
R4074:Crb2 UTSW 2 37,676,855 (GRCm39) missense probably damaging 1.00
R4518:Crb2 UTSW 2 37,680,401 (GRCm39) missense probably damaging 1.00
R4521:Crb2 UTSW 2 37,685,349 (GRCm39) unclassified probably benign
R4801:Crb2 UTSW 2 37,683,768 (GRCm39) missense probably benign 0.09
R4802:Crb2 UTSW 2 37,683,768 (GRCm39) missense probably benign 0.09
R4913:Crb2 UTSW 2 37,680,257 (GRCm39) missense probably benign
R4930:Crb2 UTSW 2 37,673,326 (GRCm39) missense probably damaging 1.00
R4947:Crb2 UTSW 2 37,685,343 (GRCm39) unclassified probably benign
R4959:Crb2 UTSW 2 37,680,482 (GRCm39) missense probably damaging 0.99
R5215:Crb2 UTSW 2 37,683,765 (GRCm39) missense probably benign 0.23
R5268:Crb2 UTSW 2 37,680,833 (GRCm39) missense probably damaging 1.00
R5739:Crb2 UTSW 2 37,683,666 (GRCm39) missense probably damaging 0.99
R5875:Crb2 UTSW 2 37,677,266 (GRCm39) splice site probably null
R6179:Crb2 UTSW 2 37,680,269 (GRCm39) missense probably damaging 1.00
R6450:Crb2 UTSW 2 37,683,838 (GRCm39) missense possibly damaging 0.91
R6569:Crb2 UTSW 2 37,682,163 (GRCm39) missense probably damaging 0.99
R6828:Crb2 UTSW 2 37,666,421 (GRCm39) small deletion probably benign
R7040:Crb2 UTSW 2 37,677,696 (GRCm39) missense probably benign 0.32
R7153:Crb2 UTSW 2 37,677,420 (GRCm39) missense probably benign 0.00
R7362:Crb2 UTSW 2 37,680,211 (GRCm39) missense probably benign 0.00
R7515:Crb2 UTSW 2 37,673,412 (GRCm39) missense probably damaging 1.00
R7519:Crb2 UTSW 2 37,683,332 (GRCm39) missense probably damaging 1.00
R7583:Crb2 UTSW 2 37,680,607 (GRCm39) missense probably benign 0.00
R7819:Crb2 UTSW 2 37,681,603 (GRCm39) missense probably benign 0.00
R8016:Crb2 UTSW 2 37,676,568 (GRCm39) missense possibly damaging 0.50
R8049:Crb2 UTSW 2 37,683,252 (GRCm39) missense probably benign 0.02
R8090:Crb2 UTSW 2 37,685,503 (GRCm39) missense probably damaging 1.00
R8907:Crb2 UTSW 2 37,685,395 (GRCm39) missense probably benign 0.00
R9010:Crb2 UTSW 2 37,680,698 (GRCm39) missense probably benign 0.01
R9291:Crb2 UTSW 2 37,682,213 (GRCm39) missense probably damaging 0.99
R9448:Crb2 UTSW 2 37,677,773 (GRCm39) missense probably benign 0.01
R9706:Crb2 UTSW 2 37,681,215 (GRCm39) missense probably damaging 0.98
R9714:Crb2 UTSW 2 37,681,215 (GRCm39) missense probably damaging 0.98
X0025:Crb2 UTSW 2 37,682,221 (GRCm39) missense probably damaging 1.00
Z1176:Crb2 UTSW 2 37,666,383 (GRCm39) missense probably benign
Z1177:Crb2 UTSW 2 37,680,836 (GRCm39) missense possibly damaging 0.71
Z1177:Crb2 UTSW 2 37,677,377 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGGTCTGGATAAACCTTG -3'
(R):5'- GGTGAAAATAACCCCTACATTGG -3'

Sequencing Primer
(F):5'- CTGGATAAACCTTGATGCTGGAG -3'
(R):5'- GAAAGGGCCTAAGTATTCTCTCC -3'
Posted On 2016-09-06