Incidental Mutation 'R1350:Crb2'
ID 159509
Institutional Source Beutler Lab
Gene Symbol Crb2
Ensembl Gene ENSMUSG00000035403
Gene Name crumbs family member 2
Synonyms
MMRRC Submission 039415-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1350 (G1)
Quality Score 208
Status Validated
Chromosome 2
Chromosomal Location 37666261-37689115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37682081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 821 (N821D)
Ref Sequence ENSEMBL: ENSMUSP00000058007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050372]
AlphaFold Q80YA8
Predicted Effect probably damaging
Transcript: ENSMUST00000050372
AA Change: N821D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: N821D

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 noncoding transcript
Transcript: ENSMUST00000137693
Predicted Effect unknown
Transcript: ENSMUST00000147600
AA Change: N146D
Meta Mutation Damage Score 0.9269 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.1%
Validation Efficiency 95% (57/60)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 A G 4: 126,400,925 (GRCm39) V640A probably benign Het
AI661453 C T 17: 47,778,853 (GRCm39) Q860* probably null Het
Atp10d A G 5: 72,418,469 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,205,950 (GRCm39) probably null Het
Bivm T A 1: 44,165,863 (GRCm39) N104K possibly damaging Het
Capn15 A G 17: 26,183,666 (GRCm39) S338P probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccn6 C T 10: 39,034,302 (GRCm39) C100Y probably damaging Het
Col13a1 G A 10: 61,729,848 (GRCm39) probably benign Het
D5Ertd579e T A 5: 36,771,081 (GRCm39) I1105F probably damaging Het
Dnaja2 A T 8: 86,266,717 (GRCm39) F337I probably damaging Het
Dntt C T 19: 41,025,578 (GRCm39) probably benign Het
Dock3 C T 9: 106,791,831 (GRCm39) E1381K possibly damaging Het
Fibp T C 19: 5,511,419 (GRCm39) Y96H probably damaging Het
Garnl3 A G 2: 32,942,226 (GRCm39) V85A probably damaging Het
Gsdme A T 6: 50,223,108 (GRCm39) probably null Het
Gucy2c A T 6: 136,720,912 (GRCm39) probably null Het
Hectd1 A G 12: 51,809,217 (GRCm39) V1748A probably benign Het
Hepacam2 G A 6: 3,467,530 (GRCm39) Q384* probably null Het
Itga10 T A 3: 96,564,793 (GRCm39) M961K probably benign Het
Kcnk1 C T 8: 126,751,967 (GRCm39) T191I probably benign Het
Khdrbs1 G A 4: 129,614,545 (GRCm39) P336L probably benign Het
Klhdc2 T A 12: 69,352,484 (GRCm39) probably null Het
Lipc T C 9: 70,705,649 (GRCm39) H478R probably benign Het
Lrp12 A T 15: 39,741,646 (GRCm39) C356* probably null Het
Nf1 T A 11: 79,303,513 (GRCm39) C397S probably damaging Het
Nox3 A G 17: 3,700,396 (GRCm39) F439S probably damaging Het
Or12e9 T A 2: 87,202,701 (GRCm39) V275E probably benign Het
Or13a18 T C 7: 140,190,622 (GRCm39) V181A probably damaging Het
Or3a1b T C 11: 74,013,039 (GRCm39) L308P possibly damaging Het
Or4b12 A T 2: 90,096,690 (GRCm39) L28Q probably damaging Het
Or51b17 A G 7: 103,542,937 (GRCm39) W2R probably benign Het
Or7g29 T G 9: 19,286,710 (GRCm39) S156R possibly damaging Het
Or8b37 G A 9: 37,959,111 (GRCm39) V198I probably benign Het
Pcif1 T C 2: 164,728,687 (GRCm39) F288L probably damaging Het
Prxl2b C A 4: 154,982,585 (GRCm39) R107L probably damaging Het
Skint7 G T 4: 111,837,521 (GRCm39) A100S possibly damaging Het
Ssu2 A T 6: 112,351,807 (GRCm39) L306* probably null Het
Tasp1 T C 2: 139,899,341 (GRCm39) E4G probably damaging Het
Tfb1m A T 17: 3,595,955 (GRCm39) D99E probably benign Het
Ube3b A G 5: 114,544,198 (GRCm39) probably null Het
Uox A G 3: 146,330,330 (GRCm39) D162G probably damaging Het
Usp18 A G 6: 121,239,651 (GRCm39) T249A possibly damaging Het
Vmn1r202 T C 13: 22,685,886 (GRCm39) N177S probably benign Het
Vwa2 T A 19: 56,897,558 (GRCm39) M621K probably damaging Het
Wdfy3 C A 5: 102,046,418 (GRCm39) D1797Y probably damaging Het
Ylpm1 A T 12: 85,060,856 (GRCm39) probably benign Het
Zbtb9 G A 17: 27,193,380 (GRCm39) V262I probably benign 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
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
R5446:Crb2 UTSW 2 37,685,461 (GRCm39) missense probably benign 0.16
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'- TCAGTCTCAGATGGCATCCTGACC -3'
(R):5'- CCCTTGAAGTTGCCTTAGAAACCCC -3'

Sequencing Primer
(F):5'- CCTCTttagtggctgggc -3'
(R):5'- TAACCCACCATATTGGGGCTG -3'
Posted On 2014-03-14