Incidental Mutation 'R4050:Scrib'
ID 314131
Institutional Source Beutler Lab
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Name scribbled planar cell polarity
Synonyms Scrb1, Crc
MMRRC Submission 040968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4050 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 75919011-75941633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75923322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1245 (R1245W)
Ref Sequence ENSEMBL: ENSMUSP00000105572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000109946] [ENSMUST00000145830] [ENSMUST00000148211] [ENSMUST00000187868]
AlphaFold Q80U72
Predicted Effect possibly damaging
Transcript: ENSMUST00000002603
AA Change: R1245W

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: R1245W

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1306 1321 N/A INTRINSIC
coiled coil region 1390 1420 N/A INTRINSIC
low complexity region 1452 1464 N/A INTRINSIC
low complexity region 1498 1515 N/A INTRINSIC
low complexity region 1549 1560 N/A INTRINSIC
low complexity region 1648 1665 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000063747
AA Change: R1245W

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: R1245W

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1282 1293 N/A INTRINSIC
coiled coil region 1362 1392 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1521 1532 N/A INTRINSIC
low complexity region 1595 1612 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109946
AA Change: R1245W

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: R1245W

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1282 1293 N/A INTRINSIC
coiled coil region 1362 1392 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1521 1532 N/A INTRINSIC
low complexity region 1620 1637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136390
SMART Domains Protein: ENSMUSP00000119097
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
PDZ 27 106 2e-23 SMART
low complexity region 127 142 N/A INTRINSIC
PDZ 161 241 1.23e-23 SMART
low complexity region 246 270 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
PDZ 303 384 6.7e-25 SMART
PDZ 400 483 3.88e-21 SMART
low complexity region 611 626 N/A INTRINSIC
coiled coil region 694 724 N/A INTRINSIC
low complexity region 757 769 N/A INTRINSIC
low complexity region 803 820 N/A INTRINSIC
low complexity region 854 865 N/A INTRINSIC
low complexity region 928 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145830
SMART Domains Protein: ENSMUSP00000115329
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148211
SMART Domains Protein: ENSMUSP00000114573
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230249
Meta Mutation Damage Score 0.1304 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele display partial prenatal lethality. Mice homozygous for spontaneous or induced alleles exhibit craniofacial or neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,029,449 (GRCm39) D473G probably damaging Het
Abca1 T A 4: 53,044,144 (GRCm39) Q1826L probably damaging Het
Apob G A 12: 8,065,390 (GRCm39) V4087I probably benign Het
Atp10b G A 11: 43,150,363 (GRCm39) A1354T probably benign Het
Baz1a A G 12: 54,976,404 (GRCm39) V424A probably benign Het
Cdc20b G A 13: 113,200,819 (GRCm39) D180N probably benign Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Ddb1 A G 19: 10,605,171 (GRCm39) D1053G probably benign Het
Ddx39a T A 8: 84,448,863 (GRCm39) M246K probably benign Het
Dip2a G A 10: 76,114,441 (GRCm39) T1013M probably damaging Het
Edar G T 10: 58,445,769 (GRCm39) T265N possibly damaging Het
Fcgbpl1 T C 7: 27,852,410 (GRCm39) V1311A possibly damaging Het
Gbp8 T A 5: 105,179,104 (GRCm39) I132F probably damaging Het
Gga1 A G 15: 78,775,691 (GRCm39) D382G probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm10518 C A 1: 179,631,378 (GRCm39) probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
H2-Eb1 T A 17: 34,533,342 (GRCm39) L188Q probably damaging Het
Heatr6 A G 11: 83,646,599 (GRCm39) S95G probably damaging Het
Hnf1a T A 5: 115,108,633 (GRCm39) N91Y probably damaging Het
Ints10 C T 8: 69,280,003 (GRCm39) S710F probably damaging Het
Kazn C T 4: 141,834,215 (GRCm39) E614K unknown Het
Kif26a T A 12: 112,146,350 (GRCm39) M1812K probably benign Het
Lmo7 A T 14: 102,139,713 (GRCm39) K488* probably null Het
Mad1l1 A G 5: 140,118,571 (GRCm39) S457P probably damaging Het
Met A G 6: 17,533,983 (GRCm39) T645A probably benign Het
Mpp4 T C 1: 59,185,903 (GRCm39) probably null Het
Mycl A T 4: 122,890,632 (GRCm39) probably null Het
Ncbp1 G A 4: 46,147,483 (GRCm39) R110H probably damaging Het
Nfasc G T 1: 132,538,043 (GRCm39) probably benign Het
Nup35 A G 2: 80,486,320 (GRCm39) I212V probably benign Het
Or2y8 T G 11: 52,035,961 (GRCm39) Y132S probably damaging Het
Or4p20 A G 2: 88,253,967 (GRCm39) M134T probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcgf5 G A 19: 36,420,311 (GRCm39) S181N probably damaging Het
Plk2 C T 13: 110,536,400 (GRCm39) T617I probably damaging Het
Polq A T 16: 36,913,182 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Pramel24 T C 4: 143,453,692 (GRCm39) S267P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Prune1 T C 3: 95,169,542 (GRCm39) K220R possibly damaging Het
Rab3gap2 G A 1: 185,004,840 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall3 G A 18: 81,014,697 (GRCm39) A1005V probably benign Het
Samd15 T G 12: 87,247,406 (GRCm39) N30K probably benign Het
Scn8a A T 15: 100,911,294 (GRCm39) K905* probably null Het
Skint4 C T 4: 111,981,811 (GRCm39) S260L probably benign Het
Slc29a2 A T 19: 5,079,481 (GRCm39) M339L possibly damaging Het
Slx9 T C 10: 77,350,164 (GRCm39) R75G possibly damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Synpo2 T C 3: 122,907,927 (GRCm39) D463G possibly damaging Het
Taf4 C A 2: 179,573,805 (GRCm39) G688C probably damaging Het
Tasor2 A G 13: 3,623,507 (GRCm39) S2148P probably benign Het
Tpte T A 8: 22,856,000 (GRCm39) V600E probably damaging Het
Ttn A G 2: 76,651,510 (GRCm39) V10953A probably benign Het
Vav2 T C 2: 27,178,691 (GRCm39) Y333C probably benign Het
Vav2 A G 2: 27,181,415 (GRCm39) S311P probably damaging Het
Zbtb26 A C 2: 37,327,000 (GRCm39) M1R probably null Het
Zfp26 G A 9: 20,353,525 (GRCm39) P88L probably benign Het
Zfp324 T C 7: 12,704,794 (GRCm39) F328L probably damaging Het
Other mutations in Scrib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Scrib APN 15 75,920,643 (GRCm39) missense possibly damaging 0.49
IGL00905:Scrib APN 15 75,936,839 (GRCm39) missense probably damaging 0.96
IGL01529:Scrib APN 15 75,921,084 (GRCm39) missense possibly damaging 0.66
IGL01896:Scrib APN 15 75,937,967 (GRCm39) missense possibly damaging 0.75
IGL01947:Scrib APN 15 75,933,616 (GRCm39) missense probably benign 0.01
IGL02219:Scrib APN 15 75,936,885 (GRCm39) nonsense probably null
IGL02372:Scrib APN 15 75,920,104 (GRCm39) missense probably damaging 0.99
IGL02880:Scrib APN 15 75,937,973 (GRCm39) missense probably damaging 1.00
IGL02959:Scrib APN 15 75,937,056 (GRCm39) missense probably damaging 0.99
R0605:Scrib UTSW 15 75,939,402 (GRCm39) missense possibly damaging 0.89
R0711:Scrib UTSW 15 75,938,756 (GRCm39) unclassified probably benign
R0757:Scrib UTSW 15 75,934,599 (GRCm39) small deletion probably benign
R0903:Scrib UTSW 15 75,938,704 (GRCm39) missense possibly damaging 0.95
R0959:Scrib UTSW 15 75,923,310 (GRCm39) missense probably benign 0.34
R1483:Scrib UTSW 15 75,929,771 (GRCm39) missense probably damaging 1.00
R1551:Scrib UTSW 15 75,937,011 (GRCm39) missense probably damaging 1.00
R1604:Scrib UTSW 15 75,920,089 (GRCm39) missense probably damaging 0.97
R1613:Scrib UTSW 15 75,920,391 (GRCm39) missense probably damaging 1.00
R1615:Scrib UTSW 15 75,938,054 (GRCm39) missense probably benign 0.39
R1681:Scrib UTSW 15 75,936,416 (GRCm39) missense probably damaging 1.00
R3110:Scrib UTSW 15 75,941,223 (GRCm39) missense probably damaging 0.98
R3112:Scrib UTSW 15 75,941,223 (GRCm39) missense probably damaging 0.98
R4660:Scrib UTSW 15 75,937,185 (GRCm39) missense probably damaging 0.98
R4976:Scrib UTSW 15 75,923,602 (GRCm39) critical splice donor site probably null
R5119:Scrib UTSW 15 75,923,602 (GRCm39) critical splice donor site probably null
R5243:Scrib UTSW 15 75,937,101 (GRCm39) missense probably benign 0.00
R5246:Scrib UTSW 15 75,936,646 (GRCm39) missense probably benign 0.19
R5483:Scrib UTSW 15 75,939,508 (GRCm39) critical splice donor site probably null
R5516:Scrib UTSW 15 75,934,712 (GRCm39) missense possibly damaging 0.50
R5628:Scrib UTSW 15 75,921,389 (GRCm39) missense possibly damaging 0.66
R5787:Scrib UTSW 15 75,931,151 (GRCm39) missense probably damaging 1.00
R5894:Scrib UTSW 15 75,939,581 (GRCm39) missense probably damaging 0.99
R6005:Scrib UTSW 15 75,929,600 (GRCm39) missense probably damaging 1.00
R6041:Scrib UTSW 15 75,939,021 (GRCm39) missense possibly damaging 0.93
R6351:Scrib UTSW 15 75,936,835 (GRCm39) missense possibly damaging 0.65
R6603:Scrib UTSW 15 75,934,572 (GRCm39) missense probably benign 0.00
R7298:Scrib UTSW 15 75,936,610 (GRCm39) missense probably damaging 1.00
R7344:Scrib UTSW 15 75,921,107 (GRCm39) missense probably damaging 1.00
R7428:Scrib UTSW 15 75,933,047 (GRCm39) missense probably damaging 1.00
R7486:Scrib UTSW 15 75,929,499 (GRCm39) missense probably damaging 1.00
R7764:Scrib UTSW 15 75,919,242 (GRCm39) makesense probably null
R7994:Scrib UTSW 15 75,936,431 (GRCm39) missense probably damaging 1.00
R8084:Scrib UTSW 15 75,937,940 (GRCm39) missense probably benign 0.07
R8096:Scrib UTSW 15 75,934,558 (GRCm39) missense probably benign
R8157:Scrib UTSW 15 75,931,037 (GRCm39) missense possibly damaging 0.52
R8217:Scrib UTSW 15 75,939,004 (GRCm39) missense probably damaging 0.99
R8693:Scrib UTSW 15 75,936,354 (GRCm39) missense probably damaging 0.98
R8731:Scrib UTSW 15 75,935,488 (GRCm39) missense probably benign
R8922:Scrib UTSW 15 75,933,587 (GRCm39) critical splice donor site probably null
R9163:Scrib UTSW 15 75,921,108 (GRCm39) missense probably damaging 1.00
R9457:Scrib UTSW 15 75,939,148 (GRCm39) missense probably damaging 1.00
R9646:Scrib UTSW 15 75,932,492 (GRCm39) missense probably damaging 1.00
Z1088:Scrib UTSW 15 75,920,080 (GRCm39) missense probably damaging 0.99
Z1177:Scrib UTSW 15 75,929,619 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGCTCTCTTCGTGGTGGC -3'
(R):5'- AAAGAGTTGGCCAGTCAAGC -3'

Sequencing Primer
(F):5'- TGGCCTTGGGACACAGG -3'
(R):5'- AGTCAAGCCCTACCCTGG -3'
Posted On 2015-04-30