Incidental Mutation 'R1615:Scrib'
ID 177076
Institutional Source Beutler Lab
Gene Symbol Scrib
Ensembl Gene ENSMUSG00000022568
Gene Name scribbled planar cell polarity
Synonyms Scrb1, Crc
MMRRC Submission 039652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1615 (G1)
Quality Score 124
Status Validated
Chromosome 15
Chromosomal Location 75919011-75941633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75938054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 264 (Q264R)
Ref Sequence ENSEMBL: ENSMUSP00000105572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000227316]
AlphaFold Q80U72
Predicted Effect probably benign
Transcript: ENSMUST00000002599
SMART Domains Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
RRM 118 191 1.21e-22 SMART
RRM 215 288 1.6e-22 SMART
low complexity region 290 338 N/A INTRINSIC
low complexity region 400 420 N/A INTRINSIC
RRM 451 533 7.68e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000002603
AA Change: Q264R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: Q264R

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 probably benign
Transcript: ENSMUST00000063747
AA Change: Q264R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: Q264R

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 probably benign
Transcript: ENSMUST00000100527
SMART Domains Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
RRM 135 208 1.21e-22 SMART
RRM 232 305 1.6e-22 SMART
low complexity region 307 355 N/A INTRINSIC
low complexity region 417 437 N/A INTRINSIC
RRM 468 550 7.68e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109946
AA Change: Q264R

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: Q264R

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 noncoding transcript
Transcript: ENSMUST00000185092
Predicted Effect probably benign
Transcript: ENSMUST00000227316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227251
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (64/65)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,743,625 (GRCm39) C328S probably benign Het
Adgrv1 G T 13: 81,572,407 (GRCm39) T4918K probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Amer3 T C 1: 34,627,252 (GRCm39) M497T probably damaging Het
Arid2 C T 15: 96,269,535 (GRCm39) T1216M possibly damaging Het
Birc6 A G 17: 74,916,404 (GRCm39) probably null Het
Bzw2 A G 12: 36,169,126 (GRCm39) probably benign Het
Ccr1 T C 9: 123,763,573 (GRCm39) H319R probably benign Het
Dnah11 A G 12: 118,014,457 (GRCm39) I2010T probably damaging Het
Dnhd1 A G 7: 105,352,413 (GRCm39) Y2522C probably benign Het
Dnhd1 T A 7: 105,362,913 (GRCm39) I3825K possibly damaging Het
Dst A T 1: 34,238,452 (GRCm39) D3718V probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Fbxw21 T C 9: 108,972,794 (GRCm39) Y380C probably damaging Het
Fhad1 G A 4: 141,649,634 (GRCm39) T836M probably damaging Het
Fhod1 C T 8: 106,074,463 (GRCm39) probably benign Het
Flt1 A G 5: 147,576,098 (GRCm39) C637R probably damaging Het
Fmnl2 A G 2: 53,008,436 (GRCm39) K809E probably damaging Het
Grm1 G T 10: 10,617,252 (GRCm39) Y510* probably null Het
Hey1 A T 3: 8,729,898 (GRCm39) H186Q possibly damaging Het
Insyn1 C T 9: 58,406,351 (GRCm39) A87V probably damaging Het
Itga2b C T 11: 102,350,963 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Lmcd1 A G 6: 112,250,911 (GRCm39) D7G probably benign Het
Lrrc1 T C 9: 77,342,400 (GRCm39) D358G possibly damaging Het
Lyn A G 4: 3,748,765 (GRCm39) K248E probably benign Het
Map4k4 A G 1: 40,045,990 (GRCm39) probably benign Het
Map4k5 A T 12: 69,891,187 (GRCm39) L160H probably damaging Het
Mtcl2 T G 2: 156,862,663 (GRCm39) H1422P probably damaging Het
Myo6 C T 9: 80,215,007 (GRCm39) R1247C probably damaging Het
Myo9a A G 9: 59,695,739 (GRCm39) E347G possibly damaging Het
Ndfip1 C T 18: 38,593,672 (GRCm39) P213S probably benign Het
Neurl3 T C 1: 36,308,470 (GRCm39) E114G possibly damaging Het
Nlrp14 A T 7: 106,795,370 (GRCm39) I877F probably benign Het
Obscn A G 11: 58,990,651 (GRCm39) S1733P probably benign Het
Oxgr1 A T 14: 120,260,185 (GRCm39) S7R probably benign Het
Plcb1 A T 2: 135,204,364 (GRCm39) probably benign Het
Prkag2 G T 5: 25,080,176 (GRCm39) N120K possibly damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Saraf A G 8: 34,632,442 (GRCm39) K174E possibly damaging Het
Sh3rf3 T A 10: 58,966,899 (GRCm39) M747K probably benign Het
Shf T C 2: 122,179,913 (GRCm39) H421R probably damaging Het
Slc35g3 A G 11: 69,651,368 (GRCm39) S228P probably damaging Het
Slit1 A G 19: 41,639,110 (GRCm39) probably benign Het
Srrm4 A G 5: 116,585,359 (GRCm39) probably benign Het
Stfa1 T G 16: 36,100,829 (GRCm39) V23G probably damaging Het
Swap70 A G 7: 109,872,498 (GRCm39) D371G probably benign Het
Tada2a T C 11: 83,993,926 (GRCm39) D186G probably damaging Het
Tdpoz3 C A 3: 93,733,618 (GRCm39) Q98K probably benign Het
Tgfbrap1 A G 1: 43,091,145 (GRCm39) V660A probably benign Het
Tnn A G 1: 159,945,978 (GRCm39) Y947H possibly damaging Het
Trim60 A T 8: 65,453,162 (GRCm39) C362* probably null Het
Vmn1r81 T A 7: 11,994,441 (GRCm39) N56Y probably damaging Het
Vsig8 A G 1: 172,387,280 (GRCm39) D52G probably damaging Het
Wdfy4 G A 14: 32,764,469 (GRCm39) R2140C 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
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
R4050:Scrib UTSW 15 75,923,322 (GRCm39) missense possibly damaging 0.91
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'- CATATGCCAAGAGTGCCCTAGCAAG -3'
(R):5'- ACCCAGGTTAGAGGTGTCCAAAGAG -3'

Sequencing Primer
(F):5'- AGCACCTCCCTTGGGATAAG -3'
(R):5'- ATTCATCCAGTTAGCACTCAGG -3'
Posted On 2014-04-24