Incidental Mutation 'IGL03171:Prickle3'
ID 411842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prickle3
Ensembl Gene ENSMUSG00000031145
Gene Name prickle planar cell polarity protein 3
Synonyms Sfc16, Lmo6
Accession Numbers
Essential gene? Not available question?
Stock # IGL03171
Quality Score
Status
Chromosome X
Chromosomal Location 7523584-7534425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7531526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 277 (C277R)
Ref Sequence ENSEMBL: ENSMUSP00000033485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033485] [ENSMUST00000033486] [ENSMUST00000129662]
AlphaFold Q80VL3
Predicted Effect probably damaging
Transcript: ENSMUST00000033485
AA Change: C277R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033485
Gene: ENSMUSG00000031145
AA Change: C277R

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:PET 76 176 1.8e-44 PFAM
LIM 185 242 3.15e-12 SMART
LIM 250 302 1.42e-10 SMART
LIM 310 365 1.46e-7 SMART
low complexity region 383 409 N/A INTRINSIC
low complexity region 497 542 N/A INTRINSIC
low complexity region 543 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033486
SMART Domains Protein: ENSMUSP00000033486
Gene: ENSMUSG00000031146

DomainStartEndE-ValueType
Pfam:MARVEL 19 132 2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123172
SMART Domains Protein: ENSMUSP00000129706
Gene: ENSMUSG00000031145

DomainStartEndE-ValueType
Pfam:PET 17 97 7.2e-33 PFAM
LIM 104 161 3.15e-12 SMART
LIM 169 221 1.42e-10 SMART
LIM 229 284 1.46e-7 SMART
low complexity region 302 328 N/A INTRINSIC
low complexity region 416 461 N/A INTRINSIC
low complexity region 462 492 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129662
AA Change: C209R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127892
Gene: ENSMUSG00000031145
AA Change: C209R

DomainStartEndE-ValueType
Pfam:PET 5 110 1.6e-45 PFAM
LIM 117 174 3.15e-12 SMART
LIM 182 234 1.42e-10 SMART
LIM 242 297 1.46e-7 SMART
low complexity region 315 341 N/A INTRINSIC
low complexity region 429 474 N/A INTRINSIC
low complexity region 475 505 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153994
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,139,377 (GRCm39) F434Y possibly damaging Het
Adam19 G T 11: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
Gm527 T C 12: 64,967,931 (GRCm39) Y118H probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pacrg A G 17: 10,795,462 (GRCm39) V166A possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Scn4a C A 11: 106,236,418 (GRCm39) V281L probably benign Het
Shcbp1 A G 8: 4,789,166 (GRCm39) I551T probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Trip6 C T 5: 137,311,146 (GRCm39) R190Q probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly damaging Het
Other mutations in Prickle3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03342:Prickle3 APN X 7,529,735 (GRCm39) missense probably benign 0.15
Posted On 2016-08-02