Incidental Mutation 'IGL02232:Pcdh10'
ID285779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh10
Ensembl Gene ENSMUSG00000049100
Gene Nameprotocadherin 10
Synonyms6430521D13Rik, OL-pc, 6430703F07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL02232
Quality Score
Status
Chromosome3
Chromosomal Location45378398-45435623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45380942 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 564 (I564V)
Ref Sequence ENSEMBL: ENSMUSP00000141529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166126] [ENSMUST00000170695] [ENSMUST00000171554] [ENSMUST00000193252]
Predicted Effect probably benign
Transcript: ENSMUST00000166126
AA Change: I564V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: I564V

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
Pfam:Cadherin_C_2 713 838 5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170695
AA Change: I564V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: I564V

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 751 772 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171554
AA Change: I564V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: I564V

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 751 772 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191843
Predicted Effect probably benign
Transcript: ENSMUST00000193252
AA Change: I564V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: I564V

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 751 772 N/A INTRINSIC
low complexity region 887 896 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195655
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
C2cd6 A G 1: 59,062,492 F336S probably damaging Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Cd274 T A 19: 29,382,538 L248M probably damaging Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Pemt T A 11: 59,976,854 T115S probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc2a9 G A 5: 38,436,670 A150V probably benign Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Slc7a6 G A 8: 106,196,574 C495Y possibly damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tmem41b A G 7: 109,978,753 V108A probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in Pcdh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Pcdh10 APN 3 45380302 missense probably damaging 1.00
IGL01115:Pcdh10 APN 3 45392775 missense probably damaging 1.00
IGL01535:Pcdh10 APN 3 45379643 missense probably damaging 1.00
IGL01600:Pcdh10 APN 3 45379487 missense probably damaging 0.98
IGL01625:Pcdh10 APN 3 45379397 missense probably damaging 0.99
IGL01966:Pcdh10 APN 3 45380298 missense probably benign 0.05
IGL02490:Pcdh10 APN 3 45380487 missense probably damaging 1.00
IGL02890:Pcdh10 APN 3 45392617 missense probably damaging 1.00
IGL02976:Pcdh10 APN 3 45380013 missense possibly damaging 0.92
IGL02997:Pcdh10 APN 3 45379362 missense probably damaging 1.00
IGL03006:Pcdh10 APN 3 45379502 missense probably damaging 0.99
IGL03385:Pcdh10 APN 3 45381512 missense possibly damaging 0.77
R0025:Pcdh10 UTSW 3 45380499 missense possibly damaging 0.93
R0157:Pcdh10 UTSW 3 45379701 missense probably damaging 1.00
R0372:Pcdh10 UTSW 3 45379497 missense probably damaging 1.00
R0652:Pcdh10 UTSW 3 45379764 missense probably damaging 1.00
R0760:Pcdh10 UTSW 3 45380570 missense probably benign 0.19
R0976:Pcdh10 UTSW 3 45380801 missense probably damaging 1.00
R1307:Pcdh10 UTSW 3 45381879 missense probably benign 0.00
R1466:Pcdh10 UTSW 3 45379974 missense probably damaging 1.00
R1466:Pcdh10 UTSW 3 45379974 missense probably damaging 1.00
R1510:Pcdh10 UTSW 3 45379403 missense probably damaging 1.00
R1619:Pcdh10 UTSW 3 45380312 missense possibly damaging 0.94
R1678:Pcdh10 UTSW 3 45381881 nonsense probably null
R1687:Pcdh10 UTSW 3 45380015 missense probably damaging 1.00
R1750:Pcdh10 UTSW 3 45381881 nonsense probably null
R1751:Pcdh10 UTSW 3 45384177 missense probably damaging 1.00
R1767:Pcdh10 UTSW 3 45384177 missense probably damaging 1.00
R1857:Pcdh10 UTSW 3 45379937 missense possibly damaging 0.86
R2086:Pcdh10 UTSW 3 45380471 missense probably damaging 0.98
R3960:Pcdh10 UTSW 3 45379314 missense probably benign
R4083:Pcdh10 UTSW 3 45392707 missense probably damaging 1.00
R4084:Pcdh10 UTSW 3 45392707 missense probably damaging 1.00
R4112:Pcdh10 UTSW 3 45381620 missense probably damaging 1.00
R4754:Pcdh10 UTSW 3 45380637 missense probably damaging 0.99
R4946:Pcdh10 UTSW 3 45379482 missense probably damaging 1.00
R5039:Pcdh10 UTSW 3 45381861 missense probably damaging 1.00
R5224:Pcdh10 UTSW 3 45392814 missense probably damaging 0.99
R5233:Pcdh10 UTSW 3 45384191 missense probably damaging 1.00
R5261:Pcdh10 UTSW 3 45381812 missense probably damaging 1.00
R5429:Pcdh10 UTSW 3 45384200 missense probably benign 0.00
R5488:Pcdh10 UTSW 3 45381368 missense probably damaging 1.00
R5558:Pcdh10 UTSW 3 45384168 missense probably damaging 1.00
R5784:Pcdh10 UTSW 3 45380640 missense probably damaging 1.00
R5815:Pcdh10 UTSW 3 45392721 missense probably benign 0.04
R6283:Pcdh10 UTSW 3 45381554 missense possibly damaging 0.46
R6396:Pcdh10 UTSW 3 45380060 missense possibly damaging 0.46
R6703:Pcdh10 UTSW 3 45381299 missense possibly damaging 0.87
R6756:Pcdh10 UTSW 3 45380106 missense possibly damaging 0.80
R6968:Pcdh10 UTSW 3 45379542 missense probably damaging 1.00
R7463:Pcdh10 UTSW 3 45383572 missense possibly damaging 0.59
R7574:Pcdh10 UTSW 3 45381375 missense possibly damaging 0.92
R7691:Pcdh10 UTSW 3 45381197 missense probably damaging 1.00
R7795:Pcdh10 UTSW 3 45380222 missense probably benign 0.09
R8057:Pcdh10 UTSW 3 45379259 missense probably benign 0.00
X0013:Pcdh10 UTSW 3 45379566 missense probably damaging 1.00
Z1177:Pcdh10 UTSW 3 45381729 missense probably benign 0.06
Posted On2015-04-16