Incidental Mutation 'R7463:Pcdh10'
ID 578545
Institutional Source Beutler Lab
Gene Symbol Pcdh10
Ensembl Gene ENSMUSG00000049100
Gene Name protocadherin 10
Synonyms Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik
MMRRC Submission 045537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R7463 (G1)
Quality Score 204.009
Status Validated
Chromosome 3
Chromosomal Location 45332833-45389014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45338007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 891 (R891S)
Ref Sequence ENSEMBL: ENSMUSP00000131073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166126] [ENSMUST00000170695] [ENSMUST00000171554] [ENSMUST00000193252]
AlphaFold E9PXQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000166126
AA Change: R891S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: R891S

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: R891S

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: R891S

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 possibly damaging
Transcript: ENSMUST00000171554
AA Change: R891S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: R891S

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: ENSMUST00000193252
SMART Domains Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100

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
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,634,698 (GRCm39) V435E probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adcy2 T C 13: 68,878,399 (GRCm39) D413G probably damaging Het
Adgrg6 T A 10: 14,310,140 (GRCm39) D727V possibly damaging Het
Aebp2 C T 6: 140,583,452 (GRCm39) Q309* probably null Het
Amy1 A T 3: 113,363,533 (GRCm39) C43* probably null Het
Bpifc T C 10: 85,815,198 (GRCm39) E256G probably benign Het
Bysl A T 17: 47,913,396 (GRCm39) S296T probably benign Het
Carmil3 C T 14: 55,739,853 (GRCm39) P980L probably damaging Het
Coch T A 12: 51,640,408 (GRCm39) M1K probably null Het
Cpt2 A T 4: 107,765,354 (GRCm39) F137I probably damaging Het
Crem T C 18: 3,295,094 (GRCm39) I112V probably benign Het
Cul9 A G 17: 46,831,402 (GRCm39) probably null Het
Cyp3a41a T A 5: 145,650,374 (GRCm39) I90F probably damaging Het
Cyp4f16 C T 17: 32,769,761 (GRCm39) A457V possibly damaging Het
Ddx6 A G 9: 44,540,026 (GRCm39) E318G probably damaging Het
Dip2b A G 15: 100,052,038 (GRCm39) E213G probably benign Het
Dlx5 T C 6: 6,878,316 (GRCm39) H238R probably damaging Het
Dnai2 A C 11: 114,645,232 (GRCm39) I556L probably benign Het
Dnmt1 C T 9: 20,823,521 (GRCm39) V1147M possibly damaging Het
Egf G T 3: 129,533,664 (GRCm39) Q59K probably benign Het
Ermp1 A T 19: 29,623,662 (GRCm39) Y109* probably null Het
Fer1l6 T A 15: 58,445,450 (GRCm39) Y573* probably null Het
Fmnl1 T C 11: 103,083,954 (GRCm39) L503P probably damaging Het
Gnptab T G 10: 88,267,251 (GRCm39) I447M probably damaging Het
Hgf G A 5: 16,783,448 (GRCm39) D253N probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Igf2r T C 17: 12,929,532 (GRCm39) T958A probably benign Het
Kcnd2 T A 6: 21,216,497 (GRCm39) L67Q probably damaging Het
Kif5a A G 10: 127,079,593 (GRCm39) V248A probably damaging Het
Krt33b A G 11: 99,920,389 (GRCm39) I88T probably damaging Het
Lhx2 G A 2: 38,241,858 (GRCm39) E25K possibly damaging Het
Mex3d C T 10: 80,217,532 (GRCm39) G562R Het
Myom2 A T 8: 15,167,679 (GRCm39) Y1088F probably null Het
Ncapg T A 5: 45,851,434 (GRCm39) probably null Het
Nudc A C 4: 133,261,714 (GRCm39) V190G possibly damaging Het
Obscn G T 11: 59,013,686 (GRCm39) R1054S probably benign Het
Or10g1 A G 14: 52,648,168 (GRCm39) W54R probably benign Het
Or10g9 A G 9: 39,911,860 (GRCm39) V221A probably benign Het
Or2d4 A T 7: 106,543,380 (GRCm39) V276E probably damaging Het
Or52h9 T C 7: 104,202,689 (GRCm39) S188P possibly damaging Het
Or56a5 T A 7: 104,793,144 (GRCm39) M119L probably benign Het
Or8j3 T C 2: 86,028,182 (GRCm39) M305V probably benign Het
Pcdh15 C T 10: 74,467,602 (GRCm39) S1873L possibly damaging Het
Pcdh7 A G 5: 57,878,340 (GRCm39) K632E probably benign Het
Pcdhgb8 G A 18: 37,896,480 (GRCm39) A517T probably damaging Het
Ptgr2 A T 12: 84,339,072 (GRCm39) probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Racgap1 T A 15: 99,540,839 (GRCm39) T4S probably benign Het
Rb1cc1 A G 1: 6,319,404 (GRCm39) H941R probably benign Het
Reln T C 5: 22,308,433 (GRCm39) H312R probably damaging Het
Rnf166 T A 8: 123,194,726 (GRCm39) H208L probably damaging Het
Spmap2 T C 10: 79,412,549 (GRCm39) E314G probably damaging Het
Timeless T C 10: 128,086,295 (GRCm39) S999P probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tor1aip1 A T 1: 155,883,355 (GRCm39) H349Q possibly damaging Het
Ttn T A 2: 76,750,804 (GRCm39) E3415V probably benign Het
Vmn2r102 A T 17: 19,896,886 (GRCm39) N78Y probably damaging Het
Wdr11 A T 7: 129,208,810 (GRCm39) D427V probably damaging Het
Zer1 A T 2: 30,003,449 (GRCm39) probably benign Het
Zfp516 T A 18: 82,975,233 (GRCm39) M477K probably benign Het
Other mutations in Pcdh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Pcdh10 APN 3 45,334,737 (GRCm39) missense probably damaging 1.00
IGL01115:Pcdh10 APN 3 45,347,210 (GRCm39) missense probably damaging 1.00
IGL01535:Pcdh10 APN 3 45,334,078 (GRCm39) missense probably damaging 1.00
IGL01600:Pcdh10 APN 3 45,333,922 (GRCm39) missense probably damaging 0.98
IGL01625:Pcdh10 APN 3 45,333,832 (GRCm39) missense probably damaging 0.99
IGL01966:Pcdh10 APN 3 45,334,733 (GRCm39) missense probably benign 0.05
IGL02232:Pcdh10 APN 3 45,335,377 (GRCm39) missense probably benign 0.00
IGL02490:Pcdh10 APN 3 45,334,922 (GRCm39) missense probably damaging 1.00
IGL02890:Pcdh10 APN 3 45,347,052 (GRCm39) missense probably damaging 1.00
IGL02976:Pcdh10 APN 3 45,334,448 (GRCm39) missense possibly damaging 0.92
IGL02997:Pcdh10 APN 3 45,333,797 (GRCm39) missense probably damaging 1.00
IGL03006:Pcdh10 APN 3 45,333,937 (GRCm39) missense probably damaging 0.99
IGL03385:Pcdh10 APN 3 45,335,947 (GRCm39) missense possibly damaging 0.77
R0025:Pcdh10 UTSW 3 45,334,934 (GRCm39) missense possibly damaging 0.93
R0157:Pcdh10 UTSW 3 45,334,136 (GRCm39) missense probably damaging 1.00
R0372:Pcdh10 UTSW 3 45,333,932 (GRCm39) missense probably damaging 1.00
R0652:Pcdh10 UTSW 3 45,334,199 (GRCm39) missense probably damaging 1.00
R0760:Pcdh10 UTSW 3 45,335,005 (GRCm39) missense probably benign 0.19
R0976:Pcdh10 UTSW 3 45,335,236 (GRCm39) missense probably damaging 1.00
R1307:Pcdh10 UTSW 3 45,336,314 (GRCm39) missense probably benign 0.00
R1466:Pcdh10 UTSW 3 45,334,409 (GRCm39) missense probably damaging 1.00
R1466:Pcdh10 UTSW 3 45,334,409 (GRCm39) missense probably damaging 1.00
R1510:Pcdh10 UTSW 3 45,333,838 (GRCm39) missense probably damaging 1.00
R1619:Pcdh10 UTSW 3 45,334,747 (GRCm39) missense possibly damaging 0.94
R1678:Pcdh10 UTSW 3 45,336,316 (GRCm39) nonsense probably null
R1687:Pcdh10 UTSW 3 45,334,450 (GRCm39) missense probably damaging 1.00
R1750:Pcdh10 UTSW 3 45,336,316 (GRCm39) nonsense probably null
R1751:Pcdh10 UTSW 3 45,338,612 (GRCm39) missense probably damaging 1.00
R1767:Pcdh10 UTSW 3 45,338,612 (GRCm39) missense probably damaging 1.00
R1857:Pcdh10 UTSW 3 45,334,372 (GRCm39) missense possibly damaging 0.86
R2086:Pcdh10 UTSW 3 45,334,906 (GRCm39) missense probably damaging 0.98
R3960:Pcdh10 UTSW 3 45,333,749 (GRCm39) missense probably benign
R4083:Pcdh10 UTSW 3 45,347,142 (GRCm39) missense probably damaging 1.00
R4084:Pcdh10 UTSW 3 45,347,142 (GRCm39) missense probably damaging 1.00
R4112:Pcdh10 UTSW 3 45,336,055 (GRCm39) missense probably damaging 1.00
R4754:Pcdh10 UTSW 3 45,335,072 (GRCm39) missense probably damaging 0.99
R4946:Pcdh10 UTSW 3 45,333,917 (GRCm39) missense probably damaging 1.00
R5039:Pcdh10 UTSW 3 45,336,296 (GRCm39) missense probably damaging 1.00
R5224:Pcdh10 UTSW 3 45,347,249 (GRCm39) missense probably damaging 0.99
R5233:Pcdh10 UTSW 3 45,338,626 (GRCm39) missense probably damaging 1.00
R5261:Pcdh10 UTSW 3 45,336,247 (GRCm39) missense probably damaging 1.00
R5429:Pcdh10 UTSW 3 45,338,635 (GRCm39) missense probably benign 0.00
R5488:Pcdh10 UTSW 3 45,335,803 (GRCm39) missense probably damaging 1.00
R5558:Pcdh10 UTSW 3 45,338,603 (GRCm39) missense probably damaging 1.00
R5784:Pcdh10 UTSW 3 45,335,075 (GRCm39) missense probably damaging 1.00
R5815:Pcdh10 UTSW 3 45,347,156 (GRCm39) missense probably benign 0.04
R6283:Pcdh10 UTSW 3 45,335,989 (GRCm39) missense possibly damaging 0.46
R6396:Pcdh10 UTSW 3 45,334,495 (GRCm39) missense possibly damaging 0.46
R6703:Pcdh10 UTSW 3 45,335,734 (GRCm39) missense possibly damaging 0.87
R6756:Pcdh10 UTSW 3 45,334,541 (GRCm39) missense possibly damaging 0.80
R6968:Pcdh10 UTSW 3 45,333,977 (GRCm39) missense probably damaging 1.00
R7574:Pcdh10 UTSW 3 45,335,810 (GRCm39) missense possibly damaging 0.92
R7691:Pcdh10 UTSW 3 45,335,632 (GRCm39) missense probably damaging 1.00
R7795:Pcdh10 UTSW 3 45,334,657 (GRCm39) missense probably benign 0.09
R8057:Pcdh10 UTSW 3 45,333,694 (GRCm39) missense probably benign 0.00
R8082:Pcdh10 UTSW 3 45,336,179 (GRCm39) missense probably damaging 1.00
R8302:Pcdh10 UTSW 3 45,335,933 (GRCm39) missense probably damaging 0.99
R8411:Pcdh10 UTSW 3 45,333,974 (GRCm39) missense probably damaging 1.00
R8555:Pcdh10 UTSW 3 45,334,030 (GRCm39) missense probably benign 0.41
R8765:Pcdh10 UTSW 3 45,333,923 (GRCm39) missense probably damaging 1.00
R8940:Pcdh10 UTSW 3 45,338,620 (GRCm39) missense possibly damaging 0.83
R9146:Pcdh10 UTSW 3 45,334,351 (GRCm39) missense probably benign 0.08
R9306:Pcdh10 UTSW 3 45,335,804 (GRCm39) missense probably benign 0.30
R9330:Pcdh10 UTSW 3 45,335,618 (GRCm39) missense probably damaging 0.96
R9714:Pcdh10 UTSW 3 45,336,010 (GRCm39) missense probably damaging 0.98
X0013:Pcdh10 UTSW 3 45,334,001 (GRCm39) missense probably damaging 1.00
Z1177:Pcdh10 UTSW 3 45,336,164 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGCTGTGACCCTATGAAAACC -3'
(R):5'- TCAGTGTGAATAAGTCATAGAAGCTGG -3'

Sequencing Primer
(F):5'- TGACCCTATGAAAACCTTAAAATTCC -3'
(R):5'- TGAATAAGTCATAGAAGCTGGAAAAG -3'
Posted On 2019-10-07