Incidental Mutation 'R2430:Pcdh20'
ID 250382
Institutional Source Beutler Lab
Gene Symbol Pcdh20
Ensembl Gene ENSMUSG00000050505
Gene Name protocadherin 20
Synonyms PCDH13, C630015B17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2430 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 88702183-88708832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88704984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 772 (D772G)
Ref Sequence ENSEMBL: ENSMUSP00000141860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061628] [ENSMUST00000192557]
AlphaFold Q8BIZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000061628
AA Change: D772G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: D772G

DomainStartEndE-ValueType
CA 108 208 9.02e-1 SMART
CA 233 319 6.63e-16 SMART
CA 343 425 9.94e-2 SMART
CA 455 534 7.48e-3 SMART
CA 558 638 5.46e-26 SMART
CA 662 741 7.2e-26 SMART
CA 768 852 9.6e-13 SMART
low complexity region 860 871 N/A INTRINSIC
transmembrane domain 890 912 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192557
AA Change: D772G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: D772G

DomainStartEndE-ValueType
CA 108 208 9.02e-1 SMART
CA 233 319 6.63e-16 SMART
CA 343 425 9.94e-2 SMART
CA 455 534 7.48e-3 SMART
CA 558 638 5.46e-26 SMART
CA 662 741 7.2e-26 SMART
CA 768 852 9.6e-13 SMART
low complexity region 860 871 N/A INTRINSIC
transmembrane domain 890 912 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in cell adhesion in the nervous system and has been shown to be specifically expressed in newly differentiated olfactory sensory neurons and their axons during development. In adult mice, the expression of this protein in the olfactory system is more restricted but shows a gender difference with higher expression in the male than in the female. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc T C 15: 74,543,740 (GRCm39) E161G probably benign Het
Ass1 A G 2: 31,391,508 (GRCm39) H261R probably damaging Het
Car11 T A 7: 45,353,072 (GRCm39) probably null Het
Crebbp T C 16: 3,914,329 (GRCm39) H844R probably damaging Het
Dnai2 A G 11: 114,648,012 (GRCm39) probably benign Het
Eya2 T C 2: 165,558,050 (GRCm39) probably null Het
Klhl40 A G 9: 121,609,667 (GRCm39) D484G possibly damaging Het
Knstrn A G 2: 118,664,584 (GRCm39) probably benign Het
Nckap5 A G 1: 125,842,494 (GRCm39) S1838P probably damaging Het
Nipsnap2 A G 5: 129,821,855 (GRCm39) D117G possibly damaging Het
Nudt15 C T 14: 73,762,742 (GRCm39) probably benign Het
Or5w16 T A 2: 87,576,999 (GRCm39) M153K possibly damaging Het
Or8k35 A G 2: 86,425,052 (GRCm39) I40T probably benign Het
Pdss1 T A 2: 22,819,605 (GRCm39) Y289* probably null Het
Phc2 A T 4: 128,601,776 (GRCm39) Y77F probably damaging Het
Ppip5k2 A T 1: 97,662,755 (GRCm39) Y667N probably damaging Het
Prdm2 A G 4: 142,859,733 (GRCm39) S1186P possibly damaging Het
Prr36 A T 8: 4,263,488 (GRCm39) probably benign Het
Reck C T 4: 43,930,202 (GRCm39) T592I possibly damaging Het
Rprd2 T A 3: 95,672,107 (GRCm39) K1015* probably null Het
Tfrc T G 16: 32,445,529 (GRCm39) Y617D probably damaging Het
Tnfsf11 A C 14: 78,521,752 (GRCm39) D152E probably benign Het
Vmn2r54 T A 7: 12,365,933 (GRCm39) I334F probably damaging Het
Other mutations in Pcdh20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Pcdh20 APN 14 88,705,317 (GRCm39) missense possibly damaging 0.65
IGL01112:Pcdh20 APN 14 88,704,636 (GRCm39) missense probably benign 0.01
IGL01586:Pcdh20 APN 14 88,708,344 (GRCm39) missense probably benign 0.37
IGL02007:Pcdh20 APN 14 88,707,031 (GRCm39) missense probably benign 0.09
IGL02545:Pcdh20 APN 14 88,706,280 (GRCm39) missense possibly damaging 0.74
IGL02935:Pcdh20 APN 14 88,704,438 (GRCm39) utr 3 prime probably benign
PIT4362001:Pcdh20 UTSW 14 88,704,462 (GRCm39) missense probably damaging 0.97
PIT4403001:Pcdh20 UTSW 14 88,704,462 (GRCm39) missense probably damaging 0.97
PIT4453001:Pcdh20 UTSW 14 88,704,744 (GRCm39) missense probably damaging 1.00
R0322:Pcdh20 UTSW 14 88,706,383 (GRCm39) missense probably benign 0.24
R0372:Pcdh20 UTSW 14 88,706,439 (GRCm39) missense probably damaging 1.00
R0391:Pcdh20 UTSW 14 88,706,104 (GRCm39) missense probably benign
R0575:Pcdh20 UTSW 14 88,705,048 (GRCm39) missense probably damaging 1.00
R0789:Pcdh20 UTSW 14 88,706,226 (GRCm39) missense probably damaging 1.00
R1370:Pcdh20 UTSW 14 88,705,737 (GRCm39) missense probably benign 0.00
R1465:Pcdh20 UTSW 14 88,706,673 (GRCm39) missense probably benign 0.00
R1465:Pcdh20 UTSW 14 88,706,673 (GRCm39) missense probably benign 0.00
R1664:Pcdh20 UTSW 14 88,705,758 (GRCm39) missense possibly damaging 0.63
R1677:Pcdh20 UTSW 14 88,705,410 (GRCm39) missense probably damaging 1.00
R1764:Pcdh20 UTSW 14 88,706,620 (GRCm39) missense possibly damaging 0.77
R1907:Pcdh20 UTSW 14 88,706,140 (GRCm39) missense probably benign 0.01
R2043:Pcdh20 UTSW 14 88,704,591 (GRCm39) missense probably benign 0.01
R2471:Pcdh20 UTSW 14 88,704,672 (GRCm39) missense probably benign 0.00
R3838:Pcdh20 UTSW 14 88,705,899 (GRCm39) missense probably benign 0.00
R4163:Pcdh20 UTSW 14 88,705,615 (GRCm39) missense probably damaging 1.00
R4472:Pcdh20 UTSW 14 88,706,434 (GRCm39) missense probably benign 0.21
R4602:Pcdh20 UTSW 14 88,705,866 (GRCm39) missense probably damaging 1.00
R4681:Pcdh20 UTSW 14 88,705,052 (GRCm39) missense probably damaging 1.00
R4918:Pcdh20 UTSW 14 88,705,104 (GRCm39) missense probably damaging 1.00
R4921:Pcdh20 UTSW 14 88,707,162 (GRCm39) missense probably benign 0.01
R5204:Pcdh20 UTSW 14 88,706,351 (GRCm39) missense probably damaging 1.00
R5256:Pcdh20 UTSW 14 88,705,813 (GRCm39) missense probably benign
R5652:Pcdh20 UTSW 14 88,704,760 (GRCm39) missense probably damaging 1.00
R5815:Pcdh20 UTSW 14 88,708,312 (GRCm39) missense probably benign 0.03
R6195:Pcdh20 UTSW 14 88,705,488 (GRCm39) missense probably benign 0.39
R6233:Pcdh20 UTSW 14 88,705,488 (GRCm39) missense probably benign 0.39
R6848:Pcdh20 UTSW 14 88,704,690 (GRCm39) missense probably benign 0.03
R6913:Pcdh20 UTSW 14 88,706,038 (GRCm39) missense probably benign
R7044:Pcdh20 UTSW 14 88,706,607 (GRCm39) missense probably damaging 0.98
R7224:Pcdh20 UTSW 14 88,706,511 (GRCm39) missense possibly damaging 0.85
R7388:Pcdh20 UTSW 14 88,706,103 (GRCm39) missense probably benign 0.33
R7486:Pcdh20 UTSW 14 88,706,050 (GRCm39) missense possibly damaging 0.79
R7651:Pcdh20 UTSW 14 88,706,589 (GRCm39) missense probably damaging 1.00
R7664:Pcdh20 UTSW 14 88,706,803 (GRCm39) missense probably benign
R7706:Pcdh20 UTSW 14 88,704,793 (GRCm39) missense probably damaging 1.00
R7832:Pcdh20 UTSW 14 88,707,143 (GRCm39) missense probably null 0.02
R7892:Pcdh20 UTSW 14 88,704,867 (GRCm39) nonsense probably null
R8218:Pcdh20 UTSW 14 88,706,047 (GRCm39) missense probably damaging 0.96
R8545:Pcdh20 UTSW 14 88,706,601 (GRCm39) missense probably damaging 0.96
R8701:Pcdh20 UTSW 14 88,705,849 (GRCm39) missense possibly damaging 0.95
R9219:Pcdh20 UTSW 14 88,706,255 (GRCm39) missense probably benign 0.01
R9238:Pcdh20 UTSW 14 88,706,190 (GRCm39) missense probably benign 0.43
R9418:Pcdh20 UTSW 14 88,705,455 (GRCm39) missense probably benign
R9665:Pcdh20 UTSW 14 88,707,162 (GRCm39) missense probably benign 0.44
X0028:Pcdh20 UTSW 14 88,705,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTCACCATGACTGTGGAG -3'
(R):5'- CTTACACTCTGTGGGTGGAG -3'

Sequencing Primer
(F):5'- CTCAGGGTATCCGTGATCAC -3'
(R):5'- TGGAGGCTGTTGACGGG -3'
Posted On 2014-11-12