Incidental Mutation 'R5815:Pcdh20'
ID 449013
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 # R5815 (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 88708312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 39 (S39G)
Ref Sequence ENSEMBL: ENSMUSP00000141860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061628] [ENSMUST00000192557]
AlphaFold Q8BIZ0
Predicted Effect probably benign
Transcript: ENSMUST00000061628
AA Change: S39G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: S39G

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 benign
Transcript: ENSMUST00000192557
AA Change: S39G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: S39G

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid A G 11: 117,726,530 (GRCm39) D226G probably benign Het
Ago2 T C 15: 72,979,215 (GRCm39) probably null Het
Aldh1a1 C A 19: 20,608,034 (GRCm39) D285E probably benign Het
Alms1 T C 6: 85,599,820 (GRCm39) S1549P probably damaging Het
Apmap T C 2: 150,442,171 (GRCm39) S68G probably benign Het
Atp8a1 A T 5: 67,906,414 (GRCm39) I500N probably benign Het
B3gnt7 A C 1: 86,233,510 (GRCm39) D135A probably benign Het
Bms1 A T 6: 118,381,240 (GRCm39) L692H probably damaging Het
Cdk17 T A 10: 93,064,559 (GRCm39) V276E probably damaging Het
Cep290 A T 10: 100,393,970 (GRCm39) E2059V possibly damaging Het
Cpxm2 C A 7: 131,645,839 (GRCm39) G693V probably damaging Het
Crocc A T 4: 140,762,507 (GRCm39) V661E probably damaging Het
D1Pas1 A T 1: 186,700,206 (GRCm39) N45I probably damaging Het
Ddx19a C T 8: 111,705,781 (GRCm39) W223* probably null Het
Ddx60 C A 8: 62,416,756 (GRCm39) S567Y probably damaging Het
Dhx36 A T 3: 62,401,176 (GRCm39) N363K probably damaging Het
Gm57859 C A 11: 113,578,783 (GRCm39) probably null Het
Gpr151 G A 18: 42,712,450 (GRCm39) T76M probably benign Het
Inhbc C T 10: 127,193,318 (GRCm39) V233I probably benign Het
Ippk C T 13: 49,599,839 (GRCm39) L233F probably damaging Het
Lama2 A G 10: 26,862,847 (GRCm39) V2972A probably damaging Het
Lrrc37a T C 11: 103,394,612 (GRCm39) Q271R probably benign Het
Mia2 A T 12: 59,220,892 (GRCm39) K1083N possibly damaging Het
Mphosph9 A C 5: 124,453,481 (GRCm39) L277R probably damaging Het
Myo7b A T 18: 32,099,341 (GRCm39) F1694I probably damaging Het
Obscn T C 11: 58,973,015 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2w6 T C 13: 21,842,707 (GRCm39) Y262C probably damaging Het
Pcdh10 A G 3: 45,347,156 (GRCm39) T984A probably benign Het
Pdia3 T A 2: 121,266,892 (GRCm39) Y467* probably null Het
Ptpn13 C A 5: 103,745,556 (GRCm39) probably null Het
Reln A G 5: 22,152,431 (GRCm39) M2345T probably damaging Het
Rnf126 A T 10: 79,602,603 (GRCm39) I20N probably benign Het
Satb1 A G 17: 52,089,981 (GRCm39) S289P possibly damaging Het
Scd4 A T 19: 44,326,003 (GRCm39) H119L probably damaging Het
Sco2 T C 15: 89,256,574 (GRCm39) T27A probably benign Het
Slc39a14 A T 14: 70,544,194 (GRCm39) I464N probably damaging Het
Slc4a8 T A 15: 100,686,092 (GRCm39) V220E probably benign Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Tmf1 T A 6: 97,150,364 (GRCm39) T448S probably benign Het
Tspan33 G A 6: 29,710,688 (GRCm39) R87Q probably damaging Het
Vmn2r91 A T 17: 18,326,464 (GRCm39) M250L probably benign Het
Zc3h7a A T 16: 10,974,050 (GRCm39) V245D 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
R2430:Pcdh20 UTSW 14 88,704,984 (GRCm39) missense probably damaging 1.00
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
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'- CCGAGGGACCAAGCTATTTG -3'
(R):5'- TGAAGTTCCCCGGCGATTTG -3'

Sequencing Primer
(F):5'- TGTTTAAAATACCTTGGGCTCAG -3'
(R):5'- TTTGCATGAACAGAGAGGGAGTGTC -3'
Posted On 2016-12-20