Incidental Mutation 'R7044:Pcdh20'
ID 547227
Institutional Source Beutler Lab
Gene Symbol Pcdh20
Ensembl Gene ENSMUSG00000050505
Gene Name protocadherin 20
Synonyms PCDH13, C630015B17Rik
MMRRC Submission 045143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7044 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 88702183-88708832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88706607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 231 (I231T)
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: I231T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: I231T

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: I231T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: I231T

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T A 4: 32,815,260 (GRCm39) Q448L possibly damaging Het
Appl1 A G 14: 26,650,634 (GRCm39) S513P possibly damaging Het
Cdhr2 A T 13: 54,881,134 (GRCm39) K1066* probably null Het
Ckap5 T C 2: 91,407,946 (GRCm39) I824T probably benign Het
Cracdl C T 1: 37,651,361 (GRCm39) D1169N possibly damaging Het
Ctbp2 T C 7: 132,616,831 (GRCm39) R35G possibly damaging Het
Dcdc2c T C 12: 28,520,493 (GRCm39) probably benign Het
Eya1 T A 1: 14,301,634 (GRCm39) probably null Het
Fat4 G C 3: 39,064,959 (GRCm39) A4972P probably benign Het
Fat4 C T 3: 39,064,960 (GRCm39) A4972V probably benign Het
Fbxl8 T A 8: 105,993,647 (GRCm39) M1K probably null Het
Glyat T C 19: 12,627,629 (GRCm39) S75P probably benign Het
Gm3543 T A 14: 41,802,023 (GRCm39) I154F probably damaging Het
Gm4565 T A 7: 22,282,795 (GRCm39) M8L probably benign Het
Gpr179 T C 11: 97,240,616 (GRCm39) Q269R probably benign Het
Hjv C A 3: 96,434,790 (GRCm39) H176Q possibly damaging Het
Ikzf2 T C 1: 69,578,060 (GRCm39) H483R possibly damaging Het
Il25 G A 14: 55,170,615 (GRCm39) A63T probably benign Het
Krt27 T A 11: 99,237,640 (GRCm39) N366I probably benign Het
Mfge8 A G 7: 78,792,268 (GRCm39) V219A probably benign Het
Nrbp1 T C 5: 31,407,290 (GRCm39) V373A probably damaging Het
Or4c100 A G 2: 88,356,830 (GRCm39) N301S probably benign Het
Otulinl A G 15: 27,657,321 (GRCm39) probably benign Het
Pfkp A G 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pikfyve T C 1: 65,286,013 (GRCm39) I1084T probably benign Het
Poteg T C 8: 27,939,923 (GRCm39) C27R probably damaging Het
Ptprz1 G A 6: 23,044,345 (GRCm39) V1266M probably damaging Het
Rpa1 T C 11: 75,203,628 (GRCm39) D358G probably damaging Het
Slx9 T C 10: 77,350,226 (GRCm39) D35G possibly damaging Het
Snapc4 A G 2: 26,259,965 (GRCm39) S495P probably damaging Het
Surf6 A G 2: 26,789,368 (GRCm39) I123T probably damaging Het
Sybu A T 15: 44,541,091 (GRCm39) S324T possibly damaging Het
Trim3 A T 7: 105,267,421 (GRCm39) S319R probably damaging Het
Trmt11 A G 10: 30,466,930 (GRCm39) F72L probably benign Het
Tsks C T 7: 44,593,216 (GRCm39) R61W probably damaging Het
Ube2k T C 5: 65,738,772 (GRCm39) V36A possibly damaging Het
Ube3a T C 7: 58,938,161 (GRCm39) V688A probably damaging Het
Vegfc A G 8: 54,610,080 (GRCm39) K79E possibly damaging Het
Vmn1r77 G A 7: 11,775,761 (GRCm39) R179Q probably benign Het
Vmn2r97 T A 17: 19,134,629 (GRCm39) F16I probably benign Het
Zfp451 A T 1: 33,841,248 (GRCm39) probably benign Het
Zfp600 C T 4: 146,131,892 (GRCm39) Q187* probably null 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
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
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'- ATGCTCACATACTGGTCCTGGG -3'
(R):5'- AAGCATTGTGCCTGGATGGG -3'

Sequencing Primer
(F):5'- GGGTTTCTCTGTCCAAAGCAC -3'
(R):5'- CGGCAGTACCTCCATTGC -3'
Posted On 2019-05-13