Incidental Mutation 'R4602:Pcdh20'
ID 345743
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 # R4602 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 88702183-88708832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88705866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 478 (L478Q)
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: L478Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: L478Q

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: L478Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: L478Q

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,189 (GRCm39) K3158E possibly damaging Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Ankmy1 A T 1: 92,816,372 (GRCm39) N247K probably benign Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
Atp1a4 A C 1: 172,067,332 (GRCm39) M600R probably damaging Het
Baat A G 4: 49,502,727 (GRCm39) Y132H probably damaging Het
Ceacam15 A G 7: 16,405,906 (GRCm39) V215A probably damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clec14a C T 12: 58,314,767 (GRCm39) R285H probably benign Het
Ctnna1 T G 18: 35,312,880 (GRCm39) I244R possibly damaging Het
Dcxr T A 11: 120,617,130 (GRCm39) N105Y possibly damaging Het
Dnajc6 T C 4: 101,468,461 (GRCm39) F166L probably damaging Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Faf1 A G 4: 109,584,625 (GRCm39) D67G probably benign Het
Fancm G A 12: 65,171,718 (GRCm39) R1786H probably benign Het
Fnbp1 A G 2: 30,926,552 (GRCm39) probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gbp5 A G 3: 142,209,546 (GRCm39) E164G probably benign Het
Gm4922 A T 10: 18,660,007 (GRCm39) Y238* probably null Het
Gm8257 A G 14: 44,893,774 (GRCm39) Y62H probably damaging Het
Grin2b A G 6: 135,755,739 (GRCm39) F525S probably damaging Het
Hjv T G 3: 96,434,869 (GRCm39) S203A probably benign Het
Hsd17b3 C A 13: 64,210,984 (GRCm39) probably null Het
Ighv1-23 T A 12: 114,728,179 (GRCm39) Q81L probably benign Het
Inpp4b T C 8: 82,696,164 (GRCm39) V366A probably damaging Het
Jak1 G T 4: 101,036,791 (GRCm39) A283D possibly damaging Het
Kmt2d G T 15: 98,748,140 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mettl17 T C 14: 52,126,246 (GRCm39) V218A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nfat5 C T 8: 108,093,855 (GRCm39) Q699* probably null Het
Or4s2b G A 2: 88,508,240 (GRCm39) V14I probably benign Het
Or4s2b T G 2: 88,508,523 (GRCm39) V101G probably benign Het
Or7e174 C A 9: 20,012,540 (GRCm39) H162N probably benign Het
Osbpl7 C A 11: 96,947,095 (GRCm39) S265R possibly damaging Het
Pcdh15 A G 10: 74,430,046 (GRCm39) T1258A probably damaging Het
Pde11a A G 2: 75,988,677 (GRCm39) V488A probably benign Het
Phactr1 A T 13: 43,248,441 (GRCm39) E463D probably benign Het
Phaf1 C A 8: 105,973,520 (GRCm39) N282K possibly damaging Het
Samd9l A T 6: 3,373,935 (GRCm39) Y1109N probably damaging Het
Samd9l GAA GAAA 6: 3,373,937 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Sgk2 G A 2: 162,836,674 (GRCm39) probably null Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Spaca6 C T 17: 18,051,387 (GRCm39) A21V probably damaging Het
Sphkap G T 1: 83,256,782 (GRCm39) Y322* probably null Het
Sptlc3 G A 2: 139,478,600 (GRCm39) V520I probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Syt9 A T 7: 107,035,594 (GRCm39) K204* probably null Het
Taf3 A G 2: 9,957,468 (GRCm39) V233A probably damaging Het
Tbccd1 T C 16: 22,637,285 (GRCm39) probably null Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubac1 A T 2: 25,888,989 (GRCm39) I402N probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
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
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'- CAGGGGCATTGTCATTGTCG -3'
(R):5'- TAATGGACCTGGCTGTATCCCTG -3'

Sequencing Primer
(F):5'- GGCATTGTCATTGTCGTCTAAAAG -3'
(R):5'- GCTCTTGTATCGATCATCAAAGTCG -3'
Posted On 2015-09-25