Incidental Mutation 'R9665:Pcdh20'
ID 727793
Institutional Source Beutler Lab
Gene Symbol Pcdh20
Ensembl Gene ENSMUSG00000050505
Gene Name protocadherin 20
Synonyms PCDH13, C630015B17Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9665 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 88702183-88708832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88707162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 46 (V46D)
Ref Sequence ENSEMBL: ENSMUSP00000054774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061628] [ENSMUST00000192557]
AlphaFold Q8BIZ0
Predicted Effect probably benign
Transcript: ENSMUST00000061628
AA Change: V46D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054774
Gene: ENSMUSG00000050505
AA Change: V46D

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: V46D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141860
Gene: ENSMUSG00000050505
AA Change: V46D

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,796 (GRCm39) E79G probably damaging Het
4930583I09Rik T A 17: 65,141,288 (GRCm39) Q78L unknown Het
9330159F19Rik G T 10: 29,103,344 (GRCm39) V642F probably benign Het
Abca9 T A 11: 110,006,280 (GRCm39) Q1275L probably benign Het
Abca9 G T 11: 110,006,281 (GRCm39) Q1275K probably benign Het
Ager C T 17: 34,819,090 (GRCm39) P313S probably benign Het
Ap4m1 T A 5: 138,171,273 (GRCm39) N98K probably benign Het
Arhgef12 T G 9: 42,929,650 (GRCm39) K215T possibly damaging Het
Arhgef4 T C 1: 34,849,518 (GRCm39) Y370H probably benign Het
Bcat1 T G 6: 144,994,488 (GRCm39) H3P probably benign Het
Btnl6 T A 17: 34,732,635 (GRCm39) Q313L probably benign Het
Cad T C 5: 31,229,703 (GRCm39) S1458P probably benign Het
Cfap161 A G 7: 83,442,579 (GRCm39) V78A probably benign Het
Chd2 C A 7: 73,079,555 (GRCm39) A1782S probably benign Het
Cimip2b T A 4: 43,427,554 (GRCm39) R257* probably null Het
Col4a3 A T 1: 82,668,301 (GRCm39) T1042S unknown Het
Cramp1 A T 17: 25,196,545 (GRCm39) N856K probably damaging Het
Crispld2 G A 8: 120,760,316 (GRCm39) R414H probably benign Het
Ctsb T A 14: 63,370,917 (GRCm39) probably null Het
Cyp2c69 T C 19: 39,839,504 (GRCm39) D373G possibly damaging Het
Dnah3 A G 7: 119,644,981 (GRCm39) V1100A probably benign Het
Dnajb6 A T 5: 29,971,374 (GRCm39) L225F probably damaging Het
Dscc1 A T 15: 54,946,837 (GRCm39) I296K unknown Het
Epb41l2 A G 10: 25,317,798 (GRCm39) D105G probably benign Het
Evpl G A 11: 116,123,497 (GRCm39) R292C probably damaging Het
Flnc T C 6: 29,455,447 (GRCm39) I2032T probably damaging Het
Fryl T A 5: 73,222,299 (GRCm39) D2094V probably damaging Het
Gigyf2 A G 1: 87,331,457 (GRCm39) S202G unknown Het
Hdgfl1 A T 13: 26,953,812 (GRCm39) M87K probably benign Het
Htra3 T A 5: 35,836,654 (GRCm39) I13F unknown Het
Igf2r T C 17: 12,913,027 (GRCm39) N1774D probably benign Het
Ighj1 A T 12: 113,393,446 (GRCm39) Y3N Het
Incenp T C 19: 9,871,329 (GRCm39) H100R unknown Het
Klrb1c A G 6: 128,760,625 (GRCm39) probably null Het
Lmbrd1 T A 1: 24,732,065 (GRCm39) V94D probably damaging Het
Lmna A T 3: 88,389,793 (GRCm39) S611T probably benign Het
Lsp1 A C 7: 142,044,142 (GRCm39) I296L probably benign Het
Mdga1 A T 17: 30,051,991 (GRCm39) I892N probably damaging Het
Micu3 A G 8: 40,828,666 (GRCm39) E351G probably benign Het
Mrpl35 A G 6: 71,795,704 (GRCm39) V61A probably benign Het
Nhsl1 A G 10: 18,401,599 (GRCm39) K908E possibly damaging Het
Nlk A G 11: 78,481,753 (GRCm39) L236P Het
Nwd1 T A 8: 73,401,106 (GRCm39) H735Q probably damaging Het
Or1e1b-ps1 A T 11: 73,845,656 (GRCm39) I47F probably benign Het
Or5d47 A G 2: 87,804,596 (GRCm39) S138P possibly damaging Het
Or5w17 A T 2: 87,583,671 (GRCm39) I222N probably damaging Het
Or7h8 T A 9: 20,124,402 (GRCm39) Y252* probably null Het
Otof T A 5: 30,584,895 (GRCm39) S70C probably benign Het
Pjvk A G 2: 76,487,827 (GRCm39) T240A probably benign Het
Pou2f1 A G 1: 165,703,600 (GRCm39) S697P probably damaging Het
Prkn T A 17: 11,286,062 (GRCm39) D18E possibly damaging Het
Prmt9 G A 8: 78,307,267 (GRCm39) V739I probably benign Het
Prr14 A G 7: 127,073,091 (GRCm39) D146G probably benign Het
Rai14 T G 15: 10,574,803 (GRCm39) E747D probably damaging Het
Rapgef4 A T 2: 72,036,018 (GRCm39) T504S probably benign Het
Rilpl2 C A 5: 124,616,240 (GRCm39) probably benign Het
Ror2 A T 13: 53,439,561 (GRCm39) M1K probably null Het
Shisa9 A G 16: 12,085,446 (GRCm39) T352A probably benign Het
Slc35a4 A G 18: 36,813,651 (GRCm39) N33S probably benign Het
Slx4 G T 16: 3,806,890 (GRCm39) L518I probably benign Het
Speer1i A G 5: 11,092,852 (GRCm39) K132R Het
Spon2 T C 5: 33,374,702 (GRCm39) T35A probably benign Het
Syne3 A C 12: 104,924,247 (GRCm39) L471R probably benign Het
Tas2r115 A G 6: 132,714,390 (GRCm39) L187S probably benign Het
Tbc1d30 G T 10: 121,102,886 (GRCm39) S715R possibly damaging Het
Tdrd1 A G 19: 56,819,572 (GRCm39) E24G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tjp1 A G 7: 64,962,644 (GRCm39) S1178P probably benign Het
Upf2 A G 2: 6,051,715 (GRCm39) S1126G unknown Het
Vmn1r128 G T 7: 21,083,362 (GRCm39) C22F probably damaging Het
Vmn2r95 G T 17: 18,660,607 (GRCm39) V340F probably damaging Het
Vps13c A T 9: 67,863,025 (GRCm39) K3014* probably null Het
Wdr75 T C 1: 45,843,013 (GRCm39) V126A unknown Het
Yeats4 A T 10: 117,053,343 (GRCm39) Y139* probably null Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zfp143 C G 7: 109,692,414 (GRCm39) I608M probably damaging Het
Zfp772 A T 7: 7,212,793 (GRCm39) M1K probably null Het
Zfp827 A G 8: 79,906,756 (GRCm39) M923V possibly 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
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
X0028:Pcdh20 UTSW 14 88,705,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCGGTTGTTTAGGGTCACATAC -3'
(R):5'- CCTCTGGCAGCAAGTTTCTAC -3'

Sequencing Primer
(F):5'- GGTCACATACTGGCCACTCAGTC -3'
(R):5'- GGCAGCAAGTTTCTACTTTGC -3'
Posted On 2022-10-06