Incidental Mutation 'R1867:Pcdh9'
ID 208871
Institutional Source Beutler Lab
Gene Symbol Pcdh9
Ensembl Gene ENSMUSG00000055421
Gene Name protocadherin 9
Synonyms C630029H24Rik, LOC382930, A730003J17Rik, 1500001L12Rik, C530050I23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1867 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 93250846-94128115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94125471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 233 (S233L)
Ref Sequence ENSEMBL: ENSMUSP00000141602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068992] [ENSMUST00000192221] [ENSMUST00000193901] [ENSMUST00000194056] [ENSMUST00000195376] [ENSMUST00000195826]
AlphaFold F8VPK8
Predicted Effect possibly damaging
Transcript: ENSMUST00000068992
AA Change: S233L

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: S233L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 49 140 8.37e-3 SMART
CA 164 250 1.01e-20 SMART
CA 274 356 2.34e-25 SMART
CA 386 467 2.14e-19 SMART
CA 491 570 4.27e-28 SMART
CA 594 673 2.45e-28 SMART
CA 700 782 1.01e-6 SMART
transmembrane domain 814 836 N/A INTRINSIC
low complexity region 858 883 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192221
AA Change: S110L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: S110L

DomainStartEndE-ValueType
CA 41 127 1.01e-20 SMART
CA 151 233 2.34e-25 SMART
CA 263 344 2.14e-19 SMART
CA 368 447 4.27e-28 SMART
CA 471 550 2.45e-28 SMART
CA 577 659 1.01e-6 SMART
transmembrane domain 691 713 N/A INTRINSIC
low complexity region 735 760 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192817
Predicted Effect probably damaging
Transcript: ENSMUST00000193901
AA Change: S233L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: S233L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 49 140 8.37e-3 SMART
CA 164 250 1.01e-20 SMART
CA 274 356 2.34e-25 SMART
CA 386 467 2.14e-19 SMART
CA 491 570 4.27e-28 SMART
CA 594 673 2.45e-28 SMART
CA 700 782 1.01e-6 SMART
transmembrane domain 814 836 N/A INTRINSIC
low complexity region 858 883 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000194056
AA Change: S233L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141602
Gene: ENSMUSG00000055421
AA Change: S233L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 49 140 4.1e-5 SMART
CA 164 250 4.8e-23 SMART
CA 274 356 1.2e-27 SMART
CA 386 467 1.1e-21 SMART
CA 491 570 2e-30 SMART
CA 594 673 1.2e-30 SMART
CA 700 782 4.9e-9 SMART
transmembrane domain 814 836 N/A INTRINSIC
low complexity region 860 873 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194129
Predicted Effect probably benign
Transcript: ENSMUST00000195376
AA Change: S233L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: S233L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 49 140 4.1e-5 SMART
CA 164 250 4.8e-23 SMART
CA 274 356 1.2e-27 SMART
CA 386 467 1.1e-21 SMART
CA 491 570 2e-30 SMART
CA 594 673 1.2e-30 SMART
CA 700 782 4.9e-9 SMART
transmembrane domain 814 836 N/A INTRINSIC
low complexity region 858 883 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195826
AA Change: S233L

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: S233L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 49 140 8.37e-3 SMART
CA 164 250 1.01e-20 SMART
CA 274 356 2.34e-25 SMART
CA 386 467 2.14e-19 SMART
CA 491 570 4.27e-28 SMART
CA 594 673 2.45e-28 SMART
CA 700 782 1.01e-6 SMART
transmembrane domain 814 836 N/A INTRINSIC
low complexity region 858 883 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired long-term social and bject recognition and sensorimotor development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
Abca4 T A 3: 121,899,010 (GRCm39) I664N probably damaging Het
Acin1 T C 14: 54,881,718 (GRCm39) D335G probably damaging Het
Acoxl A G 2: 127,719,707 (GRCm39) Y156C probably damaging Het
Adamts20 A G 15: 94,236,340 (GRCm39) F844L probably benign Het
Ago1 A G 4: 126,335,029 (GRCm39) Y398H probably damaging Het
Aldob A G 4: 49,543,835 (GRCm39) V49A possibly damaging Het
Arhgap18 A G 10: 26,722,026 (GRCm39) E71G probably damaging Het
Asb12 G T X: 94,513,950 (GRCm39) H307N probably damaging Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
AY358078 T C 14: 52,037,504 (GRCm39) M1T probably null Het
Bcl2l15 A G 3: 103,745,914 (GRCm39) probably null Het
Brpf3 A G 17: 29,026,342 (GRCm39) M472V probably benign Het
Bsn A G 9: 107,983,918 (GRCm39) S3379P unknown Het
Cap2 T C 13: 46,793,555 (GRCm39) V333A probably damaging Het
Cd207 T A 6: 83,652,635 (GRCm39) D165V probably damaging Het
Cfap210 A T 2: 69,612,181 (GRCm39) probably null Het
Cmtr1 A G 17: 29,893,148 (GRCm39) T496A probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cstb A G 10: 78,263,273 (GRCm39) *99W probably null Het
Cstdc6 T G 16: 36,142,148 (GRCm39) D76A possibly damaging Het
Ddx11 G A 17: 66,442,934 (GRCm39) probably null Het
Dip2c T C 13: 9,671,985 (GRCm39) M990T possibly damaging Het
Epc2 A G 2: 49,422,117 (GRCm39) Y337C probably damaging Het
Fmn1 A G 2: 113,539,783 (GRCm39) E1326G probably damaging Het
Focad A T 4: 88,096,326 (GRCm39) D236V probably damaging Het
Fsd1 G A 17: 56,298,254 (GRCm39) S193N probably benign Het
Gm4922 T A 10: 18,660,211 (GRCm39) R170S possibly damaging Het
Gm5129 T C 5: 29,940,654 (GRCm39) probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hspbap1 A T 16: 35,621,934 (GRCm39) Y93F possibly damaging Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Il1rap A T 16: 26,541,676 (GRCm39) H639L probably damaging Het
Inhbc A T 10: 127,193,416 (GRCm39) V200E probably benign Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Kif23 C A 9: 61,826,243 (GRCm39) A929S possibly damaging Het
Kmt2b A T 7: 30,274,083 (GRCm39) V2207E possibly damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Mcmdc2 T C 1: 10,001,030 (GRCm39) V435A probably damaging Het
Mecom A G 3: 30,563,577 (GRCm39) probably null Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Mmp16 A T 4: 18,116,013 (GRCm39) D539V probably benign Het
Mpp1 A G X: 74,168,975 (GRCm39) probably null Het
Mpp2 C T 11: 101,955,493 (GRCm39) E86K probably benign Het
Mtor T A 4: 148,539,089 (GRCm39) F195L probably damaging Het
Myo3a T C 2: 22,404,657 (GRCm39) I663T probably benign Het
Nlrp5 G A 7: 23,123,407 (GRCm39) G756E possibly damaging Het
Nudt18 T C 14: 70,817,335 (GRCm39) L255P probably damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or52n20 T A 7: 104,320,524 (GRCm39) I205N possibly damaging Het
Or6c66 A T 10: 129,461,621 (GRCm39) I103K probably damaging Het
Or7g20 G A 9: 18,946,562 (GRCm39) A48T probably benign Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Pan2 A G 10: 128,149,050 (GRCm39) D506G probably damaging Het
Pcdhgc5 T G 18: 37,954,471 (GRCm39) S582A possibly damaging Het
Pdik1l T C 4: 134,006,222 (GRCm39) D70G probably damaging Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Pms1 C T 1: 53,228,546 (GRCm39) V901I probably benign Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Pole A G 5: 110,482,063 (GRCm39) E135G probably benign Het
Ppp6r2 C A 15: 89,166,141 (GRCm39) A715E probably benign Het
Prickle4 T G 17: 48,001,044 (GRCm39) H174P possibly damaging Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Prss32 C T 17: 24,072,868 (GRCm39) T33M probably benign Het
Psmd13 C T 7: 140,463,430 (GRCm39) T38I probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rbbp6 T C 7: 122,596,252 (GRCm39) V598A probably damaging Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rbm4b A G 19: 4,812,331 (GRCm39) T247A probably benign Het
Riiad1 G A 3: 94,380,176 (GRCm39) P40S possibly damaging Het
Sema4f T C 6: 82,894,824 (GRCm39) D457G possibly damaging Het
Sema6c A T 3: 95,078,099 (GRCm39) I492F probably damaging Het
Serpina3a A T 12: 104,084,886 (GRCm39) I94L probably benign Het
Skida1 TTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTG 2: 18,051,155 (GRCm39) probably benign Het
Slc38a1 G A 15: 96,485,016 (GRCm39) T221M probably damaging Het
Slc6a17 T A 3: 107,379,492 (GRCm39) M559L probably damaging Het
Sntg2 T C 12: 30,286,650 (GRCm39) N315D probably benign Het
Snx10 T A 6: 51,552,890 (GRCm39) V11E probably damaging Het
Spta1 A G 1: 174,047,405 (GRCm39) E1683G probably benign Het
Ssc5d A T 7: 4,931,506 (GRCm39) R238W probably damaging Het
Ssh1 A T 5: 114,081,512 (GRCm39) F617L probably damaging Het
Taf1 T G X: 100,606,563 (GRCm39) M1254R probably damaging Het
Tcirg1 A G 19: 3,948,835 (GRCm39) L450P probably damaging Het
Ticam1 C A 17: 56,578,718 (GRCm39) A126S probably benign Het
Tnxb T A 17: 34,890,821 (GRCm39) V388E probably damaging Het
Tomm5 A G 4: 45,107,939 (GRCm39) L32P probably damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp28 T G 9: 48,920,494 (GRCm39) D240E probably benign Het
Usp34 T C 11: 23,311,593 (GRCm39) Y462H possibly damaging Het
Utp14b C A 1: 78,643,148 (GRCm39) Q349K probably damaging Het
Utp20 G T 10: 88,585,305 (GRCm39) D2586E probably benign Het
Vmn1r173 A G 7: 23,402,660 (GRCm39) I298M unknown Het
Vmn1r37 T A 6: 66,708,461 (GRCm39) I29K probably benign Het
Vmn2r23 G A 6: 123,679,874 (GRCm39) G32D probably damaging Het
Xpo7 A T 14: 70,931,431 (GRCm39) F296I probably damaging Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp455 G T 13: 67,355,509 (GRCm39) R194L probably benign Het
Zfp663 T C 2: 165,194,651 (GRCm39) T523A possibly damaging Het
Other mutations in Pcdh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Pcdh9 APN 14 93,564,130 (GRCm39) missense probably damaging 1.00
IGL02183:Pcdh9 APN 14 94,123,720 (GRCm39) missense probably benign 0.01
IGL02244:Pcdh9 APN 14 93,564,204 (GRCm39) missense probably damaging 1.00
IGL02571:Pcdh9 APN 14 93,798,023 (GRCm39) splice site probably benign
IGL03018:Pcdh9 APN 14 93,253,012 (GRCm39) missense probably null
I1329:Pcdh9 UTSW 14 94,123,645 (GRCm39) missense probably benign 0.00
R0027:Pcdh9 UTSW 14 94,126,081 (GRCm39) missense probably null 0.99
R0027:Pcdh9 UTSW 14 94,126,081 (GRCm39) missense probably null 0.99
R0477:Pcdh9 UTSW 14 94,125,114 (GRCm39) missense probably damaging 0.99
R0499:Pcdh9 UTSW 14 94,123,671 (GRCm39) missense probably damaging 1.00
R0787:Pcdh9 UTSW 14 94,124,193 (GRCm39) missense possibly damaging 0.88
R1205:Pcdh9 UTSW 14 94,123,501 (GRCm39) missense probably benign 0.01
R1616:Pcdh9 UTSW 14 94,124,405 (GRCm39) nonsense probably null
R1620:Pcdh9 UTSW 14 94,125,741 (GRCm39) missense probably damaging 1.00
R1622:Pcdh9 UTSW 14 94,123,311 (GRCm39) missense probably benign 0.03
R1708:Pcdh9 UTSW 14 94,125,741 (GRCm39) missense probably damaging 1.00
R1721:Pcdh9 UTSW 14 94,125,471 (GRCm39) missense probably damaging 1.00
R1753:Pcdh9 UTSW 14 94,124,661 (GRCm39) missense probably benign 0.33
R1799:Pcdh9 UTSW 14 94,126,107 (GRCm39) missense probably benign 0.36
R1987:Pcdh9 UTSW 14 94,125,741 (GRCm39) missense probably damaging 1.00
R1988:Pcdh9 UTSW 14 94,125,741 (GRCm39) missense probably damaging 1.00
R2444:Pcdh9 UTSW 14 94,124,227 (GRCm39) missense probably benign 0.10
R3895:Pcdh9 UTSW 14 94,124,974 (GRCm39) missense probably damaging 1.00
R3926:Pcdh9 UTSW 14 94,124,246 (GRCm39) nonsense probably null
R4166:Pcdh9 UTSW 14 94,124,956 (GRCm39) nonsense probably null
R4429:Pcdh9 UTSW 14 94,124,820 (GRCm39) missense probably damaging 0.96
R4589:Pcdh9 UTSW 14 94,125,628 (GRCm39) missense probably damaging 1.00
R4604:Pcdh9 UTSW 14 94,124,616 (GRCm39) missense probably damaging 1.00
R4607:Pcdh9 UTSW 14 93,253,009 (GRCm39) missense probably benign 0.08
R4621:Pcdh9 UTSW 14 94,125,079 (GRCm39) missense probably benign 0.12
R4624:Pcdh9 UTSW 14 94,123,845 (GRCm39) missense probably damaging 1.00
R4712:Pcdh9 UTSW 14 94,126,067 (GRCm39) missense probably damaging 1.00
R4788:Pcdh9 UTSW 14 94,124,851 (GRCm39) missense probably damaging 1.00
R4831:Pcdh9 UTSW 14 94,125,377 (GRCm39) missense probably damaging 1.00
R4883:Pcdh9 UTSW 14 94,126,164 (GRCm39) missense possibly damaging 0.83
R5034:Pcdh9 UTSW 14 93,564,285 (GRCm39) missense probably benign 0.13
R5175:Pcdh9 UTSW 14 94,125,879 (GRCm39) missense probably damaging 1.00
R5637:Pcdh9 UTSW 14 94,123,198 (GRCm39) missense possibly damaging 0.91
R5743:Pcdh9 UTSW 14 94,124,160 (GRCm39) missense probably damaging 1.00
R5753:Pcdh9 UTSW 14 94,125,597 (GRCm39) missense probably damaging 1.00
R5770:Pcdh9 UTSW 14 94,124,379 (GRCm39) missense probably damaging 1.00
R5900:Pcdh9 UTSW 14 93,564,156 (GRCm39) missense probably damaging 0.98
R5986:Pcdh9 UTSW 14 94,124,484 (GRCm39) missense probably damaging 1.00
R6052:Pcdh9 UTSW 14 94,123,282 (GRCm39) missense probably benign 0.40
R6113:Pcdh9 UTSW 14 94,124,544 (GRCm39) missense probably damaging 1.00
R6223:Pcdh9 UTSW 14 93,253,169 (GRCm39) missense probably benign 0.18
R6415:Pcdh9 UTSW 14 93,253,278 (GRCm39) missense possibly damaging 0.83
R6435:Pcdh9 UTSW 14 94,125,280 (GRCm39) missense probably benign 0.01
R7064:Pcdh9 UTSW 14 94,123,585 (GRCm39) missense probably damaging 1.00
R7143:Pcdh9 UTSW 14 94,125,708 (GRCm39) missense probably damaging 0.99
R7219:Pcdh9 UTSW 14 93,253,216 (GRCm39) missense possibly damaging 0.87
R7262:Pcdh9 UTSW 14 93,253,141 (GRCm39) missense probably benign 0.01
R7354:Pcdh9 UTSW 14 94,125,706 (GRCm39) missense probably benign 0.28
R7369:Pcdh9 UTSW 14 94,123,803 (GRCm39) missense possibly damaging 0.67
R7427:Pcdh9 UTSW 14 94,124,547 (GRCm39) missense probably damaging 1.00
R7428:Pcdh9 UTSW 14 94,124,547 (GRCm39) missense probably damaging 1.00
R7780:Pcdh9 UTSW 14 94,123,987 (GRCm39) missense possibly damaging 0.91
R7870:Pcdh9 UTSW 14 94,124,693 (GRCm39) missense probably damaging 0.97
R7921:Pcdh9 UTSW 14 93,253,001 (GRCm39) missense probably benign
R8052:Pcdh9 UTSW 14 94,123,222 (GRCm39) missense probably benign 0.00
R8252:Pcdh9 UTSW 14 94,126,086 (GRCm39) missense probably damaging 1.00
R8671:Pcdh9 UTSW 14 94,126,086 (GRCm39) missense probably damaging 1.00
R8672:Pcdh9 UTSW 14 94,124,529 (GRCm39) missense probably benign 0.08
R8724:Pcdh9 UTSW 14 94,124,583 (GRCm39) missense probably benign 0.19
R8974:Pcdh9 UTSW 14 94,125,113 (GRCm39) missense probably benign 0.20
R9044:Pcdh9 UTSW 14 94,124,247 (GRCm39) missense probably damaging 1.00
R9486:Pcdh9 UTSW 14 93,797,956 (GRCm39) missense possibly damaging 0.73
R9534:Pcdh9 UTSW 14 94,123,656 (GRCm39) missense probably damaging 0.99
X0012:Pcdh9 UTSW 14 94,124,080 (GRCm39) missense possibly damaging 0.71
X0067:Pcdh9 UTSW 14 93,564,285 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCGGATTTCAGCATTACTGC -3'
(R):5'- ACTTTGATCAACAGCCGCTTTC -3'

Sequencing Primer
(F):5'- CCTATGTCTGCATCAGTGGCATG -3'
(R):5'- TGACACGGGCTTCAATGG -3'
Posted On 2014-06-30