Incidental Mutation 'R0499:Pcdh9'
ID 47054
Institutional Source Beutler Lab
Gene Symbol Pcdh9
Ensembl Gene ENSMUSG00000055421
Gene Name protocadherin 9
Synonyms C630029H24Rik, LOC382930, A730003J17Rik, 1500001L12Rik, C530050I23Rik
MMRRC Submission 038695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R0499 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 93250846-94128115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94123671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 833 (T833M)
Ref Sequence ENSEMBL: ENSMUSP00000141396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068992] [ENSMUST00000192221] [ENSMUST00000193901] [ENSMUST00000194056] [ENSMUST00000195376] [ENSMUST00000195826]
AlphaFold F8VPK8
Predicted Effect probably damaging
Transcript: ENSMUST00000068992
AA Change: T833M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: T833M

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: T710M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: T710M

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: T833M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: T833M

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: T833M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141602
Gene: ENSMUSG00000055421
AA Change: T833M

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 damaging
Transcript: ENSMUST00000195376
AA Change: T833M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: T833M

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 probably damaging
Transcript: ENSMUST00000195826
AA Change: T833M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: T833M

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 99% (97/98)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adap2 A T 11: 80,066,905 (GRCm39) R276S probably damaging Het
Agbl3 A T 6: 34,816,270 (GRCm39) M727L probably benign Het
Ahnak T A 19: 8,977,628 (GRCm39) probably benign Het
Ankmy1 G T 1: 92,813,948 (GRCm39) D410E probably damaging Het
Ankra2 T C 13: 98,402,962 (GRCm39) S70P probably damaging Het
Aox4 T C 1: 58,302,556 (GRCm39) probably null Het
Arl13b G A 16: 62,622,096 (GRCm39) T399I probably benign Het
Atad2 A T 15: 57,966,636 (GRCm39) D652E possibly damaging Het
Atad2 T G 15: 57,984,345 (GRCm39) M328L probably benign Het
Ccnb1 T C 13: 100,916,642 (GRCm39) probably null Het
Ccr2 G C 9: 123,905,976 (GRCm39) K85N possibly damaging Het
Ccr2 A T 9: 123,906,163 (GRCm39) T148S possibly damaging Het
Cdc20b T C 13: 113,192,484 (GRCm39) V59A probably benign Het
Cdin1 C T 2: 115,473,172 (GRCm39) R101W probably damaging Het
Cdkl3 T C 11: 51,923,243 (GRCm39) S507P possibly damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1g A G 8: 94,060,317 (GRCm39) F101L probably benign Het
Cimap1d T C 10: 79,476,099 (GRCm39) D155G probably damaging Het
Cntnap3 C T 13: 65,006,492 (GRCm39) D107N probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Cstf3 A G 2: 104,479,950 (GRCm39) I272M possibly damaging Het
Cyp2d40 T C 15: 82,645,418 (GRCm39) T150A probably benign Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dop1b A T 16: 93,567,325 (GRCm39) T1251S probably benign Het
Dtx2 G A 5: 136,057,957 (GRCm39) G421R probably damaging Het
Epb41l3 T A 17: 69,554,654 (GRCm39) D251E probably benign Het
Erg A C 16: 95,161,842 (GRCm39) Y305* probably null Het
Exosc4 G A 15: 76,213,766 (GRCm39) A197T probably benign Het
Fam227b T A 2: 125,942,829 (GRCm39) I323L probably benign Het
Far1 G T 7: 113,153,503 (GRCm39) probably benign Het
Fmod A G 1: 133,968,934 (GRCm39) I325V possibly damaging Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm4076 G T 13: 85,275,345 (GRCm39) noncoding transcript Het
Gm5134 A T 10: 75,828,359 (GRCm39) Y313F probably benign Het
H2-Q6 T A 17: 35,644,179 (GRCm39) F54I probably damaging Het
Hcrtr2 C A 9: 76,161,954 (GRCm39) L145F probably damaging Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Herc2 C A 7: 55,834,117 (GRCm39) C3107* probably null Het
Herc4 T C 10: 63,099,811 (GRCm39) V78A probably damaging Het
Hyal5 T C 6: 24,877,920 (GRCm39) W339R probably damaging Het
Igfbp6 T A 15: 102,056,419 (GRCm39) probably null Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Itgb4 C A 11: 115,870,521 (GRCm39) R117S probably benign Het
Lcorl C G 5: 45,891,711 (GRCm39) G214A probably benign Het
Lgals3bp T A 11: 118,289,019 (GRCm39) probably null Het
Lyst T A 13: 13,791,298 (GRCm39) L54I probably damaging Het
Mcm9 T C 10: 53,414,250 (GRCm39) T1015A probably benign Het
Mef2d T A 3: 88,063,825 (GRCm39) I84N probably damaging Het
Mmrn2 A G 14: 34,119,913 (GRCm39) N261S probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Mstn T A 1: 53,103,143 (GRCm39) Y160N probably damaging Het
Muc6 T C 7: 141,226,735 (GRCm39) T1431A probably benign Het
Nek9 A T 12: 85,348,657 (GRCm39) M959K probably benign Het
Or2ak6 G A 11: 58,593,069 (GRCm39) V181I probably benign Het
Or4f58 A T 2: 111,851,777 (GRCm39) C141S probably damaging Het
Or8b47 A T 9: 38,435,801 (GRCm39) M258L probably benign Het
Otog G T 7: 45,923,256 (GRCm39) G1044W probably damaging Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Plekhg1 T C 10: 3,887,971 (GRCm39) V355A probably damaging Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Psd T C 19: 46,310,600 (GRCm39) E483G probably damaging Het
Ptch2 T A 4: 116,968,340 (GRCm39) L905* probably null Het
Rxfp2 T A 5: 149,989,880 (GRCm39) N420K probably damaging Het
Scpppq1 C A 5: 104,222,747 (GRCm39) G24* probably null Het
Sde2 T A 1: 180,689,992 (GRCm39) D237E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shc3 C T 13: 51,634,264 (GRCm39) probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slc23a2 A G 2: 131,913,937 (GRCm39) L280P probably damaging Het
Smchd1 G T 17: 71,694,083 (GRCm39) Q1221K probably benign Het
Spmip2 T A 3: 79,313,093 (GRCm39) W56R probably damaging Het
Spocd1 A G 4: 129,849,263 (GRCm39) N694S possibly damaging Het
Styxl2 C A 1: 165,926,670 (GRCm39) V981L probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tmem131 A T 1: 36,880,754 (GRCm39) V172D probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Usp17le T C 7: 104,417,708 (GRCm39) N478S probably benign Het
Usp36 A G 11: 118,164,397 (GRCm39) V205A probably damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Vwf A T 6: 125,615,077 (GRCm39) H1176L probably benign Het
Zfyve28 C T 5: 34,389,550 (GRCm39) D217N possibly damaging Het
Zranb3 A C 1: 127,882,817 (GRCm39) probably null 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
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
R1867:Pcdh9 UTSW 14 94,125,471 (GRCm39) missense probably damaging 1.00
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'- CACTCTGAGGCACTGAAGTGATCTG -3'
(R):5'- GAAGAGAAGCCAGCACCTACTGATG -3'

Sequencing Primer
(F):5'- TCATGAACGGCATCATCGG -3'
(R):5'- CTTGTGGTCAACATAAGTGACCTG -3'
Posted On 2013-06-12