Incidental Mutation 'R1708:Pcdh9'
ID 190252
Institutional Source Beutler Lab
Gene Symbol Pcdh9
Ensembl Gene ENSMUSG00000055421
Gene Name protocadherin 9
Synonyms C630029H24Rik, LOC382930, A730003J17Rik, 1500001L12Rik, C530050I23Rik
MMRRC Submission 039741-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1708 (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 94125741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 143 (P143L)
Ref Sequence ENSEMBL: ENSMUSP00000141759 (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: P143L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: P143L

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: P20L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: P20L

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: P143L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: P143L

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: P143L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141602
Gene: ENSMUSG00000055421
AA Change: P143L

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: P143L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: P143L

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: P143L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: P143L

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 0.1364 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,941,732 (GRCm39) I4F probably benign Het
Aadacl4fm1 T C 4: 144,246,511 (GRCm39) V19A probably benign Het
Abca8a A T 11: 109,943,928 (GRCm39) S1114T probably damaging Het
Adgre1 A T 17: 57,708,974 (GRCm39) Y55F possibly damaging Het
Alb A C 5: 90,611,910 (GRCm39) D113A possibly damaging Het
Ankrd33b C T 15: 31,305,155 (GRCm39) R203Q probably damaging Het
Aqp6 T C 15: 99,500,543 (GRCm39) V156A possibly damaging Het
AU018091 T C 7: 3,206,184 (GRCm39) S616G probably damaging Het
Cfd T A 10: 79,727,441 (GRCm39) D68E probably benign Het
Cntn2 C T 1: 132,446,936 (GRCm39) A725T probably damaging Het
Copg2 A C 6: 30,801,312 (GRCm39) D373E probably damaging Het
Cyp2d11 T C 15: 82,274,633 (GRCm39) T315A probably benign Het
Cyp2j13 G T 4: 95,950,304 (GRCm39) N232K probably damaging Het
Cyp2j8 A T 4: 96,387,832 (GRCm39) F210I probably damaging Het
Dnah9 G A 11: 65,805,980 (GRCm39) T3373M probably benign Het
Eif2ak3 A G 6: 70,864,790 (GRCm39) K549E probably damaging Het
Epha3 C T 16: 63,403,870 (GRCm39) V744I probably damaging Het
Erich6 T C 3: 58,523,868 (GRCm39) S669G probably benign Het
Fam90a1a A T 8: 22,451,464 (GRCm39) K108N probably damaging Het
Fat1 G A 8: 45,477,829 (GRCm39) V2292M probably damaging Het
Fibp T C 19: 5,513,822 (GRCm39) C255R probably null Het
Fzd1 A G 5: 4,805,791 (GRCm39) V597A possibly damaging Het
Gm12790 G A 4: 101,825,174 (GRCm39) A80V possibly damaging Het
Gm2381 A T 7: 42,469,649 (GRCm39) N158K probably benign Het
Impg2 T A 16: 56,085,441 (GRCm39) D940E probably benign Het
Ints1 A T 5: 139,748,594 (GRCm39) V1071E probably damaging Het
Kat5 A T 19: 5,659,507 (GRCm39) Y44* probably null Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klra6 A C 6: 129,999,677 (GRCm39) L97* probably null Het
Ly6c2 C T 15: 74,983,469 (GRCm39) probably null Het
Mon1a G A 9: 107,775,917 (GRCm39) E12K probably benign Het
Myo3b A T 2: 70,075,729 (GRCm39) K578* probably null Het
Myrip A T 9: 120,293,840 (GRCm39) R778S possibly damaging Het
Ncoa4-ps A G 12: 119,225,968 (GRCm39) noncoding transcript Het
Or2w4 C T 13: 21,795,240 (GRCm39) A300T probably damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
Or4c35 A G 2: 89,808,382 (GRCm39) R87G probably benign Het
Or52n4b T A 7: 108,143,781 (GRCm39) F14L probably benign Het
Or5b121 T C 19: 13,507,277 (GRCm39) V80A probably damaging Het
Panx3 T C 9: 37,572,687 (GRCm39) I288V probably benign Het
Pigc T A 1: 161,798,293 (GRCm39) S92T probably benign Het
Pou3f2 C A 4: 22,487,255 (GRCm39) V293L possibly damaging Het
Rbm15 A G 3: 107,238,536 (GRCm39) S621P probably damaging Het
Rnf220 T C 4: 117,347,083 (GRCm39) S110G probably benign Het
Rnf38 A T 4: 44,143,593 (GRCm39) V115D probably damaging Het
Rps6ka2 A G 17: 7,544,929 (GRCm39) H347R probably damaging Het
Ryr2 T C 13: 11,602,328 (GRCm39) probably null Het
Sema4f G T 6: 82,894,975 (GRCm39) P407T probably damaging Het
Setbp1 T C 18: 78,901,682 (GRCm39) T662A probably damaging Het
Slc27a1 C A 8: 72,037,274 (GRCm39) probably null Het
Slc41a2 T A 10: 83,069,596 (GRCm39) I519F probably damaging Het
Sntg2 C T 12: 30,423,179 (GRCm39) S17N possibly damaging Het
Sptb A G 12: 76,659,348 (GRCm39) L1184P probably damaging Het
Taf5l G A 8: 124,736,509 (GRCm39) Q21* probably null Het
Tbc1d32 A C 10: 56,027,865 (GRCm39) S746A possibly damaging Het
Tdrd1 T G 19: 56,830,721 (GRCm39) S251R probably benign Het
Thap7 C T 16: 17,346,814 (GRCm39) R121Q probably benign Het
Tmem50a A G 4: 134,625,779 (GRCm39) V146A probably benign Het
Tmprss15 T C 16: 78,850,958 (GRCm39) I327V possibly damaging Het
Tmt1a3 A G 15: 100,233,150 (GRCm39) N114D probably damaging Het
Ttc23 T C 7: 67,316,924 (GRCm39) I65T probably damaging Het
Vmn1r22 G T 6: 57,877,481 (GRCm39) H165Q possibly damaging Het
Vopp1 C T 6: 57,739,497 (GRCm39) R17H probably damaging Het
Vwa5a A G 9: 38,639,128 (GRCm39) K337E probably benign Het
Wrap53 G A 11: 69,454,761 (GRCm39) R203* probably null Het
Zfp944 T C 17: 22,558,026 (GRCm39) Y407C probably 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
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'- GCTGAACAATCAATTGCGGCCAC -3'
(R):5'- TTCTCACATCAATGCTGCCACGGG -3'

Sequencing Primer
(F):5'- AATCAATTGCGGCCACTTTTC -3'
(R):5'- CCCTCTGGTGAAAGTATCGAG -3'
Posted On 2014-05-14