Incidental Mutation 'R4624:Pcdh9'
ID 346447
Institutional Source Beutler Lab
Gene Symbol Pcdh9
Ensembl Gene ENSMUSG00000055421
Gene Name protocadherin 9
Synonyms C630029H24Rik, LOC382930, A730003J17Rik, 1500001L12Rik, C530050I23Rik
MMRRC Submission 041889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R4624 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 93250846-94128115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94123845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 775 (N775I)
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: N775I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: N775I

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: N652I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: N652I

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: N775I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: N775I

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: N775I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141602
Gene: ENSMUSG00000055421
AA Change: N775I

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: N775I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: N775I

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: N775I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: N775I

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 0.7872 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 93% (85/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,873 (GRCm39) T134A possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adgb C A 10: 10,278,748 (GRCm39) V267L probably benign Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd52 A G 10: 128,225,128 (GRCm39) H863R probably damaging Het
Ap3b1 A G 13: 94,619,734 (GRCm39) R766G unknown Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Bcr A T 10: 74,989,752 (GRCm39) E716V probably damaging Het
Borcs6 T C 11: 68,951,423 (GRCm39) L267P probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Ccdc50 A G 16: 27,255,351 (GRCm39) K223R probably null Het
Cd2 T G 3: 101,194,747 (GRCm39) K114Q probably benign Het
Cdh19 T C 1: 110,859,981 (GRCm39) K167E probably benign Het
Cep131 T C 11: 119,961,658 (GRCm39) E558G probably damaging Het
Cmya5 A T 13: 93,200,059 (GRCm39) V3423E probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cntn5 A T 9: 9,704,809 (GRCm39) C663* probably null Het
Dnaaf4 A G 9: 72,871,453 (GRCm39) I238V probably benign Het
Dnah12 T C 14: 26,456,913 (GRCm39) I893T possibly damaging Het
Dop1a G A 9: 86,403,578 (GRCm39) V129M probably damaging Het
Exoc6b A G 6: 84,831,791 (GRCm39) probably benign Het
Ext2 A G 2: 93,533,545 (GRCm39) V671A probably benign Het
Fcamr T G 1: 130,730,999 (GRCm39) L28R probably damaging Het
Fer1l6 T C 15: 58,425,554 (GRCm39) I144T probably damaging Het
Frem1 A G 4: 82,907,343 (GRCm39) L839P probably damaging Het
Fscn2 A T 11: 120,258,169 (GRCm39) I364F probably benign Het
Gm10291 T C 3: 78,824,581 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,362,676 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,710,823 (GRCm39) M908V probably damaging Het
Helz2 T C 2: 180,881,101 (GRCm39) E436G probably damaging Het
Hfe A T 13: 23,890,061 (GRCm39) C149* probably null Het
Hs1bp3 T C 12: 8,386,357 (GRCm39) V253A probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnh3 T A 15: 99,124,253 (GRCm39) D47E probably damaging Het
Kcp A G 6: 29,482,813 (GRCm39) F1419L possibly damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Klhl24 A G 16: 19,938,873 (GRCm39) D476G probably damaging Het
Krt79 T A 15: 101,848,241 (GRCm39) T137S possibly damaging Het
Lilrb4a A G 10: 51,367,584 (GRCm39) Y42C probably damaging Het
Lnx1 C T 5: 74,821,121 (GRCm39) probably benign Het
Map3k14 A G 11: 103,121,927 (GRCm39) Y497H probably damaging Het
Mmut G A 17: 41,257,946 (GRCm39) E371K probably damaging Het
Nkx2-6 A G 14: 69,412,375 (GRCm39) Q181R probably damaging Het
Notch1 T C 2: 26,368,093 (GRCm39) K631R possibly damaging Het
Or5an10 C T 19: 12,276,347 (GRCm39) V50I probably benign Het
Phkb T A 8: 86,575,341 (GRCm39) probably benign Het
Pick1 T A 15: 79,130,666 (GRCm39) I250N probably damaging Het
Plec T C 15: 76,059,335 (GRCm39) E3556G probably damaging Het
Prex2 C T 1: 11,359,489 (GRCm39) Q1566* probably null Het
Ptgr2 T G 12: 84,355,128 (GRCm39) F287L possibly damaging Het
Ptprv T C 1: 135,051,869 (GRCm39) noncoding transcript Het
Rab5b G T 10: 128,519,130 (GRCm39) H83Q probably benign Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rsrc1 T C 3: 67,257,311 (GRCm39) V241A probably damaging Het
Ryr2 A T 13: 12,121,301 (GRCm39) I11N possibly damaging Het
S100a11 T C 3: 93,433,321 (GRCm39) L55P probably damaging Het
Sec13 A G 6: 113,706,652 (GRCm39) S254P probably benign Het
Slc25a36 G A 9: 96,961,178 (GRCm39) T147I probably damaging Het
Spata31d1c A G 13: 65,184,411 (GRCm39) E651G probably benign Het
Stox2 C A 8: 47,646,851 (GRCm39) R203L probably damaging Het
Tbc1d30 A T 10: 121,132,691 (GRCm39) D224E probably damaging Het
Tdrd6 A G 17: 43,936,881 (GRCm39) L1389P probably damaging Het
Tmprss11b T C 5: 86,812,895 (GRCm39) S134G probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Tnnt1 G A 7: 4,515,267 (GRCm39) probably benign Het
Tpst2 A G 5: 112,456,162 (GRCm39) M234V probably damaging Het
Ttbk2 T C 2: 120,603,804 (GRCm39) D208G probably benign Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc45b T A 11: 82,816,835 (GRCm39) M425K probably benign Het
Uvssa G A 5: 33,547,300 (GRCm39) E289K possibly damaging Het
Vmn2r11 T A 5: 109,200,101 (GRCm39) R451W probably damaging Het
Vmn2r45 T C 7: 8,484,341 (GRCm39) Y488C probably damaging Het
Vmn2r55 T A 7: 12,404,627 (GRCm39) I259F possibly damaging Het
Wdfy3 C T 5: 102,031,949 (GRCm39) R2277Q possibly damaging Het
Wdr64 T G 1: 175,599,829 (GRCm39) M111R probably benign 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
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
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'- TTGGGGACATCCATTCAGCC -3'
(R):5'- CCATAGTGAGCGGGAACAAC -3'

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