Incidental Mutation 'R7143:Pcdh9'
ID 553574
Institutional Source Beutler Lab
Gene Symbol Pcdh9
Ensembl Gene ENSMUSG00000055421
Gene Name protocadherin 9
Synonyms C630029H24Rik, LOC382930, A730003J17Rik, 1500001L12Rik, C530050I23Rik
MMRRC Submission 045222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R7143 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 93250846-94128115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94125708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 154 (N154S)
Ref Sequence ENSEMBL: ENSMUSP00000070935 (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: N154S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: N154S

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: N31S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: N31S

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 probably damaging
Transcript: ENSMUST00000193901
AA Change: N154S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: N154S

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: N154S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141602
Gene: ENSMUSG00000055421
AA Change: N154S

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: N154S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: N154S

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: N154S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: N154S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik C T 7: 103,708,422 (GRCm39) C129Y probably damaging Het
Agbl4 A G 4: 111,474,333 (GRCm39) N374S probably damaging Het
Agl A G 3: 116,585,670 (GRCm39) S153P probably damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Ankrd17 C A 5: 90,433,820 (GRCm39) A650S possibly damaging Het
Ankrd53 A G 6: 83,739,893 (GRCm39) R16G possibly damaging Het
Apba2 T C 7: 64,394,165 (GRCm39) L570P probably damaging Het
Asap1 A G 15: 64,063,377 (GRCm39) F101L probably damaging Het
Cadm4 T A 7: 24,198,992 (GRCm39) I89N possibly damaging Het
Cadps C T 14: 12,491,838 (GRCm38) V771I probably benign Het
Cenph A G 13: 100,898,285 (GRCm39) V206A possibly damaging Het
Cenpn A G 8: 117,663,966 (GRCm39) T253A probably benign Het
Cep120 C T 18: 53,816,457 (GRCm39) G939R probably benign Het
Cfap57 G A 4: 118,477,906 (GRCm39) probably benign Het
Clip1 T C 5: 123,791,673 (GRCm39) I166V probably benign Het
Cstf3 T A 2: 104,476,961 (GRCm39) V144E probably benign Het
Cyp21a1 T A 17: 35,021,300 (GRCm39) H357L probably damaging Het
Cyth3 T A 5: 143,670,151 (GRCm39) V12E unknown Het
Dgat2 T C 7: 98,806,331 (GRCm39) I289V probably benign Het
Dip2a A G 10: 76,133,625 (GRCm39) C527R probably damaging Het
Dnah17 A C 11: 117,976,956 (GRCm39) W1879G probably damaging Het
Dnai2 A G 11: 114,645,076 (GRCm39) T504A possibly damaging Het
Efl1 C T 7: 82,411,888 (GRCm39) P759L probably damaging Het
Egfr A C 11: 16,821,627 (GRCm39) I351L probably benign Het
Ercc6 G A 14: 32,292,262 (GRCm39) E1209K probably damaging Het
Fam135b A T 15: 71,351,000 (GRCm39) M292K probably benign Het
Fbxl7 C A 15: 26,543,244 (GRCm39) V468L probably benign Het
Fhl2 G T 1: 43,181,011 (GRCm39) H60N probably damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Gata4 C A 14: 63,442,066 (GRCm39) R252L probably damaging Het
Glt8d1 T A 14: 30,728,602 (GRCm39) I10N probably damaging Het
Gm10803 T A 2: 93,394,304 (GRCm39) Y25* probably null Het
Gm19345 T C 7: 19,591,759 (GRCm39) F108S unknown Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Gprc6a C T 10: 51,490,986 (GRCm39) R921H probably benign Het
Hc A T 2: 34,940,450 (GRCm39) H129Q probably benign Het
Heatr5a T C 12: 52,008,251 (GRCm39) R31G probably benign Het
Hephl1 T C 9: 14,972,106 (GRCm39) K945E possibly damaging Het
Ik G T 18: 36,884,230 (GRCm39) M237I probably damaging Het
Izumo1 T A 7: 45,276,519 (GRCm39) S361T probably benign Het
Kcnq4 A G 4: 120,568,436 (GRCm39) F427L probably benign Het
Kifap3 T A 1: 163,683,609 (GRCm39) M430K possibly damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Lamb3 A G 1: 192,986,873 (GRCm39) E53G probably damaging Het
Lrp1b A T 2: 41,202,655 (GRCm39) I1266K Het
Nat8 A T 6: 85,807,485 (GRCm39) I216K probably benign Het
Ncapd2 T C 6: 125,156,524 (GRCm39) I454V probably benign Het
Nlrp4f A T 13: 65,343,120 (GRCm39) V153E probably damaging Het
Nlrp4f G C 13: 65,347,166 (GRCm39) Q9E possibly damaging Het
Npy2r A T 3: 82,448,250 (GRCm39) I175N probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or1l4b A G 2: 37,036,886 (GRCm39) T221A probably benign Het
Or4a74 T C 2: 89,440,363 (GRCm39) M28V probably benign Het
Or52n3 C T 7: 104,530,393 (GRCm39) P160S probably damaging Het
Pcdhb2 A T 18: 37,428,934 (GRCm39) E302D probably benign Het
Pclo T A 5: 14,908,836 (GRCm39) V5048E unknown Het
Pcnt A G 10: 76,224,894 (GRCm39) L1870S possibly damaging Het
Pigc T C 1: 161,798,161 (GRCm39) Y48H probably damaging Het
Pisd C T 5: 32,895,846 (GRCm39) V241I possibly damaging Het
Pkhd1l1 A T 15: 44,437,033 (GRCm39) M3464L possibly damaging Het
Pofut2 T A 10: 77,095,260 (GRCm39) I35N probably benign Het
Prss27 A G 17: 24,264,632 (GRCm39) Y265C probably damaging Het
Prss56 T A 1: 87,115,875 (GRCm39) I583K probably benign Het
Rnpep T C 1: 135,211,487 (GRCm39) E87G probably benign Het
Shtn1 T C 19: 59,007,338 (GRCm39) H304R probably damaging Het
Slc23a4 A T 6: 34,955,848 (GRCm39) I62N probably damaging Het
Slc35e2 A T 4: 155,703,051 (GRCm39) I355F probably benign Het
Snx25 T C 8: 46,488,752 (GRCm39) I868V possibly damaging Het
Spatc1l T A 10: 76,405,765 (GRCm39) L323Q probably damaging Het
Speer4a2 T A 5: 26,290,674 (GRCm39) I166F probably benign Het
Taok1 A G 11: 77,428,814 (GRCm39) V962A probably benign Het
Tas2r140 A G 6: 133,032,482 (GRCm39) I92T probably benign Het
Trim17 C A 11: 58,856,010 (GRCm39) Y22* probably null Het
Tti1 T A 2: 157,849,596 (GRCm39) M548L probably benign Het
Unc93b1 T C 19: 3,985,204 (GRCm39) V4A unknown Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r225 A T 17: 20,722,646 (GRCm39) Y29F probably benign Het
Vmn1r34 A T 6: 66,614,648 (GRCm39) I30N probably benign Het
Vmn2r67 T A 7: 84,801,846 (GRCm39) M152L probably benign Het
Wdr20rt T G 12: 65,272,692 (GRCm39) F52V probably benign Het
Zfp869 G T 8: 70,159,306 (GRCm39) H422Q 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
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
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'- GGAGAATAGCTGTGCTCGATTTC -3'
(R):5'- GAGAGAAACTCTGTGCTGGG -3'

Sequencing Primer
(F):5'- GATTTCTGTGGCGTGCCCC -3'
(R):5'- AACTCTGTGCTGGGGCTTCATAC -3'
Posted On 2019-05-15