Incidental Mutation 'IGL03365:Pcdh11x'
ID420029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh11x
Ensembl Gene ENSMUSG00000034755
Gene Nameprotocadherin 11 X-linked
SynonymsA230092L07Rik, PCDHX
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL03365
Quality Score
Status
ChromosomeX
Chromosomal Location120290259-120910619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120516238 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1019 (D1019E)
Ref Sequence ENSEMBL: ENSMUSP00000052340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050239] [ENSMUST00000113358] [ENSMUST00000113364] [ENSMUST00000155223] [ENSMUST00000191653] [ENSMUST00000192677] [ENSMUST00000195088]
Predicted Effect probably benign
Transcript: ENSMUST00000050239
AA Change: D1019E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052340
Gene: ENSMUSG00000034755
AA Change: D1019E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 52 137 8.24e-1 SMART
CA 161 247 2.22e-17 SMART
CA 271 353 2.04e-25 SMART
CA 383 464 1.18e-12 SMART
CA 488 568 2.38e-26 SMART
CA 592 671 7.09e-25 SMART
CA 698 780 5.92e-4 SMART
low complexity region 978 996 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113358
SMART Domains Protein: ENSMUSP00000108985
Gene: ENSMUSG00000034755

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 52 137 8.24e-1 SMART
CA 161 247 2.22e-17 SMART
CA 271 353 2.04e-25 SMART
CA 383 464 1.18e-12 SMART
CA 488 568 2.38e-26 SMART
CA 592 671 7.09e-25 SMART
CA 698 780 5.92e-4 SMART
low complexity region 978 996 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113364
SMART Domains Protein: ENSMUSP00000108991
Gene: ENSMUSG00000034755

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 52 137 8.24e-1 SMART
CA 161 247 2.22e-17 SMART
CA 271 353 2.04e-25 SMART
CA 383 464 1.18e-12 SMART
CA 488 568 2.38e-26 SMART
CA 592 671 7.09e-25 SMART
CA 698 780 5.92e-4 SMART
transmembrane domain 813 835 N/A INTRINSIC
low complexity region 978 996 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155223
SMART Domains Protein: ENSMUSP00000138407
Gene: ENSMUSG00000034755

DomainStartEndE-ValueType
Pfam:Protocadherin 1 168 8.9e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191653
SMART Domains Protein: ENSMUSP00000141600
Gene: ENSMUSG00000034755

DomainStartEndE-ValueType
Pfam:Protocadherin 1 168 2.1e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192677
SMART Domains Protein: ENSMUSP00000141522
Gene: ENSMUSG00000034755

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 52 137 4e-3 SMART
CA 161 247 1.1e-19 SMART
CA 271 353 1e-27 SMART
CA 383 464 5.7e-15 SMART
CA 488 568 1.2e-28 SMART
CA 592 671 3.4e-27 SMART
CA 698 780 2.9e-6 SMART
low complexity region 978 996 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195088
SMART Domains Protein: ENSMUSP00000142050
Gene: ENSMUSG00000034755

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 52 137 8.24e-1 SMART
CA 161 247 2.22e-17 SMART
CA 271 353 2.04e-25 SMART
CA 383 464 1.18e-12 SMART
CA 488 568 2.38e-26 SMART
CA 592 671 7.09e-25 SMART
CA 698 780 5.92e-4 SMART
transmembrane domain 813 835 N/A INTRINSIC
low complexity region 978 996 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. The encoded protein may mediate cell-cell adhesion in neuronal tissues in the presence of calcium. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Pcdh11x
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Pcdh11x APN X 120592568 missense probably benign 0.11
IGL01109:Pcdh11x APN X 120400914 missense possibly damaging 0.65
IGL01413:Pcdh11x APN X 120399585 missense probably benign 0.04
IGL02458:Pcdh11x APN X 120400618 missense possibly damaging 0.52
IGL03256:Pcdh11x APN X 120400910 missense probably benign 0.16
R4795:Pcdh11x UTSW X 120400240 missense probably damaging 1.00
Posted On2016-08-02