Incidental Mutation 'IGL01932:Cdh22'
ID 180455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh22
Ensembl Gene ENSMUSG00000053166
Gene Name cadherin 22
Synonyms PB-cadherin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL01932
Quality Score
Status
Chromosome 2
Chromosomal Location 164953427-165076773 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 165012728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 119 (T119M)
Ref Sequence ENSEMBL: ENSMUSP00000066864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000138643]
AlphaFold Q9WTP5
Predicted Effect probably benign
Transcript: ENSMUST00000065438
AA Change: T119M

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: T119M

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
CA 82 163 2.19e-16 SMART
CA 187 272 3.11e-30 SMART
CA 296 390 4.88e-14 SMART
CA 413 494 2.27e-23 SMART
CA 517 604 4.52e-9 SMART
transmembrane domain 622 644 N/A INTRINSIC
Pfam:Cadherin_C 647 803 4.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138643
AA Change: T119M

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166
AA Change: T119M

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
CA 82 163 2.19e-16 SMART
CA 187 272 3.11e-30 SMART
CA 296 390 4.88e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,050,565 (GRCm39) probably benign Het
Adipor2 G A 6: 119,338,825 (GRCm39) H143Y probably damaging Het
Ankar A G 1: 72,738,146 (GRCm39) I12T probably benign Het
Ankdd1a C T 9: 65,414,893 (GRCm39) probably benign Het
Cadps A G 14: 12,373,609 (GRCm38) probably benign Het
Col6a6 T A 9: 105,566,825 (GRCm39) K2223N probably benign Het
Dnah11 G A 12: 118,156,005 (GRCm39) probably benign Het
Ezh2 T C 6: 47,508,982 (GRCm39) T674A probably damaging Het
Ffar4 A G 19: 38,085,978 (GRCm39) E135G probably damaging Het
Fsip2 G A 2: 82,824,349 (GRCm39) R6694Q possibly damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm4222 A G 2: 89,978,801 (GRCm39) probably benign Het
Hipk3 T A 2: 104,301,326 (GRCm39) N289Y probably damaging Het
Kndc1 T C 7: 139,503,705 (GRCm39) L1003P probably damaging Het
Mdk T C 2: 91,761,461 (GRCm39) N72S probably damaging Het
Or2at4 T A 7: 99,384,707 (GRCm39) I119N probably damaging Het
Or52n2 T A 7: 104,542,425 (GRCm39) I137F probably damaging Het
Pafah1b3 A T 7: 24,996,516 (GRCm39) C56S probably benign Het
Pdzrn4 A G 15: 92,644,159 (GRCm39) I189V probably damaging Het
Plekhh2 A G 17: 84,884,689 (GRCm39) N801S probably benign Het
Pramel7 A T 2: 87,321,457 (GRCm39) S193T possibly damaging Het
Prkag1 A G 15: 98,712,412 (GRCm39) I171T probably damaging Het
Prorp A G 12: 55,350,910 (GRCm39) N73S probably benign Het
Rap1b A T 10: 117,658,765 (GRCm39) F23I probably damaging Het
Scamp2 A G 9: 57,468,399 (GRCm39) probably benign Het
Ttn A T 2: 76,714,818 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r17 A T 5: 109,574,916 (GRCm39) R74S probably benign Het
Wif1 G T 10: 120,931,940 (GRCm39) C288F probably damaging Het
Other mutations in Cdh22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Cdh22 APN 2 164,954,521 (GRCm39) missense possibly damaging 0.54
IGL01868:Cdh22 APN 2 164,999,278 (GRCm39) missense probably damaging 0.99
IGL02268:Cdh22 APN 2 164,965,639 (GRCm39) splice site probably benign
IGL02455:Cdh22 APN 2 164,984,175 (GRCm39) missense possibly damaging 0.46
IGL03231:Cdh22 APN 2 164,958,126 (GRCm39) missense probably benign 0.16
IGL03264:Cdh22 APN 2 164,958,093 (GRCm39) missense probably benign 0.21
IGL03014:Cdh22 UTSW 2 164,954,331 (GRCm39) nonsense probably null
R0712:Cdh22 UTSW 2 165,012,576 (GRCm39) missense probably damaging 1.00
R0865:Cdh22 UTSW 2 165,022,976 (GRCm39) missense probably damaging 0.98
R1192:Cdh22 UTSW 2 164,977,203 (GRCm39) missense probably damaging 1.00
R1700:Cdh22 UTSW 2 165,012,716 (GRCm39) missense probably damaging 1.00
R1844:Cdh22 UTSW 2 164,985,614 (GRCm39) missense probably damaging 1.00
R2005:Cdh22 UTSW 2 165,022,843 (GRCm39) missense probably damaging 1.00
R2137:Cdh22 UTSW 2 164,958,314 (GRCm39) splice site probably benign
R2270:Cdh22 UTSW 2 164,985,767 (GRCm39) splice site probably null
R2271:Cdh22 UTSW 2 164,985,767 (GRCm39) splice site probably null
R2272:Cdh22 UTSW 2 164,985,767 (GRCm39) splice site probably null
R4021:Cdh22 UTSW 2 164,985,593 (GRCm39) missense possibly damaging 0.81
R4022:Cdh22 UTSW 2 164,999,173 (GRCm39) missense probably benign 0.14
R4613:Cdh22 UTSW 2 164,985,576 (GRCm39) missense probably benign
R4625:Cdh22 UTSW 2 164,954,526 (GRCm39) missense probably damaging 1.00
R5038:Cdh22 UTSW 2 164,984,197 (GRCm39) missense probably benign 0.16
R5057:Cdh22 UTSW 2 164,958,063 (GRCm39) missense probably damaging 0.98
R5649:Cdh22 UTSW 2 164,958,200 (GRCm39) missense probably damaging 1.00
R6175:Cdh22 UTSW 2 164,988,550 (GRCm39) missense probably damaging 0.98
R6297:Cdh22 UTSW 2 164,985,564 (GRCm39) missense possibly damaging 0.86
R6445:Cdh22 UTSW 2 165,012,612 (GRCm39) missense probably damaging 0.97
R7294:Cdh22 UTSW 2 164,984,013 (GRCm39) missense possibly damaging 0.94
R7310:Cdh22 UTSW 2 164,954,214 (GRCm39) nonsense probably null
R7595:Cdh22 UTSW 2 164,954,383 (GRCm39) missense probably benign 0.00
R7601:Cdh22 UTSW 2 164,954,466 (GRCm39) missense probably damaging 1.00
R8047:Cdh22 UTSW 2 165,012,687 (GRCm39) missense probably damaging 1.00
R8308:Cdh22 UTSW 2 164,954,098 (GRCm39) missense probably damaging 0.99
R8480:Cdh22 UTSW 2 164,988,646 (GRCm39) missense probably benign
R8526:Cdh22 UTSW 2 164,954,178 (GRCm39) missense probably damaging 1.00
R8771:Cdh22 UTSW 2 164,988,689 (GRCm39) missense possibly damaging 0.94
R8927:Cdh22 UTSW 2 164,965,504 (GRCm39) missense possibly damaging 0.58
R8928:Cdh22 UTSW 2 164,965,504 (GRCm39) missense possibly damaging 0.58
R9158:Cdh22 UTSW 2 165,012,627 (GRCm39) missense probably damaging 1.00
R9433:Cdh22 UTSW 2 164,954,329 (GRCm39) missense probably benign 0.32
R9498:Cdh22 UTSW 2 164,954,490 (GRCm39) missense probably damaging 1.00
R9638:Cdh22 UTSW 2 164,988,687 (GRCm39) missense probably damaging 0.97
R9657:Cdh22 UTSW 2 164,965,715 (GRCm39) missense probably benign 0.01
Z1088:Cdh22 UTSW 2 164,954,350 (GRCm39) missense probably benign 0.01
Z1176:Cdh22 UTSW 2 164,958,104 (GRCm39) missense probably damaging 1.00
Z1177:Cdh22 UTSW 2 164,988,600 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07