Incidental Mutation 'IGL03231:Cdh22'
ID 413921
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 # IGL03231
Quality Score
Status
Chromosome 2
Chromosomal Location 164953427-165076773 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164958126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 614 (V614I)
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: V614I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: V614I

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
SMART Domains Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,046,094 (GRCm39) F277V probably damaging Het
Arel1 T A 12: 84,981,084 (GRCm39) T308S probably benign Het
Asic1 T A 15: 99,596,983 (GRCm39) H548Q probably benign Het
B3galt1 T C 2: 67,948,947 (GRCm39) Y221H probably damaging Het
Bltp2 A G 11: 78,159,528 (GRCm39) T526A probably benign Het
Brs3 G T X: 56,090,804 (GRCm39) C221F probably benign Het
Capn7 G A 14: 31,077,247 (GRCm39) G322R probably damaging Het
Ccdc138 T C 10: 58,409,528 (GRCm39) L619P probably damaging Het
Dnah5 C T 15: 28,311,294 (GRCm39) R1758W probably damaging Het
Dr1 T C 5: 108,423,474 (GRCm39) V87A probably benign Het
F830045P16Rik A G 2: 129,302,393 (GRCm39) S400P probably damaging Het
Fcgbpl1 A G 7: 27,853,147 (GRCm39) E1478G possibly damaging Het
Fyb2 T A 4: 104,843,460 (GRCm39) Y353* probably null Het
Gm28043 A G 17: 29,854,916 (GRCm39) D457G probably damaging Het
Gsap T C 5: 21,434,164 (GRCm39) V260A probably damaging Het
Kcnt2 A T 1: 140,461,740 (GRCm39) probably benign Het
Magee2 A T X: 103,899,944 (GRCm39) L236M probably damaging Het
Map4k3 A T 17: 80,905,104 (GRCm39) V729E probably damaging Het
Myh13 A G 11: 67,242,817 (GRCm39) E910G possibly damaging Het
Nbeal1 G T 1: 60,275,618 (GRCm39) A651S probably benign Het
Nhsl3 C T 4: 129,117,474 (GRCm39) V385I possibly damaging Het
Nuak2 A T 1: 132,255,915 (GRCm39) D188V probably damaging Het
Nup210l A G 3: 90,096,852 (GRCm39) T1354A probably damaging Het
Or10q1 A T 19: 13,726,749 (GRCm39) Q93L probably benign Het
Pof1b C T X: 111,554,987 (GRCm39) S506N possibly damaging Het
Prrt3 A G 6: 113,474,485 (GRCm39) S246P possibly damaging Het
Rps6ka6 T A X: 110,360,018 (GRCm39) T43S probably benign Het
Slc19a2 G T 1: 164,088,449 (GRCm39) W98L probably damaging Het
Snap29 C T 16: 17,244,964 (GRCm39) S195L probably benign Het
Stt3b C T 9: 115,073,062 (GRCm39) G815S unknown Het
Tm9sf2 T G 14: 122,378,664 (GRCm39) I256R possibly damaging Het
Tpbpb A T 13: 61,049,996 (GRCm39) N44K probably damaging Het
Trim13 A G 14: 61,842,994 (GRCm39) E337G probably benign Het
Trmt6 A T 2: 132,657,756 (GRCm39) D33E probably benign Het
Trpm6 T A 19: 18,796,545 (GRCm39) S800R probably benign Het
V1rd19 A G 7: 23,703,328 (GRCm39) I265V probably benign Het
Xkrx A G X: 133,051,391 (GRCm39) L420P probably damaging Het
Zfp618 T C 4: 63,012,716 (GRCm39) Y167H 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
IGL01932:Cdh22 APN 2 165,012,728 (GRCm39) missense probably benign 0.05
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
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 2016-08-02