Incidental Mutation 'IGL01932:Cdh22'
ID180455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh22
Ensembl Gene ENSMUSG00000053166
Gene Namecadherin 22
SynonymsPB-cadherin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL01932
Quality Score
Status
Chromosome2
Chromosomal Location165111507-165234853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 165170808 bp
ZygosityHeterozygous
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]
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
1110008L16Rik A G 12: 55,304,125 N73S probably benign Het
Adcy1 T A 11: 7,100,565 probably benign Het
Adipor2 G A 6: 119,361,864 H143Y probably damaging Het
Ankar A G 1: 72,698,987 I12T probably benign Het
Ankdd1a C T 9: 65,507,611 probably benign Het
Cadps A G 14: 12,373,609 probably benign Het
Col6a6 T A 9: 105,689,626 K2223N probably benign Het
Dnah11 G A 12: 118,192,270 probably benign Het
Ezh2 T C 6: 47,532,048 T674A probably damaging Het
Ffar4 A G 19: 38,097,530 E135G probably damaging Het
Fsip2 G A 2: 82,994,005 R6694Q possibly damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4222 A G 2: 90,148,457 probably benign Het
Hipk3 T A 2: 104,470,981 N289Y probably damaging Het
Kndc1 T C 7: 139,923,790 L1003P probably damaging Het
Mdk T C 2: 91,931,116 N72S probably damaging Het
Olfr520 T A 7: 99,735,500 I119N probably damaging Het
Olfr666 T A 7: 104,893,218 I137F probably damaging Het
Pafah1b3 A T 7: 25,297,091 C56S probably benign Het
Pdzrn4 A G 15: 92,746,278 I189V probably damaging Het
Plekhh2 A G 17: 84,577,261 N801S probably benign Het
Pramel7 A T 2: 87,491,113 S193T possibly damaging Het
Prkag1 A G 15: 98,814,531 I171T probably damaging Het
Rap1b A T 10: 117,822,860 F23I probably damaging Het
Scamp2 A G 9: 57,561,116 probably benign Het
Ttn A T 2: 76,884,474 probably benign Het
Vmn2r17 A T 5: 109,427,050 R74S probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wif1 G T 10: 121,096,035 C288F probably damaging Het
Other mutations in Cdh22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Cdh22 APN 2 165112601 missense possibly damaging 0.54
IGL01868:Cdh22 APN 2 165157358 missense probably damaging 0.99
IGL02268:Cdh22 APN 2 165123719 splice site probably benign
IGL02455:Cdh22 APN 2 165142255 missense possibly damaging 0.46
IGL03231:Cdh22 APN 2 165116206 missense probably benign 0.16
IGL03264:Cdh22 APN 2 165116173 missense probably benign 0.21
IGL03014:Cdh22 UTSW 2 165112411 nonsense probably null
R0712:Cdh22 UTSW 2 165170656 missense probably damaging 1.00
R0865:Cdh22 UTSW 2 165181056 missense probably damaging 0.98
R1192:Cdh22 UTSW 2 165135283 missense probably damaging 1.00
R1700:Cdh22 UTSW 2 165170796 missense probably damaging 1.00
R1844:Cdh22 UTSW 2 165143694 missense probably damaging 1.00
R2005:Cdh22 UTSW 2 165180923 missense probably damaging 1.00
R2137:Cdh22 UTSW 2 165116394 splice site probably benign
R2270:Cdh22 UTSW 2 165143847 splice site probably null
R2271:Cdh22 UTSW 2 165143847 splice site probably null
R2272:Cdh22 UTSW 2 165143847 splice site probably null
R4021:Cdh22 UTSW 2 165143673 missense possibly damaging 0.81
R4022:Cdh22 UTSW 2 165157253 missense probably benign 0.14
R4613:Cdh22 UTSW 2 165143656 missense probably benign
R4625:Cdh22 UTSW 2 165112606 missense probably damaging 1.00
R5038:Cdh22 UTSW 2 165142277 missense probably benign 0.16
R5057:Cdh22 UTSW 2 165116143 missense probably damaging 0.98
R5649:Cdh22 UTSW 2 165116280 missense probably damaging 1.00
R6175:Cdh22 UTSW 2 165146630 missense probably damaging 0.98
R6297:Cdh22 UTSW 2 165143644 missense possibly damaging 0.86
R6445:Cdh22 UTSW 2 165170692 missense probably damaging 0.97
R7294:Cdh22 UTSW 2 165142093 missense possibly damaging 0.94
R7310:Cdh22 UTSW 2 165112294 nonsense probably null
R7595:Cdh22 UTSW 2 165112463 missense probably benign 0.00
R7601:Cdh22 UTSW 2 165112546 missense probably damaging 1.00
R8047:Cdh22 UTSW 2 165170767 missense probably damaging 1.00
Z1088:Cdh22 UTSW 2 165112430 missense probably benign 0.01
Z1176:Cdh22 UTSW 2 165116184 missense probably damaging 1.00
Z1177:Cdh22 UTSW 2 165146680 missense probably damaging 1.00
Posted On2014-05-07