Incidental Mutation 'IGL02455:Cdh22'
ID293809
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: 0.194) question?
Stock #IGL02455
Quality Score
Status
Chromosome2
Chromosomal Location165111507-165234853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 165142255 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 359 (N359S)
Ref Sequence ENSEMBL: ENSMUSP00000066864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000138643]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065438
AA Change: N359S

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: N359S

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: N359S

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166
AA Change: N359S

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 35,960,129 V479A probably damaging Het
Adam18 T C 8: 24,651,848 D235G probably damaging Het
Cebpz G T 17: 78,935,036 N396K probably benign Het
Celsr3 T A 9: 108,842,893 W2493R probably benign Het
Clca2 C T 3: 145,081,411 V500M probably benign Het
Clec4a4 A C 6: 123,013,780 N160H possibly damaging Het
Crb2 T C 2: 37,794,564 S1139P possibly damaging Het
Dnah8 T C 17: 30,672,334 I771T probably damaging Het
Etfbkmt C T 6: 149,147,226 A121V probably damaging Het
Fat4 T A 3: 38,951,131 L1893Q possibly damaging Het
Fbxw13 A T 9: 109,183,187 S188T probably benign Het
Fign T C 2: 63,980,497 D143G probably benign Het
Foxj3 C A 4: 119,620,237 H381N unknown Het
Gpr158 A T 2: 21,368,700 T149S probably benign Het
Ift74 C T 4: 94,635,831 Q195* probably null Het
Kif2c C A 4: 117,172,354 M143I probably benign Het
Kmt2b A G 7: 30,578,878 probably null Het
Krt84 C T 15: 101,525,735 R599H unknown Het
Ly6g6f C T 17: 35,082,890 R196H possibly damaging Het
Map4 C A 9: 109,999,833 N95K probably benign Het
Mrgprx3-ps T A 7: 47,309,515 noncoding transcript Het
Mroh9 T C 1: 163,075,580 M85V probably benign Het
Npffr2 T C 5: 89,568,135 I107T probably damaging Het
Nrcam T C 12: 44,570,530 V737A probably damaging Het
Olfr1141 A T 2: 87,753,583 S137T possibly damaging Het
Olfr851 C T 9: 19,497,263 Q172* probably null Het
Olfr976 T C 9: 39,956,902 E11G probably damaging Het
Oprm1 A G 10: 6,830,219 T294A probably damaging Het
Parvg A G 15: 84,330,082 R156G possibly damaging Het
Pclo T C 5: 14,540,175 S830P unknown Het
Pde11a T C 2: 76,158,393 D468G possibly damaging Het
Peak1 A T 9: 56,227,473 S195T possibly damaging Het
Pkhd1 A G 1: 20,364,201 Y2338H probably damaging Het
Ppp1r1b A T 11: 98,350,569 I28F probably damaging Het
Prpf8 A G 11: 75,509,258 Y2326C probably benign Het
Psmd1 T A 1: 86,078,580 L223I probably damaging Het
Runx3 T A 4: 135,175,530 Y310N probably damaging Het
Secisbp2l C T 2: 125,773,478 D76N possibly damaging Het
Slfn4 A T 11: 83,186,758 N124I probably damaging Het
Spata13 G A 14: 60,706,714 V519I probably benign Het
Ssh3 C T 19: 4,264,432 E365K probably damaging Het
Strc A G 2: 121,375,791 probably benign Het
Tdp2 T A 13: 24,841,262 I338N probably damaging Het
Vmn1r13 A T 6: 57,210,472 R205S probably damaging Het
Wdr19 G T 5: 65,224,759 A441S probably benign Het
Ylpm1 A G 12: 85,030,263 D796G probably damaging Het
Zbtb11 T C 16: 56,000,675 S712P probably damaging Het
Zcchc14 A G 8: 121,606,270 probably benign Het
Zfp608 T G 18: 54,899,333 S512R 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
IGL01932:Cdh22 APN 2 165170808 missense probably benign 0.05
IGL02268:Cdh22 APN 2 165123719 splice site probably benign
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 On2015-04-16