Incidental Mutation 'IGL03264:Cdh22'
ID415019
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 #IGL03264
Quality Score
Status
Chromosome2
Chromosomal Location165111507-165234853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 165116173 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 625 (I625V)
Ref Sequence ENSEMBL: ENSMUSP00000066864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000138643]
Predicted Effect probably benign
Transcript: ENSMUST00000065438
AA Change: I625V

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: I625V

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
4932438A13Rik A T 3: 37,002,635 I3152F probably damaging Het
9130019O22Rik A G 7: 127,385,639 probably benign Het
Abcg1 T G 17: 31,064,454 S38A probably benign Het
Alkbh1 T G 12: 87,431,427 D238A probably damaging Het
Arhgef17 A T 7: 100,880,013 D1531E probably benign Het
Cacng3 G T 7: 122,671,957 G62W probably damaging Het
Ces5a T C 8: 93,502,270 N444S possibly damaging Het
Chst13 A T 6: 90,309,211 Y256* probably null Het
Clcn5 T A X: 7,178,374 H177L probably benign Het
Dars G A 1: 128,413,690 R63C probably damaging Het
Dcun1d4 A G 5: 73,520,229 S84G probably benign Het
Dcxr T C 11: 120,726,472 N82D probably damaging Het
Eef1a2 C A 2: 181,148,734 K376N possibly damaging Het
Efhc1 G A 1: 20,967,491 M297I probably benign Het
Etfb G T 7: 43,452,473 V64F probably damaging Het
Fam135b A C 15: 71,462,788 N852K probably benign Het
Gigyf2 T C 1: 87,449,068 probably benign Het
Gm12794 A T 4: 101,941,132 Q100L probably damaging Het
Gria4 T C 9: 4,513,288 K274E probably benign Het
Itgae A G 11: 73,115,574 E356G possibly damaging Het
Med12l C T 3: 59,301,367 Q2139* probably null Het
Mrvi1 A T 7: 110,926,346 S200T probably benign Het
Plxna4 A G 6: 32,178,402 F1536L possibly damaging Het
Rmnd5a A G 6: 71,393,135 I389T probably damaging Het
Rnf128 T G X: 139,611,236 V144G probably damaging Het
Rpgrip1 A G 14: 52,140,652 T486A possibly damaging Het
Rps6kc1 T C 1: 190,871,829 T199A probably benign Het
Skint5 T A 4: 113,486,657 D1338V unknown Het
Slc35g2 A T 9: 100,552,646 I324K possibly damaging Het
Slc4a5 G A 6: 83,261,525 R225H probably damaging Het
Srgap3 A T 6: 112,816,675 H113Q probably damaging Het
Stpg2 A C 3: 139,309,209 K378N possibly damaging Het
Svep1 A G 4: 58,066,422 probably benign Het
Utp11 T C 4: 124,679,728 K218E probably damaging Het
Vmn2r53 T A 7: 12,581,892 I667F possibly damaging Het
Wdfy3 A G 5: 101,900,150 L1763P probably damaging Het
Wnt2 A G 6: 17,989,960 Y313H probably benign Het
Zfp638 T C 6: 83,946,247 S676P probably benign 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
IGL02455:Cdh22 APN 2 165142255 missense possibly damaging 0.46
IGL03231:Cdh22 APN 2 165116206 missense probably benign 0.16
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 On2016-08-02