Incidental Mutation 'R5649:Cdh22'
ID 441306
Institutional Source Beutler Lab
Gene Symbol Cdh22
Ensembl Gene ENSMUSG00000053166
Gene Name cadherin 22
Synonyms PB-cadherin
MMRRC Submission 043170-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5649 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164953427-165076773 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 164958200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 589 (T589K)
Ref Sequence ENSEMBL: ENSMUSP00000066864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000138643]
AlphaFold Q9WTP5
Predicted Effect probably damaging
Transcript: ENSMUST00000065438
AA Change: T589K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: T589K

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,330,501 (GRCm39) T1385A probably damaging Het
Apc2 T A 10: 80,149,972 (GRCm39) D1646E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Atl3 C A 19: 7,509,592 (GRCm39) T435N possibly damaging Het
Cnot3 T C 7: 3,661,082 (GRCm39) L561S probably benign Het
Col5a1 A G 2: 27,841,468 (GRCm39) D363G unknown Het
Cyp24a1 T C 2: 170,338,229 (GRCm39) D105G possibly damaging Het
Dennd4a C A 9: 64,758,491 (GRCm39) probably null Het
Dnah8 A G 17: 31,019,561 (GRCm39) K3878R probably benign Het
Dock4 T C 12: 40,894,539 (GRCm39) S1900P probably benign Het
Fancg A G 4: 43,008,736 (GRCm39) L167P probably damaging Het
Ighd2-8 A G 12: 113,414,487 (GRCm39) S1P possibly damaging Het
Kif28 A G 1: 179,525,336 (GRCm39) probably null Het
Mrpl55 T A 11: 59,095,397 (GRCm39) C20* probably null Het
Myo5a A G 9: 75,079,001 (GRCm39) K920E possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Olfm3 A G 3: 114,890,573 (GRCm39) R76G probably damaging Het
Or14a258 T C 7: 86,035,521 (GRCm39) M116V probably damaging Het
Or2ag1 T C 7: 106,313,373 (GRCm39) R172G possibly damaging Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Phf11c T C 14: 59,622,981 (GRCm39) probably null Het
Phf20 T A 2: 156,093,688 (GRCm39) probably null Het
Plbd1 T A 6: 136,593,987 (GRCm39) Y376F probably benign Het
Poglut1 A G 16: 38,352,173 (GRCm39) V257A probably damaging Het
Reln A G 5: 22,106,623 (GRCm39) I3249T probably benign Het
Rgsl1 G A 1: 153,701,639 (GRCm39) P272S possibly damaging Het
Slc15a2 A T 16: 36,592,472 (GRCm39) Y197* probably null Het
Slc45a2 C T 15: 11,012,693 (GRCm39) T232I probably benign Het
Ssc5d T A 7: 4,929,517 (GRCm39) probably null Het
Thbs2 T C 17: 14,910,215 (GRCm39) Y128C probably damaging Het
Them4 A T 3: 94,238,851 (GRCm39) L219F possibly damaging Het
Tmem30b G T 12: 73,592,940 (GRCm39) N58K probably benign Het
Trappc2b T C 11: 51,576,799 (GRCm39) E33G probably benign Het
Ttc29 G A 8: 78,972,942 (GRCm39) E131K possibly damaging Het
Vmn1r29 C G 6: 58,284,676 (GRCm39) S132C probably benign Het
Vmn1r53 G A 6: 90,200,742 (GRCm39) A194V probably benign Het
Wdr86 A T 5: 24,923,085 (GRCm39) H202Q probably benign Het
Xirp2 A G 2: 67,347,239 (GRCm39) D3160G probably benign Het
Xkr5 T C 8: 18,983,982 (GRCm39) D520G probably benign Het
Zfp607b T G 7: 27,403,406 (GRCm39) C621G 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGTCTATCCAGGCAGAACACC -3'
(R):5'- CACACTGTCTGCTTCAAGATG -3'

Sequencing Primer
(F):5'- TATCCAGGCAGAACACCAAGTCATG -3'
(R):5'- ACACTGTCTGCTTCAAGATGGGATC -3'
Posted On 2016-11-08