Incidental Mutation 'R2272:Cdh22'
ID 242537
Institutional Source Beutler Lab
Gene Symbol Cdh22
Ensembl Gene ENSMUSG00000053166
Gene Name cadherin 22
Synonyms PB-cadherin
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164953427-165076773 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 164985767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065438] [ENSMUST00000065438] [ENSMUST00000065438] [ENSMUST00000138643] [ENSMUST00000138643]
AlphaFold Q9WTP5
Predicted Effect probably null
Transcript: ENSMUST00000065438
SMART Domains Protein: ENSMUSP00000066864
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
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 null
Transcript: ENSMUST00000065438
SMART Domains Protein: ENSMUSP00000066864
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
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 null
Transcript: ENSMUST00000065438
SMART Domains Protein: ENSMUSP00000066864
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
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
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L 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
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
Predicted Primers PCR Primer
(F):5'- CACCACTATGATGGCTTCCTG -3'
(R):5'- TGCATGATCCTGCCCTTCAG -3'

Sequencing Primer
(F):5'- CACTATGATGGCTTCCTGAGTGTC -3'
(R):5'- CCTTCAGAGGGCAGGGC -3'
Posted On 2014-10-16