Incidental Mutation 'IGL02441:Cdhr4'
ID 293986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdhr4
Ensembl Gene ENSMUSG00000032595
Gene Name cadherin-related family member 4
Synonyms D330022A01Rik, 1700021K14Rik, Cdh29
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL02441
Quality Score
Status
Chromosome 9
Chromosomal Location 107869696-107876883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107870466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 123 (I123N)
Ref Sequence ENSEMBL: ENSMUSP00000135184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175759] [ENSMUST00000177173] [ENSMUST00000176373] [ENSMUST00000176356] [ENSMUST00000176306] [ENSMUST00000177368] [ENSMUST00000177508]
AlphaFold H3BJZ2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000035215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175729
Predicted Effect probably benign
Transcript: ENSMUST00000175759
SMART Domains Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595

DomainStartEndE-ValueType
Blast:CA 3 104 4e-44 BLAST
SCOP:d1l3wa3 59 104 4e-7 SMART
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175802
SMART Domains Protein: ENSMUSP00000135003
Gene: ENSMUSG00000032595

DomainStartEndE-ValueType
CA 33 116 5.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176382
Predicted Effect possibly damaging
Transcript: ENSMUST00000177173
AA Change: I123N

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: I123N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 80 91 N/A INTRINSIC
Blast:CA 149 224 2e-9 BLAST
Blast:CA 252 330 3e-33 BLAST
CA 354 437 2.24e-1 SMART
CA 459 542 5.86e-17 SMART
Blast:CA 566 649 3e-40 BLAST
transmembrane domain 680 702 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176196
Predicted Effect probably benign
Transcript: ENSMUST00000176459
Predicted Effect probably benign
Transcript: ENSMUST00000176334
Predicted Effect probably benign
Transcript: ENSMUST00000176373
SMART Domains Protein: ENSMUSP00000134896
Gene: ENSMUSG00000032595

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176356
Predicted Effect probably benign
Transcript: ENSMUST00000176306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177516
Predicted Effect probably benign
Transcript: ENSMUST00000177368
SMART Domains Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

DomainStartEndE-ValueType
Blast:UBA_e1_C 1 39 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177508
SMART Domains Protein: ENSMUSP00000135332
Gene: ENSMUSG00000032595

DomainStartEndE-ValueType
Blast:CA 1 29 4e-7 BLAST
transmembrane domain 60 82 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,029,504 (GRCm39) R179C probably benign Het
Als2 A G 1: 59,254,631 (GRCm39) M242T probably damaging Het
Atad1 C T 19: 32,684,348 (GRCm39) V17I probably benign Het
Bag4 A G 8: 26,258,136 (GRCm39) V397A probably damaging Het
Brd7 A G 8: 89,070,218 (GRCm39) V396A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep68 A G 11: 20,189,186 (GRCm39) F609L probably benign Het
Clec3b C A 9: 122,980,178 (GRCm39) P24T possibly damaging Het
Ctsg T A 14: 56,339,869 (GRCm39) T9S probably benign Het
Dalrd3 A T 9: 108,448,725 (GRCm39) probably benign Het
Dock6 A T 9: 21,753,222 (GRCm39) V286E possibly damaging Het
Dpep2 G A 8: 106,711,723 (GRCm39) A568V probably benign Het
Dph5 A C 3: 115,720,390 (GRCm39) Q192P possibly damaging Het
Eppin T A 2: 164,433,698 (GRCm39) R37* probably null Het
Esyt1 A G 10: 128,348,293 (GRCm39) L865P possibly damaging Het
Exoc6b A G 6: 84,981,990 (GRCm39) L102P probably damaging Het
Foxo6 A G 4: 120,125,232 (GRCm39) I521T possibly damaging Het
Guca1a A T 17: 47,705,578 (GRCm39) probably benign Het
Hpx A G 7: 105,241,430 (GRCm39) F327S probably damaging Het
Hspa12b A G 2: 130,980,515 (GRCm39) M145V probably null Het
Hspa4 A T 11: 53,161,809 (GRCm39) S448T probably benign Het
Kbtbd6 T C 14: 79,690,759 (GRCm39) Y422H probably benign Het
Lama4 A T 10: 38,937,441 (GRCm39) D677V probably benign Het
Ldb1 C T 19: 46,024,195 (GRCm39) E111K probably damaging Het
Macf1 A G 4: 123,281,029 (GRCm39) S3823P probably damaging Het
Man1a2 G A 3: 100,499,189 (GRCm39) T415I probably benign Het
Map3k2 T C 18: 32,333,099 (GRCm39) probably benign Het
Morn5 T A 2: 35,945,038 (GRCm39) Y87* probably null Het
Mpp3 T C 11: 101,900,501 (GRCm39) D326G probably benign Het
Mrgprx1 T C 7: 47,671,336 (GRCm39) H137R probably benign Het
Nav2 C A 7: 49,102,260 (GRCm39) P292T probably damaging Het
Nlrp2 C A 7: 5,338,566 (GRCm39) probably null Het
Noxo1 G A 17: 24,918,030 (GRCm39) S112N probably damaging Het
Nudt9 G T 5: 104,212,885 (GRCm39) K319N probably benign Het
Or8b38 A T 9: 37,973,233 (GRCm39) I206L probably benign Het
Osbpl7 C A 11: 96,958,528 (GRCm39) Q728K probably damaging Het
Pcsk1 A T 13: 75,280,282 (GRCm39) E702D probably benign Het
Piezo2 T C 18: 63,205,933 (GRCm39) D1492G probably damaging Het
Plekhg1 A G 10: 3,908,103 (GRCm39) K1007E possibly damaging Het
Ppp6r3 G A 19: 3,514,693 (GRCm39) P141S probably benign Het
Prrt3 T C 6: 113,473,977 (GRCm39) T354A probably damaging Het
Ptk2 C A 15: 73,192,675 (GRCm39) W181L probably benign Het
Rif1 T A 2: 51,995,527 (GRCm39) H915Q probably benign Het
Selenbp2 G T 3: 94,611,371 (GRCm39) V361L probably benign Het
Slamf7 A G 1: 171,468,625 (GRCm39) L89P probably damaging Het
Slc6a21 G A 7: 44,937,505 (GRCm39) V599M probably damaging Het
Sltm G T 9: 70,494,467 (GRCm39) S921I probably damaging Het
Smc4 C A 3: 68,913,544 (GRCm39) A44E probably damaging Het
Tdrd5 A T 1: 156,087,513 (GRCm39) probably benign Het
Tead2 T A 7: 44,866,845 (GRCm39) I68N probably damaging Het
Tnks1bp1 T A 2: 84,902,143 (GRCm39) S1680T probably damaging Het
Topbp1 T C 9: 103,197,438 (GRCm39) V386A possibly damaging Het
Tpx2 C A 2: 152,724,207 (GRCm39) P328T possibly damaging Het
Ttn T A 2: 76,576,332 (GRCm39) I24854F probably damaging Het
Zbtb11 G A 16: 55,794,552 (GRCm39) R43H possibly damaging Het
Zfp609 A G 9: 65,610,611 (GRCm39) L784S possibly damaging Het
Zfp703 T C 8: 27,470,036 (GRCm39) S567P probably damaging Het
Zfp750 A G 11: 121,404,455 (GRCm39) I140T probably benign Het
Other mutations in Cdhr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Cdhr4 APN 9 107,876,744 (GRCm39) missense probably damaging 1.00
IGL01105:Cdhr4 APN 9 107,873,060 (GRCm39) unclassified probably benign
IGL02097:Cdhr4 APN 9 107,870,199 (GRCm39) missense probably benign 0.17
IGL02635:Cdhr4 APN 9 107,870,070 (GRCm39) missense probably benign 0.04
IGL02870:Cdhr4 APN 9 107,875,263 (GRCm39) critical splice donor site probably null
IGL03160:Cdhr4 APN 9 107,873,068 (GRCm39) missense probably benign 0.05
IGL03162:Cdhr4 APN 9 107,875,210 (GRCm39) missense probably damaging 1.00
IGL03250:Cdhr4 APN 9 107,873,858 (GRCm39) missense probably damaging 0.99
R0233:Cdhr4 UTSW 9 107,874,133 (GRCm39) missense probably benign 0.25
R0233:Cdhr4 UTSW 9 107,874,133 (GRCm39) missense probably benign 0.25
R1241:Cdhr4 UTSW 9 107,872,495 (GRCm39) missense probably benign 0.00
R1250:Cdhr4 UTSW 9 107,874,715 (GRCm39) missense probably damaging 1.00
R2102:Cdhr4 UTSW 9 107,875,206 (GRCm39) missense probably damaging 1.00
R2104:Cdhr4 UTSW 9 107,873,460 (GRCm39) missense probably damaging 0.97
R2106:Cdhr4 UTSW 9 107,874,693 (GRCm39) missense possibly damaging 0.75
R2108:Cdhr4 UTSW 9 107,874,843 (GRCm39) missense probably damaging 1.00
R2171:Cdhr4 UTSW 9 107,870,117 (GRCm39) missense probably benign 0.00
R2312:Cdhr4 UTSW 9 107,872,486 (GRCm39) missense probably benign 0.00
R4106:Cdhr4 UTSW 9 107,873,459 (GRCm39) missense probably damaging 1.00
R4515:Cdhr4 UTSW 9 107,870,150 (GRCm39) missense probably benign 0.31
R4686:Cdhr4 UTSW 9 107,872,883 (GRCm39) missense probably benign 0.00
R4799:Cdhr4 UTSW 9 107,875,898 (GRCm39) splice site probably benign
R5165:Cdhr4 UTSW 9 107,874,829 (GRCm39) missense probably damaging 1.00
R5478:Cdhr4 UTSW 9 107,872,790 (GRCm39) missense possibly damaging 0.61
R5574:Cdhr4 UTSW 9 107,870,527 (GRCm39) unclassified probably benign
R7387:Cdhr4 UTSW 9 107,874,111 (GRCm39) nonsense probably null
R7609:Cdhr4 UTSW 9 107,874,482 (GRCm39) missense probably damaging 0.99
R7663:Cdhr4 UTSW 9 107,875,971 (GRCm39) nonsense probably null
R8141:Cdhr4 UTSW 9 107,873,991 (GRCm39) missense
R8483:Cdhr4 UTSW 9 107,872,198 (GRCm39) missense probably damaging 1.00
R8493:Cdhr4 UTSW 9 107,873,453 (GRCm39) missense probably damaging 1.00
R8715:Cdhr4 UTSW 9 107,874,596 (GRCm39) missense
R8816:Cdhr4 UTSW 9 107,872,791 (GRCm39) missense possibly damaging 0.56
R9392:Cdhr4 UTSW 9 107,873,507 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16