Incidental Mutation 'IGL02097:Cdhr4'
ID 279624
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 # IGL02097
Quality Score
Status
Chromosome 9
Chromosomal Location 107869696-107876883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107870199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 68 (M68K)
Ref Sequence ENSEMBL: ENSMUSP00000135184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175759] [ENSMUST00000177173] [ENSMUST00000177368] [ENSMUST00000176373] [ENSMUST00000176356] [ENSMUST00000176306] [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: ENSMUST00000176166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176183
Predicted Effect probably benign
Transcript: ENSMUST00000177173
AA Change: M68K

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: M68K

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: ENSMUST00000176382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176454
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: 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: ENSMUST00000177516
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 105,109,052 (GRCm39) V415D possibly damaging Het
Adcy3 C T 12: 4,262,118 (GRCm39) A1056V probably damaging Het
Adcy5 G A 16: 35,092,468 (GRCm39) A610T probably damaging Het
Arhgap21 G A 2: 20,884,813 (GRCm39) T788I probably benign Het
Asic1 T C 15: 99,592,567 (GRCm39) probably benign Het
Cdhr5 G T 7: 140,849,894 (GRCm39) T637K probably damaging Het
Corin A T 5: 72,529,489 (GRCm39) C289S probably damaging Het
Cpne4 T C 9: 104,563,701 (GRCm39) V26A probably damaging Het
Csmd1 T C 8: 16,261,773 (GRCm39) D908G probably null Het
Cyp2c29 A G 19: 39,296,064 (GRCm39) D126G probably damaging Het
Ddx42 G A 11: 106,129,986 (GRCm39) S426N probably benign Het
Dnah1 C T 14: 31,026,958 (GRCm39) V689M possibly damaging Het
Dtwd1 A G 2: 126,006,715 (GRCm39) T246A probably damaging Het
Fbn1 A T 2: 125,205,889 (GRCm39) M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 (GRCm39) N536S probably benign Het
Gnal G A 18: 67,350,279 (GRCm39) probably benign Het
Gns A G 10: 121,226,598 (GRCm39) T416A probably benign Het
Heatr5b G A 17: 79,124,943 (GRCm39) T603I probably damaging Het
Hsp90b1 T A 10: 86,527,548 (GRCm39) probably benign Het
Krt23 C T 11: 99,383,836 (GRCm39) G19R probably benign Het
Lama2 C T 10: 27,014,956 (GRCm39) R1584H probably benign Het
Lmbr1l C T 15: 98,815,772 (GRCm39) V11M probably damaging Het
Man1a2 T C 3: 100,489,447 (GRCm39) K511E possibly damaging Het
Mrgpra3 C A 7: 47,239,204 (GRCm39) V241F possibly damaging Het
Myh3 A G 11: 66,973,750 (GRCm39) D141G probably benign Het
Mylk2 G A 2: 152,757,056 (GRCm39) C277Y probably damaging Het
Myo3b A T 2: 70,069,173 (GRCm39) T471S probably damaging Het
Naip1 A G 13: 100,562,096 (GRCm39) V1023A probably benign Het
Olfm5 T A 7: 103,803,438 (GRCm39) T342S probably benign Het
Or10g1 A G 14: 52,647,511 (GRCm39) F273L probably benign Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Pglyrp4 T C 3: 90,642,910 (GRCm39) F263L probably benign Het
Plekhh2 A T 17: 84,906,608 (GRCm39) T1148S possibly damaging Het
Prrc2b T C 2: 32,081,513 (GRCm39) probably benign Het
Rbm28 G T 6: 29,138,617 (GRCm39) D398E possibly damaging Het
Rnf220 A G 4: 117,130,524 (GRCm39) F234L probably benign Het
Sele T C 1: 163,880,662 (GRCm39) S415P probably benign Het
Shpk T C 11: 73,094,821 (GRCm39) L79P probably damaging Het
Slc35f4 C T 14: 49,543,703 (GRCm39) A148T probably damaging Het
Slc6a20a G A 9: 123,489,684 (GRCm39) P120S possibly damaging Het
Slc8a2 A G 7: 15,891,081 (GRCm39) E701G possibly damaging Het
Slco1a1 T A 6: 141,885,765 (GRCm39) I87F possibly damaging Het
Srebf1 T G 11: 60,093,650 (GRCm39) D739A probably damaging Het
Thg1l A G 11: 45,841,055 (GRCm39) Y175H probably benign Het
Traf3ip2 G A 10: 39,530,475 (GRCm39) V540M probably damaging Het
Wdr48 A G 9: 119,753,329 (GRCm39) D644G probably damaging Het
Zbtb1 A T 12: 76,433,371 (GRCm39) K452N probably damaging Het
Zfhx2 C T 14: 55,300,351 (GRCm39) G2467R probably damaging Het
Zfp334 A T 2: 165,223,643 (GRCm39) Y133* probably null 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
IGL02441:Cdhr4 APN 9 107,870,466 (GRCm39) missense possibly damaging 0.84
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