Incidental Mutation 'IGL02097:Cdhr5'
ID 279635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdhr5
Ensembl Gene ENSMUSG00000025497
Gene Name cadherin-related family member 5
Synonyms Mupcdh, Mucdhl, 1810074H01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02097
Quality Score
Status
Chromosome 7
Chromosomal Location 140848996-140856699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 140849894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 637 (T637K)
Ref Sequence ENSEMBL: ENSMUSP00000127292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026571] [ENSMUST00000080654] [ENSMUST00000097952] [ENSMUST00000106023] [ENSMUST00000167263] [ENSMUST00000210124] [ENSMUST00000210773] [ENSMUST00000209899]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026571
SMART Domains Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 5 127 1.13e-54 SMART
IRF-3 240 420 1.38e-63 SMART
low complexity region 425 442 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000080654
AA Change: T475K

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: T475K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 3e-24 BLAST
transmembrane domain 478 500 N/A INTRINSIC
low complexity region 546 580 N/A INTRINSIC
low complexity region 634 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097952
SMART Domains Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 5 127 1.13e-54 SMART
IRF-3 209 389 1.38e-63 SMART
low complexity region 394 411 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106023
SMART Domains Protein: ENSMUSP00000101644
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 5 127 1.13e-54 SMART
IRF-3 208 388 1.38e-63 SMART
low complexity region 393 410 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123525
SMART Domains Protein: ENSMUSP00000121026
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 1 69 6.35e-3 SMART
IRF-3 77 251 2.62e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127161
Predicted Effect probably damaging
Transcript: ENSMUST00000167263
AA Change: T637K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: T637K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 1e-24 BLAST
low complexity region 462 476 N/A INTRINSIC
low complexity region 496 518 N/A INTRINSIC
low complexity region 520 544 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
transmembrane domain 640 662 N/A INTRINSIC
low complexity region 708 742 N/A INTRINSIC
low complexity region 796 815 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210124
AA Change: T293K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect silent
Transcript: ENSMUST00000210773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148414
Predicted Effect probably benign
Transcript: ENSMUST00000209899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156938
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 novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]
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
Cdhr4 T A 9: 107,870,199 (GRCm39) M68K probably benign 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 Cdhr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02662:Cdhr5 APN 7 140,854,416 (GRCm39) missense possibly damaging 0.57
R0002:Cdhr5 UTSW 7 140,849,933 (GRCm39) splice site probably null
R0098:Cdhr5 UTSW 7 140,849,781 (GRCm39) missense probably damaging 1.00
R0201:Cdhr5 UTSW 7 140,856,291 (GRCm39) missense probably damaging 1.00
R0494:Cdhr5 UTSW 7 140,852,431 (GRCm39) missense probably damaging 1.00
R0508:Cdhr5 UTSW 7 140,852,812 (GRCm39) missense probably benign 0.41
R0918:Cdhr5 UTSW 7 140,852,062 (GRCm39) missense probably damaging 1.00
R1570:Cdhr5 UTSW 7 140,851,682 (GRCm39) missense probably damaging 1.00
R1571:Cdhr5 UTSW 7 140,852,083 (GRCm39) missense probably damaging 1.00
R1838:Cdhr5 UTSW 7 140,852,516 (GRCm39) missense possibly damaging 0.93
R3912:Cdhr5 UTSW 7 140,853,770 (GRCm39) missense probably damaging 1.00
R4289:Cdhr5 UTSW 7 140,852,752 (GRCm39) missense probably damaging 0.99
R4491:Cdhr5 UTSW 7 140,853,970 (GRCm39) missense possibly damaging 0.55
R4838:Cdhr5 UTSW 7 140,853,644 (GRCm39) missense probably damaging 1.00
R4949:Cdhr5 UTSW 7 140,852,557 (GRCm39) missense probably damaging 0.97
R5187:Cdhr5 UTSW 7 140,854,361 (GRCm39) missense probably damaging 1.00
R5344:Cdhr5 UTSW 7 140,856,437 (GRCm39) missense probably damaging 0.97
R5642:Cdhr5 UTSW 7 140,849,110 (GRCm39) nonsense probably null
R6736:Cdhr5 UTSW 7 140,852,444 (GRCm39) missense probably damaging 0.97
R7172:Cdhr5 UTSW 7 140,851,841 (GRCm39) missense possibly damaging 0.90
R7212:Cdhr5 UTSW 7 140,852,572 (GRCm39) missense probably damaging 0.99
R7693:Cdhr5 UTSW 7 140,851,691 (GRCm39) missense probably benign
R8397:Cdhr5 UTSW 7 140,851,801 (GRCm39) missense possibly damaging 0.87
R8682:Cdhr5 UTSW 7 140,855,899 (GRCm39) critical splice donor site probably null
R8804:Cdhr5 UTSW 7 140,849,320 (GRCm39) missense probably benign 0.01
R9216:Cdhr5 UTSW 7 140,851,615 (GRCm39) missense possibly damaging 0.55
R9304:Cdhr5 UTSW 7 140,851,474 (GRCm39) missense probably benign 0.06
RF016:Cdhr5 UTSW 7 140,852,097 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16