Incidental Mutation 'R6449:Cdhr1'
ID 519310
Institutional Source Beutler Lab
Gene Symbol Cdhr1
Ensembl Gene ENSMUSG00000021803
Gene Name cadherin-related family member 1
Synonyms Prcad, Pcdh21
MMRRC Submission 044585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6449 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 36799814-36820304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36812554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 210 (T210A)
Ref Sequence ENSEMBL: ENSMUSP00000022337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022337]
AlphaFold Q8VHP6
Predicted Effect probably benign
Transcript: ENSMUST00000022337
AA Change: T210A

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: T210A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 57 133 9.4e-7 SMART
CA 157 245 9.44e-21 SMART
CA 269 352 2.06e-12 SMART
CA 383 471 2.68e-11 SMART
CA 495 575 5.26e-19 SMART
CA 594 685 1.64e-6 SMART
transmembrane domain 703 725 N/A INTRINSIC
low complexity region 734 745 N/A INTRINSIC
low complexity region 789 799 N/A INTRINSIC
low complexity region 817 829 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.6%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,298 (GRCm39) Q334* probably null Het
Aadacl2fm2 A T 3: 59,652,972 (GRCm39) D137V probably damaging Het
Adam28 T C 14: 68,868,116 (GRCm39) T410A probably benign Het
Ano10 T C 9: 122,030,754 (GRCm39) probably benign Het
Bmpr2 T A 1: 59,906,596 (GRCm39) V563E probably damaging Het
Ccdc47 A G 11: 106,095,811 (GRCm39) L295P probably damaging Het
Col16a1 G A 4: 129,960,486 (GRCm39) A408T unknown Het
Csnk1g2 A G 10: 80,475,906 (GRCm39) K415R probably damaging Het
Cyp2c29 G T 19: 39,279,311 (GRCm39) A103S probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A T 18: 20,527,498 (GRCm39) I210F possibly damaging Het
Fhod1 T A 8: 106,056,869 (GRCm39) D1002V probably damaging Het
Gm5592 G A 7: 40,938,010 (GRCm39) V431I probably benign Het
Gtpbp4 A T 13: 9,040,773 (GRCm39) C174* probably null Het
Il2ra A G 2: 11,685,173 (GRCm39) K170E probably benign Het
Itch T C 2: 155,005,315 (GRCm39) probably benign Het
Jazf1 A C 6: 52,754,640 (GRCm39) D145E probably damaging Het
Kank2 G T 9: 21,691,858 (GRCm39) A469E possibly damaging Het
Kirrel3 A G 9: 34,902,269 (GRCm39) I125V probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Krtap27-1 C T 16: 88,467,941 (GRCm39) S201N probably benign Het
Map3k20 T C 2: 72,228,758 (GRCm39) S326P probably damaging Het
Mkks C A 2: 136,716,206 (GRCm39) V565F probably damaging Het
Ntaq1 T G 15: 58,013,994 (GRCm39) probably null Het
Or5c1 A G 2: 37,221,837 (GRCm39) D26G possibly damaging Het
Or5k8 A T 16: 58,644,889 (GRCm39) I61N probably damaging Het
Or5w11 T C 2: 87,459,493 (GRCm39) S229P possibly damaging Het
Pacsin3 A T 2: 91,090,514 (GRCm39) probably null Het
Pdcd7 A G 9: 65,264,057 (GRCm39) E434G probably damaging Het
Plekhb2 T C 1: 34,903,564 (GRCm39) F102L probably benign Het
Ppp1r9a A G 6: 5,057,458 (GRCm39) D191G probably benign Het
Psmd3 A G 11: 98,576,466 (GRCm39) T123A probably benign Het
Ptprq C T 10: 107,541,444 (GRCm39) V361M probably benign Het
Raver2 A G 4: 100,990,869 (GRCm39) D414G probably benign Het
Rnf123 G A 9: 107,933,252 (GRCm39) H1162Y probably benign Het
Sema4f A G 6: 82,894,851 (GRCm39) V448A probably benign Het
Tcf12 A T 9: 71,775,550 (GRCm39) M400K probably damaging Het
Tcl1b2 G T 12: 105,119,261 (GRCm39) E50* probably null Het
Thada A C 17: 84,736,601 (GRCm39) D893E probably benign Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ttll5 T C 12: 86,071,050 (GRCm39) S1308P probably benign Het
Ubtfl1 T A 9: 18,320,925 (GRCm39) I151N possibly damaging Het
Vmn2r70 A T 7: 85,214,157 (GRCm39) F332I probably damaging Het
Zfhx4 A G 3: 5,307,488 (GRCm39) D238G probably damaging Het
Zfp639 A G 3: 32,573,810 (GRCm39) H145R possibly damaging Het
Other mutations in Cdhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Cdhr1 APN 14 36,807,485 (GRCm39) missense probably benign 0.06
IGL01820:Cdhr1 APN 14 36,807,536 (GRCm39) missense probably benign 0.11
IGL02469:Cdhr1 APN 14 36,807,557 (GRCm39) missense possibly damaging 0.68
IGL03373:Cdhr1 APN 14 36,818,257 (GRCm39) missense possibly damaging 0.89
IGL03055:Cdhr1 UTSW 14 36,817,054 (GRCm39) missense probably benign 0.07
PIT4494001:Cdhr1 UTSW 14 36,804,813 (GRCm39) missense probably benign 0.07
R0110:Cdhr1 UTSW 14 36,802,633 (GRCm39) missense probably damaging 0.99
R0219:Cdhr1 UTSW 14 36,801,558 (GRCm39) missense possibly damaging 0.82
R0265:Cdhr1 UTSW 14 36,803,333 (GRCm39) missense probably benign 0.02
R0450:Cdhr1 UTSW 14 36,802,633 (GRCm39) missense probably damaging 0.99
R0510:Cdhr1 UTSW 14 36,802,633 (GRCm39) missense probably damaging 0.99
R0522:Cdhr1 UTSW 14 36,815,957 (GRCm39) critical splice donor site probably null
R0788:Cdhr1 UTSW 14 36,809,332 (GRCm39) critical splice donor site probably null
R0880:Cdhr1 UTSW 14 36,802,591 (GRCm39) missense possibly damaging 0.53
R1209:Cdhr1 UTSW 14 36,804,899 (GRCm39) splice site probably null
R1253:Cdhr1 UTSW 14 36,801,582 (GRCm39) missense probably benign
R1604:Cdhr1 UTSW 14 36,817,050 (GRCm39) missense probably benign 0.29
R1968:Cdhr1 UTSW 14 36,801,682 (GRCm39) missense probably benign 0.00
R2064:Cdhr1 UTSW 14 36,817,062 (GRCm39) missense probably benign 0.10
R2248:Cdhr1 UTSW 14 36,803,334 (GRCm39) missense probably benign
R3843:Cdhr1 UTSW 14 36,806,884 (GRCm39) missense probably benign 0.03
R4178:Cdhr1 UTSW 14 36,804,896 (GRCm39) splice site probably null
R4205:Cdhr1 UTSW 14 36,802,461 (GRCm39) missense probably benign 0.00
R4681:Cdhr1 UTSW 14 36,818,194 (GRCm39) missense probably benign 0.01
R5039:Cdhr1 UTSW 14 36,801,600 (GRCm39) missense probably benign 0.02
R5088:Cdhr1 UTSW 14 36,811,422 (GRCm39) missense probably benign 0.08
R5383:Cdhr1 UTSW 14 36,810,964 (GRCm39) missense possibly damaging 0.94
R5507:Cdhr1 UTSW 14 36,804,802 (GRCm39) missense probably damaging 0.98
R5933:Cdhr1 UTSW 14 36,811,419 (GRCm39) missense probably benign 0.01
R6074:Cdhr1 UTSW 14 36,801,600 (GRCm39) missense probably benign 0.02
R6291:Cdhr1 UTSW 14 36,811,422 (GRCm39) missense probably benign 0.31
R6890:Cdhr1 UTSW 14 36,807,602 (GRCm39) missense probably damaging 1.00
R6891:Cdhr1 UTSW 14 36,819,334 (GRCm39) splice site probably null
R7653:Cdhr1 UTSW 14 36,804,158 (GRCm39) missense probably benign 0.27
R7740:Cdhr1 UTSW 14 36,811,337 (GRCm39) missense probably damaging 0.98
R7805:Cdhr1 UTSW 14 36,803,502 (GRCm39) missense probably benign 0.00
R8081:Cdhr1 UTSW 14 36,815,967 (GRCm39) missense probably benign 0.01
R8147:Cdhr1 UTSW 14 36,801,609 (GRCm39) missense probably benign 0.02
R8164:Cdhr1 UTSW 14 36,801,499 (GRCm39) missense probably damaging 1.00
R8283:Cdhr1 UTSW 14 36,804,737 (GRCm39) missense probably benign 0.00
R8343:Cdhr1 UTSW 14 36,813,935 (GRCm39) missense probably benign 0.00
R8848:Cdhr1 UTSW 14 36,802,531 (GRCm39) missense probably benign 0.21
R8938:Cdhr1 UTSW 14 36,809,405 (GRCm39) missense probably benign 0.17
R9031:Cdhr1 UTSW 14 36,815,976 (GRCm39) missense probably benign
R9035:Cdhr1 UTSW 14 36,810,924 (GRCm39) missense possibly damaging 0.69
R9206:Cdhr1 UTSW 14 36,802,505 (GRCm39) missense probably damaging 0.99
R9246:Cdhr1 UTSW 14 36,801,654 (GRCm39) missense possibly damaging 0.46
R9274:Cdhr1 UTSW 14 36,802,564 (GRCm39) missense probably benign 0.15
R9366:Cdhr1 UTSW 14 36,811,463 (GRCm39) missense possibly damaging 0.92
R9401:Cdhr1 UTSW 14 36,820,055 (GRCm39) missense probably benign
R9545:Cdhr1 UTSW 14 36,817,016 (GRCm39) missense possibly damaging 0.51
R9713:Cdhr1 UTSW 14 36,801,751 (GRCm39) missense probably damaging 1.00
R9797:Cdhr1 UTSW 14 36,803,462 (GRCm39) missense probably damaging 1.00
X0062:Cdhr1 UTSW 14 36,801,736 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGCCTCTCTAGCCTAAC -3'
(R):5'- CCTTCAGTAGTCAGAGCAAGAG -3'

Sequencing Primer
(F):5'- GCATTCCTGGAAAATGTGTTCAGAC -3'
(R):5'- AAGAGCTCTTGGTGTGCCC -3'
Posted On 2018-05-24