Incidental Mutation 'R1906:Cdr2'
ID 214379
Institutional Source Beutler Lab
Gene Symbol Cdr2
Ensembl Gene ENSMUSG00000030878
Gene Name cerebellar degeneration-related 2
Synonyms
MMRRC Submission 039925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1906 (G1)
Quality Score 190
Status Not validated
Chromosome 7
Chromosomal Location 120556259-120581535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120581224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 18 (Y18H)
Ref Sequence ENSEMBL: ENSMUSP00000033169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000033169] [ENSMUST00000138177] [ENSMUST00000140247] [ENSMUST00000149535] [ENSMUST00000216241]
AlphaFold P97817
Predicted Effect probably benign
Transcript: ENSMUST00000033166
SMART Domains Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877

DomainStartEndE-ValueType
Pfam:MFS_2 9 439 5.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000033169
AA Change: Y18H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033169
Gene: ENSMUSG00000030878
AA Change: Y18H

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
coiled coil region 37 141 N/A INTRINSIC
coiled coil region 191 258 N/A INTRINSIC
coiled coil region 345 374 N/A INTRINSIC
low complexity region 403 421 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138177
Predicted Effect probably benign
Transcript: ENSMUST00000140247
Predicted Effect probably benign
Transcript: ENSMUST00000149535
SMART Domains Protein: ENSMUSP00000115341
Gene: ENSMUSG00000030877

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207722
Predicted Effect probably benign
Transcript: ENSMUST00000216241
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile, and overtly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,072,984 (GRCm39) T923I probably benign Het
Abhd13 T A 8: 10,038,170 (GRCm39) C256S probably benign Het
Adamts5 C T 16: 85,665,573 (GRCm39) W576* probably null Het
Adnp A T 2: 168,024,287 (GRCm39) S1003T probably benign Het
AI987944 C T 7: 41,024,550 (GRCm39) R146Q probably benign Het
Apol6 G T 15: 76,935,060 (GRCm39) V110F probably damaging Het
Arhgap27 A G 11: 103,223,751 (GRCm39) F651L probably damaging Het
Atm T C 9: 53,417,868 (GRCm39) D813G probably damaging Het
Casd1 T A 6: 4,641,979 (GRCm39) I752N probably damaging Het
Cntn4 T C 6: 106,330,607 (GRCm39) F75S probably benign Het
Col20a1 G A 2: 180,640,490 (GRCm39) R549H probably benign Het
Col28a1 A T 6: 7,999,644 (GRCm39) N1024K probably benign Het
Dnah10 T A 5: 124,878,048 (GRCm39) V2654D probably damaging Het
Dnph1 A T 17: 46,807,787 (GRCm39) I18F probably damaging Het
Dsn1 G A 2: 156,838,163 (GRCm39) R334W probably damaging Het
Egf T A 3: 129,518,873 (GRCm39) K325N probably benign Het
Eps15 T G 4: 109,181,398 (GRCm39) S311A possibly damaging Het
Fmo3 G T 1: 162,794,475 (GRCm39) D198E probably damaging Het
Folh1 C G 7: 86,391,374 (GRCm39) probably null Het
Foxn1 A G 11: 78,262,636 (GRCm39) probably null Het
Gm10604 T G 4: 11,979,989 (GRCm39) D105A unknown Het
Gpx8 A G 13: 113,182,110 (GRCm39) C108R probably damaging Het
Herc2 A T 7: 55,764,612 (GRCm39) I1013L probably benign Het
Hyal4 T G 6: 24,756,110 (GRCm39) N109K probably damaging Het
Il22ra1 T G 4: 135,478,544 (GRCm39) C538W probably damaging Het
Ints13 A T 6: 146,453,868 (GRCm39) probably null Het
Krt75 T A 15: 101,481,801 (GRCm39) T156S possibly damaging Het
Lama2 A C 10: 26,932,523 (GRCm39) probably null Het
Lifr G T 15: 7,217,612 (GRCm39) V847L probably damaging Het
Lmf1 T A 17: 25,831,309 (GRCm39) I185N probably damaging Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Ms4a15 T C 19: 10,960,644 (GRCm39) I94V probably benign Het
Mycbpap A T 11: 94,396,447 (GRCm39) M131K probably benign Het
Ncor1 A T 11: 62,240,211 (GRCm39) M920K possibly damaging Het
Neb A G 2: 52,198,538 (GRCm39) Y437H probably damaging Het
Npy5r A T 8: 67,134,125 (GRCm39) W223R probably damaging Het
Or10ak11 G A 4: 118,687,467 (GRCm39) H56Y probably damaging Het
Or10x4 C A 1: 174,218,730 (GRCm39) L32M probably damaging Het
Or4c114 A G 2: 88,905,414 (GRCm39) V7A possibly damaging Het
Or6c6c T G 10: 129,541,365 (GRCm39) V206G probably benign Het
Polg T C 7: 79,110,070 (GRCm39) K353E probably damaging Het
Proz C G 8: 13,123,686 (GRCm39) probably null Het
Pus7 T C 5: 23,983,209 (GRCm39) D86G probably damaging Het
Rhpn1 T C 15: 75,583,673 (GRCm39) V386A probably benign Het
Rigi T C 4: 40,206,054 (GRCm39) K846R probably benign Het
Sptbn4 A G 7: 27,090,856 (GRCm39) probably null Het
Srp68 A T 11: 116,141,587 (GRCm39) I424N probably damaging Het
Stard9 A G 2: 120,526,908 (GRCm39) E1055G probably benign Het
Taf4b A G 18: 14,955,159 (GRCm39) I571V probably benign Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Thap12 T C 7: 98,365,947 (GRCm39) L705P probably damaging Het
Tom1 T C 8: 75,778,218 (GRCm39) V100A probably damaging Het
Tox3 A G 8: 90,975,057 (GRCm39) probably benign Het
Vmn2r82 A G 10: 79,232,344 (GRCm39) N781S probably damaging Het
Vwa5b1 A T 4: 138,327,547 (GRCm39) V343E possibly damaging Het
Zbbx A G 3: 74,979,047 (GRCm39) Y467H probably damaging Het
Zbtb46 G A 2: 181,065,632 (GRCm39) R173W probably damaging Het
Zfp112 A G 7: 23,821,720 (GRCm39) D20G probably benign Het
Zfp777 A C 6: 48,018,995 (GRCm39) M313R probably damaging Het
Other mutations in Cdr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01659:Cdr2 APN 7 120,557,772 (GRCm39) missense probably damaging 0.99
R0394:Cdr2 UTSW 7 120,557,954 (GRCm39) missense probably benign 0.00
R0975:Cdr2 UTSW 7 120,557,614 (GRCm39) missense probably benign 0.07
R1781:Cdr2 UTSW 7 120,557,268 (GRCm39) missense probably benign 0.01
R2124:Cdr2 UTSW 7 120,581,250 (GRCm39) missense probably damaging 1.00
R2273:Cdr2 UTSW 7 120,557,732 (GRCm39) missense possibly damaging 0.71
R2274:Cdr2 UTSW 7 120,557,732 (GRCm39) missense possibly damaging 0.71
R2275:Cdr2 UTSW 7 120,557,732 (GRCm39) missense possibly damaging 0.71
R2362:Cdr2 UTSW 7 120,569,554 (GRCm39) missense possibly damaging 0.77
R4783:Cdr2 UTSW 7 120,557,644 (GRCm39) missense probably benign 0.00
R5269:Cdr2 UTSW 7 120,557,557 (GRCm39) missense possibly damaging 0.95
R5403:Cdr2 UTSW 7 120,557,968 (GRCm39) nonsense probably null
R5650:Cdr2 UTSW 7 120,557,559 (GRCm39) missense probably damaging 0.96
R5923:Cdr2 UTSW 7 120,581,224 (GRCm39) missense probably damaging 1.00
R6384:Cdr2 UTSW 7 120,581,351 (GRCm39) splice site probably null
R7073:Cdr2 UTSW 7 120,581,247 (GRCm39) missense probably damaging 1.00
R9004:Cdr2 UTSW 7 120,557,722 (GRCm39) missense probably benign 0.01
R9111:Cdr2 UTSW 7 120,559,345 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CCGGCAAGCGCTTTCTTAAAG -3'
(R):5'- GCTCATTCGTGATTGGTCAAGG -3'

Sequencing Primer
(F):5'- ACCGAGCATCAGCCTGTGTG -3'
(R):5'- TCTGCCAAAGTGCCACGTTG -3'
Posted On 2014-07-14