Incidental Mutation 'R1645:Cby2'
ID 173833
Institutional Source Beutler Lab
Gene Symbol Cby2
Ensembl Gene ENSMUSG00000034913
Gene Name chibby family member 2
Synonyms Spert, Nurit, 1700086N05Rik
MMRRC Submission 039681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1645 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75820317-75830556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75821089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 212 (R212L)
Ref Sequence ENSEMBL: ENSMUSP00000046259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035243] [ENSMUST00000164082] [ENSMUST00000165569] [ENSMUST00000169658]
AlphaFold Q32MG2
Predicted Effect probably benign
Transcript: ENSMUST00000035243
AA Change: R212L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913
AA Change: R212L

DomainStartEndE-ValueType
Pfam:Chibby 40 176 1e-13 PFAM
coiled coil region 200 228 N/A INTRINSIC
coiled coil region 317 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164082
AA Change: R248L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: R248L

DomainStartEndE-ValueType
Pfam:Chibby 77 200 4.9e-15 PFAM
coiled coil region 236 264 N/A INTRINSIC
coiled coil region 353 397 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165569
AA Change: R170L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913
AA Change: R170L

DomainStartEndE-ValueType
Pfam:Chibby 1 135 2.1e-13 PFAM
coiled coil region 158 186 N/A INTRINSIC
coiled coil region 275 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169658
AA Change: R221L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913
AA Change: R221L

DomainStartEndE-ValueType
Pfam:Chibby 49 185 2.4e-14 PFAM
coiled coil region 209 237 N/A INTRINSIC
coiled coil region 326 370 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,948,926 (GRCm39) M1732V probably benign Het
Acvr1 A T 2: 58,352,911 (GRCm39) C350S probably damaging Het
Adgrl2 A T 3: 148,571,244 (GRCm39) V130D probably damaging Het
Anapc1 A G 2: 128,500,166 (GRCm39) probably null Het
Asap1 A T 15: 63,961,324 (GRCm39) V1116E probably damaging Het
Bcas1 T A 2: 170,229,087 (GRCm39) D308V probably damaging Het
Brca1 G A 11: 101,400,879 (GRCm39) H1468Y probably benign Het
C2cd5 A G 6: 142,995,852 (GRCm39) C421R probably damaging Het
C4b A G 17: 34,959,571 (GRCm39) S363P probably damaging Het
Camk2b A T 11: 5,922,719 (GRCm39) C484S probably damaging Het
Ccny T C 18: 9,345,199 (GRCm39) T192A probably damaging Het
Chl1 G T 6: 103,660,141 (GRCm39) A356S probably benign Het
Dst T A 1: 34,264,803 (GRCm39) Y4850N probably damaging Het
Dyrk4 C A 6: 126,871,756 (GRCm39) E171* probably null Het
Entrep3 C A 3: 89,094,154 (GRCm39) D322E possibly damaging Het
Ephb1 A G 9: 101,804,758 (GRCm39) Y928H probably damaging Het
Fam114a2 A T 11: 57,390,621 (GRCm39) N304K probably benign Het
Fras1 A T 5: 96,848,445 (GRCm39) D1820V possibly damaging Het
Gabbr2 A T 4: 46,664,963 (GRCm39) probably null Het
Gm6358 T C 16: 88,937,967 (GRCm39) W69R unknown Het
Ikbkb C A 8: 23,181,082 (GRCm39) S127I probably damaging Het
Impa1 A T 3: 10,393,501 (GRCm39) M48K possibly damaging Het
Klra2 A T 6: 131,220,857 (GRCm39) probably null Het
Lama1 A T 17: 68,044,677 (GRCm39) Y192F probably benign Het
Lama2 T A 10: 27,244,981 (GRCm39) T267S probably damaging Het
Mroh7 G A 4: 106,577,865 (GRCm39) T271I probably benign Het
Myo9b A G 8: 71,775,622 (GRCm39) E348G probably damaging Het
Nrp2 C T 1: 62,824,283 (GRCm39) P796L probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or10al4 A T 17: 38,037,229 (GRCm39) T114S probably benign Het
Or51i1 A G 7: 103,671,210 (GRCm39) F105S probably damaging Het
Or9k7 T A 10: 130,046,081 (GRCm39) D306V probably damaging Het
P3h2 T A 16: 25,815,982 (GRCm39) H177L probably damaging Het
Pcdhb16 T C 18: 37,612,423 (GRCm39) I461T probably benign Het
Pdlim3 A G 8: 46,349,785 (GRCm39) I32V probably benign Het
Pigu A C 2: 155,170,598 (GRCm39) Y143* probably null Het
Prkd3 A C 17: 79,263,949 (GRCm39) probably null Het
Psrc1 C T 3: 108,292,554 (GRCm39) R116W probably damaging Het
Rab5b A G 10: 128,522,695 (GRCm39) S29P possibly damaging Het
Rbm26 A G 14: 105,388,253 (GRCm39) V403A probably damaging Het
Rbm47 G T 5: 66,184,481 (GRCm39) R41S probably benign Het
Rngtt A G 4: 33,362,939 (GRCm39) I364M probably damaging Het
Ryr2 A T 13: 11,733,368 (GRCm39) C2271* probably null Het
Shcbp1 T A 8: 4,799,645 (GRCm39) Q277L probably benign Het
Sntg1 T C 1: 8,874,155 (GRCm39) T5A probably benign Het
Snx24 T C 18: 53,522,634 (GRCm39) F163S probably benign Het
Srp72 T C 5: 77,146,125 (GRCm39) V581A probably benign Het
Srrt T A 5: 137,300,401 (GRCm39) K59* probably null Het
Tnrc6b A G 15: 80,767,159 (GRCm39) T975A probably damaging Het
Vmn1r174 G A 7: 23,453,777 (GRCm39) V148I possibly damaging Het
Vmn2r115 T A 17: 23,565,192 (GRCm39) C360S possibly damaging Het
Vwa8 A T 14: 79,420,427 (GRCm39) Q1709H probably damaging Het
Wdr11 A G 7: 129,215,613 (GRCm39) T526A probably benign Het
Zfp532 C A 18: 65,820,335 (GRCm39) N973K probably benign Het
Other mutations in Cby2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Cby2 APN 14 75,830,085 (GRCm39) missense possibly damaging 0.69
IGL01556:Cby2 APN 14 75,821,551 (GRCm39) missense probably damaging 1.00
IGL02653:Cby2 APN 14 75,820,597 (GRCm39) missense probably damaging 1.00
IGL03366:Cby2 APN 14 75,820,829 (GRCm39) missense probably benign 0.01
R0071:Cby2 UTSW 14 75,821,621 (GRCm39) missense probably benign 0.00
R1738:Cby2 UTSW 14 75,830,497 (GRCm39) start codon destroyed probably null 0.98
R1844:Cby2 UTSW 14 75,820,850 (GRCm39) missense probably benign 0.12
R4773:Cby2 UTSW 14 75,820,546 (GRCm39) missense probably damaging 1.00
R4857:Cby2 UTSW 14 75,830,478 (GRCm39) missense probably damaging 1.00
R5201:Cby2 UTSW 14 75,821,449 (GRCm39) missense probably damaging 1.00
R5274:Cby2 UTSW 14 75,820,666 (GRCm39) missense probably benign 0.00
R5880:Cby2 UTSW 14 75,821,243 (GRCm39) missense probably benign 0.02
R6915:Cby2 UTSW 14 75,830,098 (GRCm39) missense probably benign 0.37
R7399:Cby2 UTSW 14 75,830,077 (GRCm39) missense probably benign 0.00
R8054:Cby2 UTSW 14 75,821,339 (GRCm39) missense probably benign 0.00
R8062:Cby2 UTSW 14 75,830,046 (GRCm39) missense probably benign 0.13
R8172:Cby2 UTSW 14 75,829,241 (GRCm39) splice site probably null
R8998:Cby2 UTSW 14 75,820,654 (GRCm39) missense probably damaging 1.00
R9348:Cby2 UTSW 14 75,820,838 (GRCm39) missense probably damaging 0.99
R9550:Cby2 UTSW 14 75,820,603 (GRCm39) missense probably damaging 1.00
X0023:Cby2 UTSW 14 75,820,574 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTTAACCATCTCCCTCAGGGCAC -3'
(R):5'- TCTTTTGGGAAGAGCACAAGGTCAC -3'

Sequencing Primer
(F):5'- ACGCAGTGTCTTCGAGTC -3'
(R):5'- AAGGTCACTTTAGGCCACG -3'
Posted On 2014-04-24