Incidental Mutation 'R5201:Cby2'
ID 400823
Institutional Source Beutler Lab
Gene Symbol Cby2
Ensembl Gene ENSMUSG00000034913
Gene Name chibby family member 2
Synonyms Spert, Nurit, 1700086N05Rik
MMRRC Submission 042776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5201 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75820317-75830556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75821449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 101 (V101A)
Ref Sequence ENSEMBL: ENSMUSP00000129616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035243] [ENSMUST00000164082] [ENSMUST00000165569] [ENSMUST00000169658]
AlphaFold Q32MG2
Predicted Effect probably damaging
Transcript: ENSMUST00000035243
AA Change: V92A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913
AA Change: V92A

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 damaging
Transcript: ENSMUST00000164082
AA Change: V128A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: V128A

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 damaging
Transcript: ENSMUST00000165569
AA Change: V50A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913
AA Change: V50A

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 damaging
Transcript: ENSMUST00000169658
AA Change: V101A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913
AA Change: V101A

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,946,745 (GRCm39) T214N probably benign Het
Actn4 A T 7: 28,615,680 (GRCm39) probably null Het
Arap2 T C 5: 62,840,832 (GRCm39) E678G probably damaging Het
Atl2 T C 17: 80,172,580 (GRCm39) N130S probably benign Het
Cyp2b10 A G 7: 25,616,419 (GRCm39) D342G probably damaging Het
Dnah6 A G 6: 73,172,715 (GRCm39) Y248H possibly damaging Het
Drd5 A T 5: 38,477,366 (GRCm39) M120L probably damaging Het
Duox1 A G 2: 122,158,403 (GRCm39) R629G probably benign Het
Dyrk1b A G 7: 27,884,521 (GRCm39) Y279C probably damaging Het
Efemp1 A T 11: 28,864,590 (GRCm39) I215L probably benign Het
Enpp6 C A 8: 47,518,486 (GRCm39) Q205K probably damaging Het
Fam170a A T 18: 50,415,193 (GRCm39) T280S probably benign Het
Fam222a G A 5: 114,749,127 (GRCm39) A108T possibly damaging Het
Fgd3 G T 13: 49,449,854 (GRCm39) P132T probably benign Het
Fzr1 A T 10: 81,203,362 (GRCm39) L399H probably damaging Het
Galnt15 G A 14: 31,771,822 (GRCm39) R289Q probably damaging Het
Hira T C 16: 18,770,865 (GRCm39) V834A probably damaging Het
Ilf3 T C 9: 21,300,679 (GRCm39) L93P probably damaging Het
Itgae G A 11: 73,001,382 (GRCm39) R71Q probably benign Het
Itprid1 T C 6: 55,944,991 (GRCm39) S571P probably benign Het
Kif14 T A 1: 136,431,145 (GRCm39) S1181T probably benign Het
Lrig3 C A 10: 125,849,020 (GRCm39) P946Q possibly damaging Het
Macf1 A T 4: 123,369,738 (GRCm39) C1674* probably null Het
Malt1 A G 18: 65,609,126 (GRCm39) K710R probably benign Het
Man1a2 A T 3: 100,524,328 (GRCm39) N373K probably benign Het
Mpped2 A G 2: 106,529,847 (GRCm39) N32S possibly damaging Het
Mrtfb A C 16: 13,219,456 (GRCm39) T701P probably benign Het
Myh10 A T 11: 68,674,021 (GRCm39) T652S probably damaging Het
Nfia A G 4: 97,999,462 (GRCm39) Y485C probably damaging Het
Olfml2b A T 1: 170,496,433 (GRCm39) T355S probably benign Het
Or10q3 A T 19: 11,847,995 (GRCm39) I195K probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh1 A T 18: 38,331,971 (GRCm39) V344D probably damaging Het
Plekhn1 C A 4: 156,314,984 (GRCm39) V558L probably benign Het
Prr14l A G 5: 32,987,591 (GRCm39) S635P possibly damaging Het
Prss46 T A 9: 110,680,543 (GRCm39) C229* probably null Het
Rad50 A G 11: 53,589,647 (GRCm39) probably null Het
Slc27a3 A T 3: 90,296,526 (GRCm39) L191Q probably benign Het
Surf4 A G 2: 26,823,778 (GRCm39) probably benign Het
Taf3 A G 2: 9,956,995 (GRCm39) S391P probably damaging Het
Tep1 A C 14: 51,105,567 (GRCm39) L151R probably benign Het
Tmprss11d A C 5: 86,457,214 (GRCm39) N148K possibly damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Vmn2r77 A G 7: 86,460,846 (GRCm39) D724G probably damaging Het
Wdr75 T A 1: 45,862,519 (GRCm39) D779E probably benign Het
Zfp943 A T 17: 22,211,794 (GRCm39) K293N probably damaging 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
R1645:Cby2 UTSW 14 75,821,089 (GRCm39) missense probably benign 0.12
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
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'- AGATCTTGTTCTCCTTGCGG -3'
(R):5'- TGAGGCTCCACAACCTGTAC -3'

Sequencing Primer
(F):5'- GGAGGGCCTTGTTCTCATCC -3'
(R):5'- AACCTGTACAGTACTCCTCGCTG -3'
Posted On 2016-07-06