Incidental Mutation 'R5901:Ankra2'
ID456341
Institutional Source Beutler Lab
Gene Symbol Ankra2
Ensembl Gene ENSMUSG00000021661
Gene Nameankyrin repeat, family A (RFXANK-like), 2
Synonyms
MMRRC Submission 043239-MU
Accession Numbers

Ncbi RefSeq: NM_001271388.1, NM_001271389.1, NM_001271390.1, NM_023472.2, NM_001271391.1, NM_001271392.1; MGI: 1915808

Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock #R5901 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location98263074-98274754 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98271136 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 38 (E38G)
Ref Sequence ENSEMBL: ENSMUSP00000153417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022164] [ENSMUST00000091356] [ENSMUST00000123924] [ENSMUST00000150352] [ENSMUST00000150916] [ENSMUST00000226100]
Predicted Effect probably damaging
Transcript: ENSMUST00000022164
AA Change: E198G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022164
Gene: ENSMUSG00000021661
AA Change: E198G

DomainStartEndE-ValueType
ANK 180 209 1.45e-6 SMART
ANK 213 242 1.05e-3 SMART
ANK 246 275 1.76e-5 SMART
Blast:ANK 279 308 1e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000091356
AA Change: E38G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088915
Gene: ENSMUSG00000021661
AA Change: E38G

DomainStartEndE-ValueType
ANK 20 49 1.45e-6 SMART
ANK 53 82 1.05e-3 SMART
ANK 86 115 1.76e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123924
AA Change: E198G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122701
Gene: ENSMUSG00000021661
AA Change: E198G

DomainStartEndE-ValueType
ANK 180 209 1.45e-6 SMART
ANK 213 242 1.05e-3 SMART
ANK 246 275 1.76e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150352
AA Change: E198G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117508
Gene: ENSMUSG00000021661
AA Change: E198G

DomainStartEndE-ValueType
ANK 180 209 1.45e-6 SMART
ANK 213 242 1.05e-3 SMART
ANK 246 275 1.76e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150916
AA Change: E38G

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116590
Gene: ENSMUSG00000021661
AA Change: E38G

DomainStartEndE-ValueType
ANK 20 49 1.45e-6 SMART
ANK 53 82 1.05e-3 SMART
ANK 86 115 1.76e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223606
Predicted Effect probably damaging
Transcript: ENSMUST00000226100
AA Change: E38G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik T A 11: 99,837,337 S227C unknown Het
Acyp2 C T 11: 30,506,354 E98K possibly damaging Het
Adamts15 C T 9: 30,902,490 R793H probably damaging Het
Aqp8 G A 7: 123,462,584 C8Y probably damaging Het
Atg9b A G 5: 24,392,019 probably benign Het
Atp6v1b1 A G 6: 83,758,357 E469G possibly damaging Het
B4gat1 T A 19: 5,039,213 Y79* probably null Het
BB019430 T A 10: 58,704,192 noncoding transcript Het
Calhm3 T C 19: 47,157,613 Y51C probably damaging Het
Ccr2 C T 9: 124,106,202 T173I possibly damaging Het
Cfap43 T C 19: 47,897,099 D359G probably damaging Het
Dopey2 A G 16: 93,769,751 E1022G possibly damaging Het
Drd2 T A 9: 49,406,959 C400* probably null Het
Efcab7 T A 4: 99,909,744 H495Q probably damaging Het
Faim T C 9: 98,992,142 V29A probably benign Het
Fancd2 T C 6: 113,549,365 S350P probably damaging Het
Fbxw16 T C 9: 109,441,217 E152G probably benign Het
Kif17 T C 4: 138,298,332 probably null Het
Kif24 A T 4: 41,428,604 S119T probably damaging Het
Ly6k A T 15: 74,798,580 S38T probably benign Het
Mapk10 A G 5: 102,913,292 S430P probably damaging Het
Megf10 G A 18: 57,277,108 A654T probably benign Het
Mlph T C 1: 90,939,814 L450P probably damaging Het
Otof T C 5: 30,374,979 D1603G probably damaging Het
Pdcd11 T C 19: 47,128,332 S1580P possibly damaging Het
Rad54b G A 4: 11,595,919 R232H possibly damaging Het
Sar1b C T 11: 51,779,749 T40I possibly damaging Het
Scyl2 C T 10: 89,660,262 S242N probably benign Het
Sema4b A G 7: 80,224,967 N702D possibly damaging Het
Slc16a11 A G 11: 70,216,346 I394V probably benign Het
Stard9 A C 2: 120,701,370 T2703P probably damaging Het
Stat5b A T 11: 100,804,907 L83Q possibly damaging Het
Tas2r119 T A 15: 32,177,786 V166D possibly damaging Het
Tmem117 T A 15: 94,714,958 I125N probably benign Het
Tmem39a T C 16: 38,573,206 I89T probably benign Het
Ubr4 T A 4: 139,451,254 H3272Q probably damaging Het
Vmn1r7 T C 6: 57,024,606 E223G probably damaging Het
Vmn2r78 T C 7: 86,954,588 V658A probably damaging Het
Xirp2 A T 2: 67,513,066 T1884S possibly damaging Het
Xkr4 A T 1: 3,216,678 F430I probably damaging Het
Yae1d1 A G 13: 17,989,615 M1T probably null Het
Zfand4 T C 6: 116,288,123 V183A probably damaging Het
Other mutations in Ankra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Ankra2 APN 13 98273374 splice site probably benign
IGL02807:Ankra2 APN 13 98271742 missense probably damaging 1.00
IGL03030:Ankra2 APN 13 98273373 splice site probably benign
R0068:Ankra2 UTSW 13 98273383 nonsense probably null
R0068:Ankra2 UTSW 13 98273383 nonsense probably null
R0302:Ankra2 UTSW 13 98271692 missense probably damaging 1.00
R0499:Ankra2 UTSW 13 98266454 missense probably damaging 1.00
R0729:Ankra2 UTSW 13 98271727 missense probably damaging 1.00
R1848:Ankra2 UTSW 13 98271124 missense probably damaging 1.00
R2185:Ankra2 UTSW 13 98266404 missense probably damaging 0.99
R2230:Ankra2 UTSW 13 98271138 missense probably damaging 0.99
R2232:Ankra2 UTSW 13 98271138 missense probably damaging 0.99
R3898:Ankra2 UTSW 13 98273809 missense probably benign 0.13
R4605:Ankra2 UTSW 13 98266234 intron probably benign
R4855:Ankra2 UTSW 13 98273411 missense probably damaging 1.00
R5806:Ankra2 UTSW 13 98268497 critical splice donor site probably null
R6478:Ankra2 UTSW 13 98268442 missense probably damaging 1.00
R7469:Ankra2 UTSW 13 98266374 missense probably benign 0.01
Z1177:Ankra2 UTSW 13 98272277 missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TCAGCAAACGAAATTCAGCCTG -3'
(R):5'- TTTCACGTGGGATTCCATTGC -3'

Sequencing Primer
(F):5'- AGCCTGTTGAACTTCACTGAG -3'
(R):5'- GGATTCCATTGCTTTCCTGGCTAG -3'
Posted On2017-02-15