Incidental Mutation 'R5557:Abi2'
ID 435423
Institutional Source Beutler Lab
Gene Symbol Abi2
Ensembl Gene ENSMUSG00000026782
Gene Name abl interactor 2
Synonyms 8430425M24Rik
MMRRC Submission 043114-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5557 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 60448778-60520317 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 60478071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000185788] [ENSMUST00000186097] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000189980] [ENSMUST00000188618] [ENSMUST00000189082] [ENSMUST00000190158]
AlphaFold P62484
Predicted Effect probably benign
Transcript: ENSMUST00000052332
SMART Domains Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 168 1.1e-37 PFAM
low complexity region 236 262 N/A INTRINSIC
low complexity region 335 370 N/A INTRINSIC
SH3 387 442 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185788
SMART Domains Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 1 67 4.4e-25 PFAM
low complexity region 68 81 N/A INTRINSIC
low complexity region 83 115 N/A INTRINSIC
low complexity region 119 137 N/A INTRINSIC
low complexity region 249 284 N/A INTRINSIC
SH3 301 356 3.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186097
SMART Domains Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
low complexity region 95 121 N/A INTRINSIC
low complexity region 125 143 N/A INTRINSIC
low complexity region 284 319 N/A INTRINSIC
SH3 336 391 3.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187400
Predicted Effect probably benign
Transcript: ENSMUST00000187709
SMART Domains Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 165 1.8e-33 PFAM
low complexity region 166 179 N/A INTRINSIC
low complexity region 236 262 N/A INTRINSIC
low complexity region 364 399 N/A INTRINSIC
SH3 416 471 3.4e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188594
SMART Domains Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 165 1.7e-33 PFAM
low complexity region 166 179 N/A INTRINSIC
low complexity region 181 213 N/A INTRINSIC
low complexity region 217 235 N/A INTRINSIC
low complexity region 347 382 N/A INTRINSIC
SH3 399 454 3.4e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189649
Predicted Effect probably benign
Transcript: ENSMUST00000189980
SMART Domains Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 5e-37 PFAM
low complexity region 172 185 N/A INTRINSIC
low complexity region 242 268 N/A INTRINSIC
low complexity region 369 404 N/A INTRINSIC
SH3 421 476 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188618
SMART Domains Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 93 171 5.1e-37 PFAM
low complexity region 172 185 N/A INTRINSIC
low complexity region 242 268 N/A INTRINSIC
low complexity region 272 290 N/A INTRINSIC
low complexity region 402 437 N/A INTRINSIC
SH3 454 487 2.29e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189082
SMART Domains Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
Pfam:Abi_HHR 38 115 5.8e-34 PFAM
low complexity region 116 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190158
SMART Domains Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
PDB:4N78|F 88 196 5e-62 PDB
low complexity region 226 261 N/A INTRINSIC
SH3 278 333 3.4e-26 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (72/72)
MGI Phenotype PHENOTYPE: Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning. [provided by MGI curators]
Allele List at MGI

All alleles(30) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(27)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T A 19: 3,767,501 (GRCm39) F363I possibly damaging Het
Abcb1a T A 5: 8,764,949 (GRCm39) N646K probably benign Het
Adamts13 T C 2: 26,863,651 (GRCm39) S35P probably benign Het
B4galt3 A G 1: 171,100,089 (GRCm39) probably null Het
Bag5 T C 12: 111,676,524 (GRCm39) N433S probably benign Het
Birc7 T A 2: 180,574,772 (GRCm39) V218D probably benign Het
Catsperg1 T G 7: 28,895,296 (GRCm39) N332T possibly damaging Het
Ccdc191 A C 16: 43,728,976 (GRCm39) T179P probably damaging Het
Col4a3 C T 1: 82,692,968 (GRCm39) probably benign Het
Crlf1 A G 8: 70,951,317 (GRCm39) I65M probably benign Het
Dennd4a T G 9: 64,811,509 (GRCm39) D1376E probably benign Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dlg4 C T 11: 69,933,106 (GRCm39) P504L probably damaging Het
Dop1b A G 16: 93,560,819 (GRCm39) T886A probably damaging Het
Dst T A 1: 34,321,667 (GRCm39) V4394E probably damaging Het
Endov T C 11: 119,393,186 (GRCm39) M112T possibly damaging Het
Eps8 T C 6: 137,456,094 (GRCm39) M796V possibly damaging Het
Fam107b T A 2: 3,771,791 (GRCm39) Y7* probably null Het
Farsb C T 1: 78,445,888 (GRCm39) probably null Het
Fasn A G 11: 120,703,252 (GRCm39) M1591T probably benign Het
Fbn2 C T 18: 58,248,731 (GRCm39) A384T probably benign Het
Fnta T C 8: 26,489,564 (GRCm39) D349G probably damaging Het
Glis3 G T 19: 28,241,409 (GRCm39) H842N probably benign Het
Gm17067 G A 7: 42,357,945 (GRCm39) P186S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hk3 A T 13: 55,159,888 (GRCm39) L362* probably null Het
Ing3 A G 6: 21,968,908 (GRCm39) H130R possibly damaging Het
Inpp4b A T 8: 82,678,888 (GRCm39) Q306L probably damaging Het
Kcnq2 T C 2: 180,776,690 (GRCm39) K66E probably benign Het
Kif21b C A 1: 136,097,797 (GRCm39) N1352K probably damaging Het
Lrig3 A T 10: 125,808,003 (GRCm39) N84Y probably damaging Het
Mill2 T A 7: 18,589,884 (GRCm39) Y55* probably null Het
Mmachc T C 4: 116,563,097 (GRCm39) H86R probably damaging Het
Ncbp1 T C 4: 46,165,259 (GRCm39) V524A probably benign Het
Or10ag54 A T 2: 87,099,736 (GRCm39) T204S possibly damaging Het
Or1q1 T A 2: 36,887,358 (GRCm39) C179S probably damaging Het
Or4c102 G A 2: 88,422,897 (GRCm39) V250M probably damaging Het
Or5af1 G A 11: 58,722,813 (GRCm39) V278I probably benign Het
Or5b101 C A 19: 13,005,004 (GRCm39) A230S probably benign Het
Or7g19 T C 9: 18,856,466 (GRCm39) I174T possibly damaging Het
Pigu G T 2: 155,120,549 (GRCm39) Y404* probably null Het
Plaa A T 4: 94,472,244 (GRCm39) probably null Het
Plcg2 A T 8: 118,313,296 (GRCm39) I487F probably damaging Het
Plekhh2 T C 17: 84,867,580 (GRCm39) I162T probably benign Het
Ptprz1 T A 6: 23,001,000 (GRCm39) V1030D probably benign Het
Raver2 C A 4: 100,993,336 (GRCm39) S505R probably benign Het
Samd7 A T 3: 30,810,769 (GRCm39) Q262L probably benign Het
Scn9a T A 2: 66,377,447 (GRCm39) N412Y probably damaging Het
Sytl1 C A 4: 132,986,667 (GRCm39) R91M probably damaging Het
Tead3 A T 17: 28,555,244 (GRCm39) probably benign Het
Tgm1 A G 14: 55,943,100 (GRCm39) M580T probably benign Het
Themis A T 10: 28,657,882 (GRCm39) Q150L possibly damaging Het
Tmem213 T C 6: 38,086,466 (GRCm39) S41P possibly damaging Het
Tnks1bp1 T C 2: 84,894,144 (GRCm39) V695A probably damaging Het
Trim23 A T 13: 104,324,017 (GRCm39) T159S probably damaging Het
Trim66 T C 7: 109,082,944 (GRCm39) Y166C probably benign Het
Troap A T 15: 98,973,675 (GRCm39) T111S possibly damaging Het
Ttn T C 2: 76,720,734 (GRCm39) probably null Het
Tub T G 7: 108,624,925 (GRCm39) S180A probably damaging Het
Vcan A G 13: 89,851,231 (GRCm39) V1243A possibly damaging Het
Zfp608 T C 18: 55,120,942 (GRCm39) D215G possibly damaging Het
Zfp638 T A 6: 83,944,345 (GRCm39) V1021E probably damaging Het
Zim1 T A 7: 6,680,710 (GRCm39) I318F probably damaging Het
Other mutations in Abi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Abi2 APN 1 60,486,505 (GRCm39) missense probably damaging 1.00
IGL01369:Abi2 APN 1 60,476,215 (GRCm39) missense probably damaging 1.00
IGL02028:Abi2 APN 1 60,473,442 (GRCm39) missense probably damaging 1.00
IGL02074:Abi2 APN 1 60,486,466 (GRCm39) missense probably damaging 1.00
IGL02897:Abi2 APN 1 60,487,353 (GRCm39) missense probably damaging 0.96
IGL02957:Abi2 APN 1 60,509,945 (GRCm39) missense probably damaging 1.00
1mM(1):Abi2 UTSW 1 60,476,216 (GRCm39) missense probably damaging 1.00
P0026:Abi2 UTSW 1 60,492,882 (GRCm39) missense probably benign 0.42
R0062:Abi2 UTSW 1 60,492,884 (GRCm39) missense probably benign 0.42
R0062:Abi2 UTSW 1 60,492,884 (GRCm39) missense probably benign 0.42
R3946:Abi2 UTSW 1 60,492,913 (GRCm39) missense probably damaging 1.00
R4793:Abi2 UTSW 1 60,448,963 (GRCm39) start codon destroyed probably null 1.00
R5110:Abi2 UTSW 1 60,489,280 (GRCm39) missense probably benign 0.00
R6037:Abi2 UTSW 1 60,503,738 (GRCm39) missense probably damaging 1.00
R6037:Abi2 UTSW 1 60,503,738 (GRCm39) missense probably damaging 1.00
R6368:Abi2 UTSW 1 60,492,810 (GRCm39) missense possibly damaging 0.82
R6481:Abi2 UTSW 1 60,478,098 (GRCm39) splice site probably null
R7393:Abi2 UTSW 1 60,473,541 (GRCm39) missense possibly damaging 0.92
R7460:Abi2 UTSW 1 60,473,466 (GRCm39) missense probably damaging 1.00
R7573:Abi2 UTSW 1 60,509,867 (GRCm39) missense probably benign 0.37
R7744:Abi2 UTSW 1 60,476,362 (GRCm39) missense probably benign 0.00
R8843:Abi2 UTSW 1 60,492,888 (GRCm39) missense probably null
R8988:Abi2 UTSW 1 60,489,251 (GRCm39) missense probably benign 0.08
R9464:Abi2 UTSW 1 60,478,100 (GRCm39) critical splice acceptor site probably null
R9528:Abi2 UTSW 1 60,473,453 (GRCm39) missense probably damaging 0.99
R9569:Abi2 UTSW 1 60,503,763 (GRCm39) missense probably damaging 0.97
R9576:Abi2 UTSW 1 60,449,008 (GRCm39) missense possibly damaging 0.68
Z1177:Abi2 UTSW 1 60,476,324 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATATCATCAACGAAACTTCTGTCC -3'
(R):5'- AGCATATTAGTTGGCCCTCC -3'

Sequencing Primer
(F):5'- GAAACTTCTGTCCATGACACATCTG -3'
(R):5'- TGGTACTGTTCTAGGCACAAAG -3'
Posted On 2016-10-24