Incidental Mutation 'R4793:Abi2'
ID 368727
Institutional Source Beutler Lab
Gene Symbol Abi2
Ensembl Gene ENSMUSG00000026782
Gene Name abl interactor 2
Synonyms 8430425M24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4793 (G1)
Quality Score 141
Status Validated
Chromosome 1
Chromosomal Location 60448778-60520317 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 60448963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000140522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000188618] [ENSMUST00000189082] [ENSMUST00000189980]
AlphaFold P62484
Predicted Effect probably null
Transcript: ENSMUST00000052332
AA Change: M1K

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: M1K

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 null
Transcript: ENSMUST00000187709
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: M1K

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 null
Transcript: ENSMUST00000188594
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: M1K

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 probably null
Transcript: ENSMUST00000188618
AA Change: M1K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: M1K

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 null
Transcript: ENSMUST00000189082
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782
AA Change: M1K

DomainStartEndE-ValueType
Pfam:Abi_HHR 38 115 5.8e-34 PFAM
low complexity region 116 129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191493
Predicted Effect probably null
Transcript: ENSMUST00000189980
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: M1K

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
Meta Mutation Damage Score 0.9704 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (91/91)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,082,544 (GRCm39) E1143V probably benign Het
Acp2 T C 2: 91,037,134 (GRCm39) F205L probably benign Het
Adam17 T C 12: 21,397,396 (GRCm39) N219D probably benign Het
Aldh2 T C 5: 121,707,042 (GRCm39) S168G probably damaging Het
Arhgap15 A T 2: 44,032,353 (GRCm39) E312D probably damaging Het
Calm5 T C 13: 3,904,401 (GRCm39) S32P probably benign Het
Capn12 G A 7: 28,592,094 (GRCm39) D671N probably benign Het
Ccdc73 A G 2: 104,848,127 (GRCm39) probably null Het
Cdc20 T A 4: 118,294,261 (GRCm39) I20F probably benign Het
Cdh23 A T 10: 60,167,129 (GRCm39) I1841N probably damaging Het
Cftr T C 6: 18,226,087 (GRCm39) V345A probably damaging Het
Col15a1 T C 4: 47,262,997 (GRCm39) S550P possibly damaging Het
Col4a4 A G 1: 82,516,820 (GRCm39) Y133H unknown Het
Csmd1 A G 8: 16,138,277 (GRCm39) S1592P probably damaging Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dock5 A G 14: 68,037,803 (GRCm39) S947P probably benign Het
Dpysl2 G T 14: 67,052,498 (GRCm39) A339D possibly damaging Het
Ebf2 A G 14: 67,647,531 (GRCm39) D360G probably damaging Het
Ensa T C 3: 95,532,489 (GRCm39) probably null Het
Fap C A 2: 62,374,713 (GRCm39) V229F probably damaging Het
Fbn1 C A 2: 125,163,155 (GRCm39) G2116* probably null Het
Frmd4b A T 6: 97,272,822 (GRCm39) S857T probably damaging Het
Fsip2 T A 2: 82,818,044 (GRCm39) Y4592* probably null Het
Fubp1 T A 3: 151,928,966 (GRCm39) Y135N possibly damaging Het
Gdap2 T C 3: 100,078,234 (GRCm39) L66P probably damaging Het
Gm10257 T C 13: 101,083,305 (GRCm39) noncoding transcript Het
Gm1758 A T 16: 14,325,036 (GRCm39) noncoding transcript Het
Gna13 T C 11: 109,254,455 (GRCm39) probably benign Het
H2bc13 T C 13: 21,900,088 (GRCm39) S76G probably benign Het
Heatr1 T C 13: 12,446,718 (GRCm39) I1689T probably benign Het
Hephl1 A G 9: 15,009,286 (GRCm39) I102T probably benign Het
Hltf T G 3: 20,118,114 (GRCm39) Y121D possibly damaging Het
Hspg2 T C 4: 137,256,784 (GRCm39) V1509A possibly damaging Het
Ifitm5 G T 7: 140,530,077 (GRCm39) R16S probably benign Het
Il1rap A C 16: 26,513,984 (GRCm39) D239A probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcna6 T C 6: 126,715,519 (GRCm39) I457V probably damaging Het
Kctd17 T A 15: 78,317,224 (GRCm39) L47Q probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc63 A G 14: 75,363,601 (GRCm39) S177P possibly damaging Het
Lrriq1 T C 10: 103,006,327 (GRCm39) D1266G probably benign Het
Map3k2 G T 18: 32,361,203 (GRCm39) M554I probably damaging Het
Mst1r T A 9: 107,797,124 (GRCm39) V1331E probably damaging Het
Musk T C 4: 58,373,400 (GRCm39) I775T probably damaging Het
Mybl2 A G 2: 162,916,683 (GRCm39) K7E probably damaging Het
Nf1 T C 11: 79,338,398 (GRCm39) S1137P probably damaging Het
Nlrp5 A G 7: 23,117,055 (GRCm39) I260V probably damaging Het
Or13c7 A T 4: 43,854,323 (GRCm39) N5Y probably benign Het
Or9g4 A C 2: 85,504,842 (GRCm39) Y218D probably damaging Het
Or9s23 G T 1: 92,501,207 (GRCm39) A105S possibly damaging Het
Pabpc1l C T 2: 163,869,542 (GRCm39) A114V possibly damaging Het
Plac8l1 T A 18: 42,311,973 (GRCm39) I149F possibly damaging Het
Pou6f1 T A 15: 100,476,293 (GRCm39) N531I probably damaging Het
Prdm10 A G 9: 31,264,701 (GRCm39) Y712C probably damaging Het
Ptbp3 T C 4: 59,514,297 (GRCm39) T43A possibly damaging Het
Ptpn13 T C 5: 103,730,644 (GRCm39) probably null Het
Rnf135 T C 11: 80,087,775 (GRCm39) probably null Het
Rusf1 A T 7: 127,887,374 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,005,951 (GRCm39) L379P probably damaging Het
Sh2d6 T A 6: 72,494,581 (GRCm39) T124S probably benign Het
Slc26a5 G A 5: 22,042,992 (GRCm39) P153S probably damaging Het
Slc5a7 A G 17: 54,588,822 (GRCm39) F275S possibly damaging Het
Snx14 A G 9: 88,276,495 (GRCm39) S606P probably damaging Het
Sphkap A T 1: 83,255,805 (GRCm39) I648K possibly damaging Het
Spon2 T C 5: 33,371,904 (GRCm39) T301A probably damaging Het
Srpra C T 9: 35,124,447 (GRCm39) T48I probably benign Het
Taar9 G A 10: 23,985,408 (GRCm39) P9S probably benign Het
Tacc1 A T 8: 25,672,405 (GRCm39) S274R possibly damaging Het
Tc2n A G 12: 101,617,376 (GRCm39) S348P possibly damaging Het
Timd2 G T 11: 46,578,008 (GRCm39) T41K probably damaging Het
Tmem132a T A 19: 10,842,857 (GRCm39) E206V probably damaging Het
Tmt1a3 A G 15: 100,232,889 (GRCm39) M27V probably benign Het
Tpi1 A T 6: 124,789,544 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,765 (GRCm39) T429P probably benign Het
Trav4-3 A G 14: 53,836,615 (GRCm39) S27G possibly damaging Het
Tubd1 T C 11: 86,457,895 (GRCm39) M462T probably benign Het
Ube4a T C 9: 44,860,120 (GRCm39) D314G probably damaging Het
Utp25 T A 1: 192,796,116 (GRCm39) Q50L probably null Het
Vmn2r58 G T 7: 41,514,495 (GRCm39) T158K probably damaging Het
Vmn2r68 C A 7: 84,883,648 (GRCm39) M152I probably benign Het
Vmn2r91 A G 17: 18,325,658 (GRCm39) E92G probably damaging Het
Wdr20rt T C 12: 65,273,395 (GRCm39) V113A probably damaging Het
Zfp729a T C 13: 67,768,546 (GRCm39) H561R probably damaging Het
Zfp804a T A 2: 82,066,186 (GRCm39) D52E 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
R5110:Abi2 UTSW 1 60,489,280 (GRCm39) missense probably benign 0.00
R5557:Abi2 UTSW 1 60,478,071 (GRCm39) unclassified probably benign
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'- CTAGGAGACGCCGGAAGTG -3'
(R):5'- TCCGGAACACTGACAGGAGAG -3'

Sequencing Primer
(F):5'- GGAATCTTTTTCGGGCGC -3'
(R):5'- CACTGACAGGAGAGGACTGC -3'
Posted On 2016-02-04