Incidental Mutation 'R9576:Abi2'
ID 722259
Institutional Source Beutler Lab
Gene Symbol Abi2
Ensembl Gene ENSMUSG00000026782
Gene Name abl interactor 2
Synonyms 8430425M24Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9576 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 60448778-60520317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 60449008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 16 (R16L)
Ref Sequence ENSEMBL: ENSMUSP00000140274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000188618] [ENSMUST00000189082] [ENSMUST00000189980]
AlphaFold P62484
Predicted Effect probably benign
Transcript: ENSMUST00000052332
AA Change: R16L

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: R16L

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 possibly damaging
Transcript: ENSMUST00000187709
AA Change: R16L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: R16L

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 damaging
Transcript: ENSMUST00000188594
AA Change: R16L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: R16L

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 possibly damaging
Transcript: ENSMUST00000188618
AA Change: R16L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: R16L

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
AA Change: R16L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782
AA Change: R16L

DomainStartEndE-ValueType
Pfam:Abi_HHR 38 115 5.8e-34 PFAM
low complexity region 116 129 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189980
AA Change: R16L

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: R16L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,947,843 (GRCm39) I580N probably benign Het
Aars1 T A 8: 111,768,296 (GRCm39) Y222* probably null Het
Adam9 C A 8: 25,445,953 (GRCm39) V814F probably benign Het
Adgrv1 T C 13: 81,691,608 (GRCm39) T1660A probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arhgap26 T A 18: 39,253,207 (GRCm39) Y211* probably null Het
Ascc3 T C 10: 50,494,254 (GRCm39) Y230H possibly damaging Het
Btg4 C A 9: 51,030,436 (GRCm39) Q179K probably damaging Het
Ccdc150 G T 1: 54,407,544 (GRCm39) E1107* probably null Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Cd200r4 A G 16: 44,658,338 (GRCm39) T241A Het
Chd9 T A 8: 91,659,294 (GRCm39) S85T unknown Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Col6a4 C A 9: 105,945,271 (GRCm39) A948S probably benign Het
Crygb T C 1: 65,119,686 (GRCm39) D98G probably benign Het
Ctbp2 A T 7: 132,616,198 (GRCm39) S246T probably benign Het
Dcp1b T A 6: 119,196,993 (GRCm39) Y563* probably null Het
Ddx59 T A 1: 136,344,681 (GRCm39) Y117* probably null Het
Dhx30 A G 9: 109,916,712 (GRCm39) L601P probably damaging Het
Dnah5 C T 15: 28,272,286 (GRCm39) T1030M probably benign Het
Dpp10 A G 1: 123,269,409 (GRCm39) S667P probably damaging Het
Epha7 G A 4: 28,870,659 (GRCm39) C312Y probably damaging Het
Gbf1 A T 19: 46,248,122 (GRCm39) T300S probably benign Het
Glp2r T C 11: 67,655,622 (GRCm39) K40R probably benign Het
H2-Q5 G A 17: 35,613,413 (GRCm39) V49M Het
Havcr1 T A 11: 46,669,391 (GRCm39) V290E probably benign Het
Hc T A 2: 34,873,767 (GRCm39) T1656S probably benign Het
Hfm1 A T 5: 107,021,938 (GRCm39) I999N probably benign Het
Hoxc4 A T 15: 102,944,384 (GRCm39) E254V probably benign Het
Il5ra T C 6: 106,712,688 (GRCm39) N275S probably damaging Het
Itfg2 C A 6: 128,389,950 (GRCm39) A272S probably benign Het
Itpr2 A T 6: 146,212,505 (GRCm39) I1537N probably damaging Het
Jakmip3 A G 7: 138,621,988 (GRCm39) E296G probably damaging Het
Jchain T G 5: 88,673,976 (GRCm39) E56A probably damaging Het
Kcnh5 A T 12: 74,944,307 (GRCm39) S981T probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Klk1b4 A T 7: 43,860,477 (GRCm39) D165V probably benign Het
Krt1c T A 15: 101,719,792 (GRCm39) Y626F unknown Het
Lrrk2 T A 15: 91,636,388 (GRCm39) L1454* probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo18a T A 11: 77,709,827 (GRCm39) I607N probably damaging Het
Nefh C T 11: 4,891,222 (GRCm39) E466K possibly damaging Het
Nudc T C 4: 133,262,989 (GRCm39) E118G probably benign Het
Or2aj6 A T 16: 19,442,961 (GRCm39) D296E probably damaging Het
Or56a3 T C 7: 104,735,760 (GRCm39) L279S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Per1 T A 11: 68,998,855 (GRCm39) M1142K probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Plec C A 15: 76,115,377 (GRCm39) A66S probably benign Het
Plekha7 T C 7: 115,728,669 (GRCm39) Y1199C possibly damaging Het
Pou2f2 C A 7: 24,796,569 (GRCm39) A302S probably benign Het
Prkag3 A T 1: 74,787,082 (GRCm39) W59R Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Serpina3i A G 12: 104,234,730 (GRCm39) T354A probably benign Het
Skap1 T C 11: 96,472,030 (GRCm39) F101S probably benign Het
Slc16a8 T A 15: 79,136,182 (GRCm39) Q340L probably damaging Het
Slc2a12 A T 10: 22,578,004 (GRCm39) Q600L possibly damaging Het
Slc39a14 T G 14: 70,556,235 (GRCm39) D47A probably benign Het
Slfn9 T A 11: 82,878,211 (GRCm39) Y306F possibly damaging Het
Sos1 T C 17: 80,742,367 (GRCm39) M387V probably benign Het
Srl A T 16: 4,301,031 (GRCm39) L680Q probably damaging Het
Tas1r3 C T 4: 155,946,822 (GRCm39) R261H probably benign Het
Tm7sf3 C A 6: 146,511,335 (GRCm39) G385W probably damaging Het
Tmem191 C T 16: 17,094,526 (GRCm39) R62* probably null Het
Triobp T C 15: 78,844,266 (GRCm39) S161P probably damaging Het
Usp13 A T 3: 32,969,135 (GRCm39) probably null Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r230 C A 17: 21,067,163 (GRCm39) C117* probably null Het
Vmn2r50 T C 7: 9,771,190 (GRCm39) Q837R probably benign Het
Zfp618 T C 4: 63,051,282 (GRCm39) S688P probably benign 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
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
Z1177:Abi2 UTSW 1 60,476,324 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGGAGACGCCGGAAGTG -3'
(R):5'- AACACTGACAGGAGAGGACT -3'

Sequencing Primer
(F):5'- GGAATCTTTTTCGGGCGC -3'
(R):5'- CACCGGTCACTCGCACG -3'
Posted On 2022-08-09