Incidental Mutation 'R8540:Aebp2'
ID 659362
Institutional Source Beutler Lab
Gene Symbol Aebp2
Ensembl Gene ENSMUSG00000030232
Gene Name AE binding protein 2
Synonyms B230313N05Rik
MMRRC Submission 068506-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8540 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 140568389-140624198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140579437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 225 (I225L)
Ref Sequence ENSEMBL: ENSMUSP00000092993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032359] [ENSMUST00000087614] [ENSMUST00000095350] [ENSMUST00000160836] [ENSMUST00000161335]
AlphaFold Q9Z248
Predicted Effect probably benign
Transcript: ENSMUST00000032359
AA Change: I3L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: I3L

DomainStartEndE-ValueType
ZnF_C2H2 32 57 1.26e-2 SMART
ZnF_C2H2 66 93 5.92e0 SMART
ZnF_C2H2 99 123 2.2e-2 SMART
low complexity region 149 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087614
AA Change: I225L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: I225L

DomainStartEndE-ValueType
low complexity region 1 71 N/A INTRINSIC
low complexity region 81 124 N/A INTRINSIC
low complexity region 128 199 N/A INTRINSIC
ZnF_C2H2 254 279 1.26e-2 SMART
ZnF_C2H2 288 315 5.92e0 SMART
ZnF_C2H2 321 345 2.2e-2 SMART
low complexity region 371 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095350
AA Change: I225L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: I225L

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
ZnF_C2H2 77 102 1.26e-2 SMART
ZnF_C2H2 111 138 5.92e0 SMART
ZnF_C2H2 144 168 2.2e-2 SMART
low complexity region 194 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160836
AA Change: I3L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: I3L

DomainStartEndE-ValueType
ZnF_C2H2 32 57 1.26e-2 SMART
ZnF_C2H2 66 93 5.92e0 SMART
ZnF_C2H2 99 123 2.2e-2 SMART
low complexity region 149 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161335
AA Change: I3L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: I3L

DomainStartEndE-ValueType
ZnF_C2H2 32 57 1.26e-2 SMART
ZnF_C2H2 66 93 5.92e0 SMART
ZnF_C2H2 99 123 2.2e-2 SMART
low complexity region 149 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162903
SMART Domains Protein: ENSMUSP00000123897
Gene: ENSMUSG00000030232

DomainStartEndE-ValueType
ZnF_C2H2 2 26 2.2e-2 SMART
low complexity region 52 68 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (37/37)
MGI Phenotype PHENOTYPE: Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a1 C A 7: 44,553,750 (GRCm39) G566C probably damaging Het
Cdk15 T C 1: 59,349,992 (GRCm39) V328A possibly damaging Het
Cyld G A 8: 89,473,568 (GRCm39) G929D probably damaging Het
Ddx50 G A 10: 62,476,569 (GRCm39) L235F possibly damaging Het
Dlg5 T C 14: 24,208,767 (GRCm39) D813G probably damaging Het
Epb41l3 C T 17: 69,593,757 (GRCm39) T797M probably damaging Het
Foxred2 G A 15: 77,836,212 (GRCm39) R382W probably damaging Het
Gm5798 T A 14: 41,070,674 (GRCm39) I28N possibly damaging Het
Grb14 C T 2: 64,851,478 (GRCm39) V91M probably benign Het
Ints6 T C 14: 62,934,353 (GRCm39) D718G probably benign Het
Man2a1 C A 17: 64,965,982 (GRCm39) H307N probably benign Het
Mylk T C 16: 34,750,257 (GRCm39) Y1199H possibly damaging Het
Nim1k T C 13: 120,175,718 (GRCm39) S163G probably benign Het
Or1r1 A G 11: 73,875,153 (GRCm39) F94L probably damaging Het
Or51f5 G C 7: 102,424,339 (GRCm39) A203P possibly damaging Het
Or5ac16 A T 16: 59,022,323 (GRCm39) H155Q possibly damaging Het
Or8h6 C A 2: 86,703,776 (GRCm39) C97F probably damaging Het
Phyhip A G 14: 70,704,594 (GRCm39) D271G probably benign Het
Pramel27 T A 4: 143,579,496 (GRCm39) S360R probably benign Het
Pycr2 G A 1: 180,734,178 (GRCm39) A187T possibly damaging Het
Ryr3 T A 2: 112,630,367 (GRCm39) E2148V probably damaging Het
Septin12 T C 16: 4,805,481 (GRCm39) H304R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssx2ip T C 3: 146,124,114 (GRCm39) V43A probably benign Het
Syne2 A T 12: 76,141,148 (GRCm39) N6087Y probably damaging Het
Tbc1d4 A T 14: 101,845,712 (GRCm39) I62N probably damaging Het
Ttn C T 2: 76,573,337 (GRCm39) G24106D probably damaging Het
Uhrf1 T A 17: 56,612,105 (GRCm39) I3N probably damaging Het
Urgcp A C 11: 5,667,915 (GRCm39) L141R probably damaging Het
Ush2a G A 1: 188,274,858 (GRCm39) R1777H probably benign Het
Vamp3 A G 4: 151,135,507 (GRCm39) V37A possibly damaging Het
Vmn1r172 C T 7: 23,359,498 (GRCm39) L128F possibly damaging Het
Vmn1r76 A G 7: 11,664,897 (GRCm39) Y71H probably damaging Het
Vmn2r111 C T 17: 22,778,023 (GRCm39) probably null Het
Vmn2r111 T A 17: 22,778,024 (GRCm39) N552Y probably damaging Het
Vmn2r81 A T 10: 79,129,065 (GRCm39) N652I probably damaging Het
Vmn2r87 T C 10: 130,314,762 (GRCm39) N275D possibly damaging Het
Wrn T A 8: 33,842,154 (GRCm39) I47F probably damaging Het
Other mutations in Aebp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Aebp2 APN 6 140,587,980 (GRCm39) missense probably benign 0.29
IGL01935:Aebp2 APN 6 140,583,383 (GRCm39) unclassified probably benign
IGL02149:Aebp2 APN 6 140,588,010 (GRCm39) missense probably benign 0.06
Amazonian UTSW 6 140,587,954 (GRCm39) missense probably damaging 1.00
Floral UTSW 6 140,583,456 (GRCm39) missense possibly damaging 0.90
Herbal UTSW 6 140,583,389 (GRCm39) missense possibly damaging 0.91
Medicinal UTSW 6 140,583,452 (GRCm39) nonsense probably null
PIT4453001:Aebp2 UTSW 6 140,583,412 (GRCm39) nonsense probably null
R0030:Aebp2 UTSW 6 140,583,473 (GRCm39) missense probably damaging 0.99
R0091:Aebp2 UTSW 6 140,589,800 (GRCm39) critical splice donor site probably null
R0744:Aebp2 UTSW 6 140,588,090 (GRCm39) splice site probably null
R1603:Aebp2 UTSW 6 140,587,979 (GRCm39) missense probably damaging 0.98
R1990:Aebp2 UTSW 6 140,579,464 (GRCm39) missense probably damaging 1.00
R2073:Aebp2 UTSW 6 140,579,420 (GRCm39) missense probably benign 0.41
R2075:Aebp2 UTSW 6 140,579,420 (GRCm39) missense probably benign 0.41
R2971:Aebp2 UTSW 6 140,579,624 (GRCm39) critical splice donor site probably null
R3805:Aebp2 UTSW 6 140,589,675 (GRCm39) frame shift probably null
R3911:Aebp2 UTSW 6 140,593,707 (GRCm39) missense probably damaging 1.00
R3921:Aebp2 UTSW 6 140,579,461 (GRCm39) missense probably damaging 1.00
R4020:Aebp2 UTSW 6 140,588,021 (GRCm39) missense probably damaging 1.00
R4374:Aebp2 UTSW 6 140,599,984 (GRCm39) utr 3 prime probably benign
R4856:Aebp2 UTSW 6 140,589,799 (GRCm39) critical splice donor site probably null
R5022:Aebp2 UTSW 6 140,583,456 (GRCm39) missense possibly damaging 0.90
R5140:Aebp2 UTSW 6 140,579,532 (GRCm39) nonsense probably null
R5761:Aebp2 UTSW 6 140,569,943 (GRCm39) unclassified probably benign
R6983:Aebp2 UTSW 6 140,583,389 (GRCm39) missense possibly damaging 0.91
R7168:Aebp2 UTSW 6 140,579,426 (GRCm39) missense probably damaging 0.98
R7259:Aebp2 UTSW 6 140,579,494 (GRCm39) missense probably benign 0.03
R7463:Aebp2 UTSW 6 140,583,452 (GRCm39) nonsense probably null
R7556:Aebp2 UTSW 6 140,623,137 (GRCm39) missense probably benign 0.07
R7654:Aebp2 UTSW 6 140,599,474 (GRCm39) splice site probably null
R7745:Aebp2 UTSW 6 140,569,584 (GRCm39) missense unknown
R8258:Aebp2 UTSW 6 140,583,453 (GRCm39) missense possibly damaging 0.82
R8259:Aebp2 UTSW 6 140,583,453 (GRCm39) missense possibly damaging 0.82
R8540:Aebp2 UTSW 6 140,579,439 (GRCm39) missense probably benign 0.02
R9133:Aebp2 UTSW 6 140,579,441 (GRCm39) missense probably damaging 1.00
R9205:Aebp2 UTSW 6 140,587,954 (GRCm39) missense probably damaging 1.00
R9431:Aebp2 UTSW 6 140,592,594 (GRCm39) missense probably damaging 1.00
R9605:Aebp2 UTSW 6 140,593,736 (GRCm39) missense probably damaging 1.00
R9762:Aebp2 UTSW 6 140,588,021 (GRCm39) missense probably damaging 1.00
Z1177:Aebp2 UTSW 6 140,569,820 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACCCAGTTTTGTATTTGATCTTGAGG -3'
(R):5'- ACCATCGACATGTATGGAGC -3'

Sequencing Primer
(F):5'- GCCTTGTACTTTATTGCCAACTAATC -3'
(R):5'- CCATCGACATGTATGGAGCGAATG -3'
Posted On 2021-01-18