Incidental Mutation 'R0091:Aebp2'
ID 20203
Institutional Source Beutler Lab
Gene Symbol Aebp2
Ensembl Gene ENSMUSG00000030232
Gene Name AE binding protein 2
Synonyms B230313N05Rik
MMRRC Submission 038378-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0091 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 140568389-140624198 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 140589800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032359] [ENSMUST00000087614] [ENSMUST00000095350] [ENSMUST00000160836] [ENSMUST00000161335]
AlphaFold Q9Z248
Predicted Effect probably null
Transcript: ENSMUST00000032359
SMART Domains Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232

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 null
Transcript: ENSMUST00000068583
SMART Domains Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232

DomainStartEndE-ValueType
ZnF_C2H2 53 78 1.26e-2 SMART
ZnF_C2H2 87 114 5.92e0 SMART
ZnF_C2H2 120 144 2.2e-2 SMART
low complexity region 170 186 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000087614
SMART Domains Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232

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 null
Transcript: ENSMUST00000095350
SMART Domains Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232

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 null
Transcript: ENSMUST00000159979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160772
Predicted Effect probably null
Transcript: ENSMUST00000160836
SMART Domains Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232

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 null
Transcript: ENSMUST00000161335
SMART Domains Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232

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 noncoding transcript
Transcript: ENSMUST00000162100
Predicted Effect probably null
Transcript: ENSMUST00000162669
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9500 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.4%
  • 20x: 84.5%
Validation Efficiency 98% (86/88)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,932,179 (GRCm39) S278P possibly damaging Het
Adam11 A G 11: 102,663,665 (GRCm39) Y281C probably damaging Het
Adam6a G T 12: 113,507,849 (GRCm39) R74L possibly damaging Het
Adcy5 T C 16: 35,091,368 (GRCm39) probably null Het
Adrb2 A G 18: 62,312,090 (GRCm39) L245P probably benign Het
Arhgap23 A G 11: 97,343,070 (GRCm39) T240A probably benign Het
Atp10a T C 7: 58,423,794 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,274,213 (GRCm39) Y416F probably damaging Het
Atp5mc2 A C 15: 102,571,492 (GRCm39) L133R probably damaging Het
Bicral A T 17: 47,136,233 (GRCm39) Y326N probably damaging Het
Chst4 T C 8: 110,757,297 (GRCm39) S189G probably damaging Het
Cnot1 A T 8: 96,489,772 (GRCm39) I477N probably damaging Het
Col7a1 G T 9: 108,796,574 (GRCm39) probably benign Het
Dchs1 A G 7: 105,415,301 (GRCm39) probably benign Het
Dcn A G 10: 97,342,551 (GRCm39) N169S probably benign Het
Dnajc6 T C 4: 101,473,974 (GRCm39) probably benign Het
Egln3 A G 12: 54,228,432 (GRCm39) F225L probably benign Het
Erap1 G A 13: 74,816,171 (GRCm39) R100Q possibly damaging Het
Erc2 A T 14: 27,498,781 (GRCm39) probably null Het
Fto G A 8: 92,168,435 (GRCm39) probably null Het
Gdap1l1 C T 2: 163,288,011 (GRCm39) P80S probably damaging Het
Gm1123 T C 9: 98,905,405 (GRCm39) E35G possibly damaging Het
Hhipl1 A G 12: 108,288,156 (GRCm39) probably benign Het
Ift80 A T 3: 68,822,008 (GRCm39) L679Q probably damaging Het
Il18 A G 9: 50,488,013 (GRCm39) probably benign Het
Inhbb T C 1: 119,345,125 (GRCm39) Y388C probably damaging Het
Kmt2d G T 15: 98,742,360 (GRCm39) probably benign Het
Krt20 A G 11: 99,328,640 (GRCm39) V95A probably damaging Het
Lck A T 4: 129,449,474 (GRCm39) S274R possibly damaging Het
Lrp1 T A 10: 127,376,848 (GRCm39) N4243I probably damaging Het
Lrrfip2 G A 9: 111,043,311 (GRCm39) V506I probably damaging Het
Ltbp2 A G 12: 84,840,507 (GRCm39) C1000R probably damaging Het
Matn3 G A 12: 9,002,105 (GRCm39) D106N probably damaging Het
Mical2 A G 7: 111,980,503 (GRCm39) E49G probably benign Het
Mmadhc A G 2: 50,182,869 (GRCm39) S36P probably damaging Het
Morn1 T C 4: 155,229,629 (GRCm39) Y433H probably damaging Het
Mpo A G 11: 87,692,436 (GRCm39) M525V probably benign Het
Myo5a C T 9: 75,068,774 (GRCm39) R659C probably damaging Het
Obox6 T C 7: 15,568,364 (GRCm39) S171G probably benign Het
Or1j18 A G 2: 36,624,917 (GRCm39) N195D probably damaging Het
Or4k36 T A 2: 111,146,518 (GRCm39) D231E probably benign Het
Or5g29 A T 2: 85,421,696 (GRCm39) N271Y probably benign Het
P2ry14 A G 3: 59,023,314 (GRCm39) Y49H probably benign Het
Papss2 C T 19: 32,611,302 (GRCm39) T17I possibly damaging Het
Pcid2 T C 8: 13,135,392 (GRCm39) T206A probably benign Het
Pex6 A G 17: 47,022,844 (GRCm39) E140G probably damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prdx2 T G 8: 85,698,330 (GRCm39) probably benign Het
Ptbp2 A T 3: 119,514,310 (GRCm39) L471Q probably damaging Het
Rbm33 T A 5: 28,557,604 (GRCm39) D232E possibly damaging Het
Rnf214 T A 9: 45,809,791 (GRCm39) probably null Het
Rora G A 9: 69,281,330 (GRCm39) R314H probably damaging Het
Rufy4 T C 1: 74,168,095 (GRCm39) probably benign Het
Sag T C 1: 87,742,402 (GRCm39) V58A probably damaging Het
Serpina3i C T 12: 104,231,423 (GRCm39) T20M probably damaging Het
Slc4a5 A G 6: 83,254,537 (GRCm39) N578S probably benign Het
Soat2 A G 15: 102,066,574 (GRCm39) Y285C probably damaging Het
Syk A G 13: 52,794,769 (GRCm39) Y478C probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tas2r126 A T 6: 42,412,036 (GRCm39) M190L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttc19 A G 11: 62,199,910 (GRCm39) D218G probably damaging Het
Tut1 T C 19: 8,942,800 (GRCm39) V629A probably damaging Het
Txndc11 T C 16: 10,905,968 (GRCm39) N521D probably benign Het
Ushbp1 T C 8: 71,841,614 (GRCm39) E405G possibly damaging Het
Usp46 C T 5: 74,163,918 (GRCm39) R246Q probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Vmn2r104 T A 17: 20,262,075 (GRCm39) I352F possibly damaging Het
Wdr4 G A 17: 31,715,890 (GRCm39) T398I probably benign Het
Ythdc1 T A 5: 86,968,560 (GRCm39) probably benign 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
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
R8540:Aebp2 UTSW 6 140,579,437 (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'- TGCAAAGCACACGGTTGACATCTTC -3'
(R):5'- ATGTGCAGAGTGCCAGGATTCACAG -3'

Sequencing Primer
(F):5'- ACGGTTGACATCTTCTAAACTGC -3'
(R):5'- GCTGTGACTTTAACAAAGCCTC -3'
Posted On 2013-04-11