Incidental Mutation 'R3805:Aebp2'
ID 274551
Institutional Source Beutler Lab
Gene Symbol Aebp2
Ensembl Gene ENSMUSG00000030232
Gene Name AE binding protein 2
Synonyms B230313N05Rik
MMRRC Submission 040762-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3805 (G1)
Quality Score 217
Status Validated
Chromosome 6
Chromosomal Location 140568389-140624198 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCGGCC to GCGGCCGGCC at 140589675 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 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 noncoding transcript
Transcript: ENSMUST00000162100
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 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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (41/41)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Ano5 T C 7: 51,226,398 (GRCm39) F584L probably benign Het
Ap1b1 T A 11: 4,983,225 (GRCm39) probably null Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc138 T C 10: 58,397,819 (GRCm39) I553T possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Dnah1 A T 14: 31,016,720 (GRCm39) M1599K possibly damaging Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Fam169a G A 13: 97,234,192 (GRCm39) V155I probably benign Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Hdac3 A G 18: 38,078,745 (GRCm39) probably null Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Htt A G 5: 35,034,548 (GRCm39) probably null Het
Ifit1 A G 19: 34,625,556 (GRCm39) I231V probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Map7d1 A T 4: 126,131,084 (GRCm39) probably null Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Naaladl1 A G 19: 6,164,895 (GRCm39) T628A probably benign Het
Nlrp9a T A 7: 26,264,277 (GRCm39) C643* probably null Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or4b1 T G 2: 89,978,805 (GRCm39) probably benign Het
Oxtr T C 6: 112,454,147 (GRCm39) K39R probably benign Het
Ppp4r4 T A 12: 103,566,625 (GRCm39) M24K probably damaging Het
Ppp6r2 T C 15: 89,149,842 (GRCm39) F256L probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Rsph10b G A 5: 143,895,206 (GRCm39) probably null Het
Slc9b2 T C 3: 135,030,349 (GRCm39) L222P probably damaging Het
Speer4a1 C T 5: 26,240,082 (GRCm39) E223K possibly damaging Het
St18 T A 1: 6,872,577 (GRCm39) L104H probably damaging Het
Tmem184c C A 8: 78,323,504 (GRCm39) D453Y unknown Het
Trpv1 A T 11: 73,143,879 (GRCm39) N237I probably damaging Het
Vmn2r77 T A 7: 86,444,368 (GRCm39) L7* probably null 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
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'- TAAAGCTGGTGGATTATGAGGC -3'
(R):5'- CAGTGTATAAATGTGAAGCCAGTG -3'

Sequencing Primer
(F):5'- CTGATAGTGGAGTTGCTGGACTC -3'
(R):5'- AAGCCAGTGTATACTTTGCCG -3'
Posted On 2015-04-02