Incidental Mutation 'R6159:Baiap2l2'
ID 489778
Institutional Source Beutler Lab
Gene Symbol Baiap2l2
Ensembl Gene ENSMUSG00000018126
Gene Name BAI1-associated protein 2-like 2
Synonyms
MMRRC Submission 044306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6159 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79142395-79169737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79143930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 388 (I388T)
Ref Sequence ENSEMBL: ENSMUSP00000127816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039752] [ENSMUST00000053926] [ENSMUST00000165408] [ENSMUST00000169462]
AlphaFold Q80Y61
PDB Structure I-BAR OF PinkBAR [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000039752
SMART Domains Protein: ENSMUSP00000040522
Gene: ENSMUSG00000032988

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:MFS_1 20 349 1.3e-28 PFAM
transmembrane domain 353 372 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
low complexity region 465 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053926
SMART Domains Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121

DomainStartEndE-ValueType
PDZ 31 105 2.12e-13 SMART
Arfaptin 117 363 1.18e-103 SMART
GLECT 393 530 7.99e-3 SMART
Gal-bind_lectin 399 530 4.49e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165408
AA Change: I388T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126
AA Change: I388T

DomainStartEndE-ValueType
Pfam:IMD 16 226 1e-90 PFAM
low complexity region 232 244 N/A INTRINSIC
SH3 327 386 2.54e-9 SMART
low complexity region 389 409 N/A INTRINSIC
low complexity region 443 472 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169462
SMART Domains Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126

DomainStartEndE-ValueType
Pfam:IMD 16 226 3.8e-83 PFAM
low complexity region 232 244 N/A INTRINSIC
low complexity region 258 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170254
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A C 6: 29,908,457 (GRCm39) N609T possibly damaging Het
Ankzf1 G A 1: 75,170,888 (GRCm39) C98Y probably damaging Het
Atg101 T A 15: 101,188,519 (GRCm39) M208K possibly damaging Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Chrnd T A 1: 87,118,812 (GRCm39) D56E probably benign Het
Col28a1 A T 6: 8,162,247 (GRCm39) probably null Het
Col4a1 G T 8: 11,270,007 (GRCm39) P899Q probably damaging Het
Cts3 C A 13: 61,714,655 (GRCm39) A217S probably damaging Het
Dab2 A G 15: 6,465,941 (GRCm39) N495S possibly damaging Het
Dnah2 T A 11: 69,349,368 (GRCm39) I2423F probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock6 T C 9: 21,733,041 (GRCm39) H1053R probably benign Het
Eif1ad14 G A 12: 87,886,521 (GRCm39) A36V probably damaging Het
Fam184a G A 10: 53,574,869 (GRCm39) L191F probably damaging Het
Fbxl9 T C 8: 106,049,925 (GRCm39) Y33C probably damaging Het
Fip1l1 C T 5: 74,752,608 (GRCm39) R472W probably damaging Het
Gbp2 T C 3: 142,338,018 (GRCm39) F378S probably damaging Het
Ggt1 A T 10: 75,420,799 (GRCm39) E388V probably damaging Het
Gm14496 A G 2: 181,638,050 (GRCm39) T375A probably benign Het
Gm43302 A G 5: 105,436,894 (GRCm39) S71P probably benign Het
Gnrhr G T 5: 86,330,216 (GRCm39) T268K probably damaging Het
Htt T C 5: 34,962,020 (GRCm39) V335A probably benign Het
Klhl20 A T 1: 160,933,037 (GRCm39) L257H probably damaging Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Muc5ac T A 7: 141,369,323 (GRCm39) C2433S possibly damaging Het
Nasp A G 4: 116,461,086 (GRCm39) probably null Het
Nipal2 A C 15: 34,600,172 (GRCm39) V215G probably damaging Het
Or10al5 A T 17: 38,063,038 (GRCm39) I98F probably damaging Het
Or9i1b C T 19: 13,897,104 (GRCm39) T240I probably damaging Het
Oxct2b G A 4: 123,011,244 (GRCm39) R388H probably damaging Het
Pbrm1 A G 14: 30,774,240 (GRCm39) I469V possibly damaging Het
Phyhip A G 14: 70,704,294 (GRCm39) H171R possibly damaging Het
Pigs C T 11: 78,219,326 (GRCm39) T9M probably benign Het
Plek T C 11: 16,935,539 (GRCm39) D256G probably damaging Het
Prss50 T C 9: 110,693,371 (GRCm39) V369A probably benign Het
Psmc5 A G 11: 106,152,088 (GRCm39) K82E possibly damaging Het
Qrsl1 A T 10: 43,758,189 (GRCm39) F301L probably benign Het
Rasal1 T C 5: 120,797,673 (GRCm39) L135P probably damaging Het
Rbm47 A G 5: 66,184,159 (GRCm39) V148A probably damaging Het
Scyl1 T A 19: 5,814,785 (GRCm39) D381V probably benign Het
Selplg G T 5: 113,957,162 (GRCm39) D381E probably benign Het
Sh3rf2 C A 18: 42,289,200 (GRCm39) Q674K probably damaging Het
Sned1 A G 1: 93,210,659 (GRCm39) T987A probably benign Het
Sntb1 A G 15: 55,539,698 (GRCm39) probably null Het
Synj2 A T 17: 6,036,327 (GRCm39) I14F probably damaging Het
Taf2 A T 15: 54,926,440 (GRCm39) M170K possibly damaging Het
Tg A G 15: 66,607,096 (GRCm39) E211G possibly damaging Het
Thnsl1 G T 2: 21,217,016 (GRCm39) E257* probably null Het
Tlr4 A G 4: 66,758,070 (GRCm39) R288G possibly damaging Het
Trbc1 T C 6: 41,515,385 (GRCm39) probably benign Het
Trim37 G A 11: 87,107,374 (GRCm39) probably null Het
Txnrd3 T C 6: 89,640,176 (GRCm39) probably null Het
Tyk2 C A 9: 21,021,800 (GRCm39) Q875H probably damaging Het
Vmn2r55 A G 7: 12,385,698 (GRCm39) Y761H probably damaging Het
Zswim5 T C 4: 116,836,876 (GRCm39) L720P probably damaging Het
Other mutations in Baiap2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Baiap2l2 APN 15 79,168,765 (GRCm39) unclassified probably benign
IGL03139:Baiap2l2 APN 15 79,155,753 (GRCm39) missense probably damaging 1.00
R0403:Baiap2l2 UTSW 15 79,155,416 (GRCm39) missense probably benign 0.01
R0532:Baiap2l2 UTSW 15 79,168,276 (GRCm39) missense possibly damaging 0.73
R1017:Baiap2l2 UTSW 15 79,145,443 (GRCm39) missense probably benign 0.02
R2163:Baiap2l2 UTSW 15 79,143,395 (GRCm39) missense possibly damaging 0.60
R2566:Baiap2l2 UTSW 15 79,146,174 (GRCm39) splice site probably null
R4687:Baiap2l2 UTSW 15 79,143,453 (GRCm39) missense probably damaging 1.00
R4740:Baiap2l2 UTSW 15 79,143,951 (GRCm39) missense probably benign 0.44
R5217:Baiap2l2 UTSW 15 79,154,687 (GRCm39) missense probably benign 0.07
R5571:Baiap2l2 UTSW 15 79,155,783 (GRCm39) missense probably damaging 1.00
R6961:Baiap2l2 UTSW 15 79,168,835 (GRCm39) missense probably damaging 1.00
R7709:Baiap2l2 UTSW 15 79,143,911 (GRCm39) missense probably benign
R9091:Baiap2l2 UTSW 15 79,168,205 (GRCm39) critical splice donor site probably null
R9270:Baiap2l2 UTSW 15 79,168,205 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTGAGCCACAGTTCTCCAAAG -3'
(R):5'- CCAGATGACCTTGAACAGCC -3'

Sequencing Primer
(F):5'- GACCAAAGAAGCCAGACCTATTAG -3'
(R):5'- GATGACCTTGAACAGCCTCCTG -3'
Posted On 2017-10-10