Incidental Mutation 'R5571:Baiap2l2'
ID 435690
Institutional Source Beutler Lab
Gene Symbol Baiap2l2
Ensembl Gene ENSMUSG00000018126
Gene Name BAI1-associated protein 2-like 2
Synonyms
MMRRC Submission 044395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5571 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79142395-79169737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79155783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 97 (H97R)
Ref Sequence ENSEMBL: ENSMUSP00000125946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165408] [ENSMUST00000169462] [ENSMUST00000170955]
AlphaFold Q80Y61
Predicted Effect probably damaging
Transcript: ENSMUST00000165408
AA Change: H97R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126
AA Change: H97R

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: 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 probably damaging
Transcript: ENSMUST00000170955
AA Change: H97R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125946
Gene: ENSMUSG00000018126
AA Change: H97R

DomainStartEndE-ValueType
Pfam:IMD 16 211 1.4e-75 PFAM
Meta Mutation Damage Score 0.6400 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Bax A G 7: 45,111,315 (GRCm39) S184P probably damaging Het
Bsph1 T G 7: 13,184,840 (GRCm39) M1R probably null Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Ssrp1 C G 2: 84,874,669 (GRCm39) D496E probably damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tln2 C T 9: 67,241,602 (GRCm39) G1001E possibly damaging Het
Tm2d3 A G 7: 65,348,872 (GRCm39) N184D probably damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Ube2d2a A G 18: 35,903,531 (GRCm39) probably benign Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown 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
R6159:Baiap2l2 UTSW 15 79,143,930 (GRCm39) missense probably benign
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'- GGTCAGATGAATGCTTGGCG -3'
(R):5'- AGCGTAGTAGCATAGCAACTAG -3'

Sequencing Primer
(F):5'- GGGACAGACTTACCTTGAT -3'
(R):5'- GTAGCATAGCAACTAGTTCAAAGTC -3'
Posted On 2016-10-24