Mutagenetix > Incidental Mutation

Incidental Mutation 'R1017:Baiap2l2'

96492

Institutional Source

Beutler Lab

Gene Symbol

Baiap2l2

Ensembl Gene

ENSMUSG00000018126

Gene Name

BAI1-associated protein 2-like 2

Synonyms

MMRRC Submission

039121-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1017 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

79142395-79169737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79145443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 317 (F317L)

Ref Sequence

ENSEMBL: ENSMUSP00000127816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053926] [ENSMUST00000165408] [ENSMUST00000169462]

AlphaFold

Q80Y61

PDB Structure

I-BAR OF PinkBAR [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000053926

SMART Domains

Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121

Domain	Start	End	E-Value	Type
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: F317L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126
AA Change: F317L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000170254

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.7%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

98% (47/48)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	C	T	6: 125,038,223 (GRCm39)		probably benign	Het
Ahnak	A	T	19: 8,987,907 (GRCm39)	I3064F	probably damaging	Het
Arhgef10l	C	A	4: 140,242,617 (GRCm39)	R884L	probably damaging	Het
Brinp2	A	T	1: 158,077,021 (GRCm39)	I358N	probably damaging	Het
Ccin	A	G	4: 43,985,222 (GRCm39)	D543G	probably benign	Het
Cdh23	T	A	10: 60,167,572 (GRCm39)	D1806V	probably damaging	Het
Cdh6	C	T	15: 13,051,562 (GRCm39)	R357Q	probably benign	Het
Cpa3	T	C	3: 20,293,797 (GRCm39)	M64V	possibly damaging	Het
Ctnnb1	T	A	9: 120,779,794 (GRCm39)	F74I	probably damaging	Het
Cyp7a1	A	T	4: 6,272,307 (GRCm39)	I302N	probably damaging	Het
Dnase1l2	C	T	17: 24,661,446 (GRCm39)	A56T	probably benign	Het
Dscam	T	A	16: 96,634,633 (GRCm39)	D190V	probably damaging	Het
Fer1l4	T	C	2: 155,891,398 (GRCm39)		probably null	Het
Fscb	T	A	12: 64,520,242 (GRCm39)	D408V	probably benign	Het
Gm10306	A	G	4: 94,444,957 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,765,803 (GRCm39)	M409K	probably benign	Het
Gsx2	T	C	5: 75,237,923 (GRCm39)	S292P	probably damaging	Het
Hira	T	A	16: 18,718,097 (GRCm39)		probably null	Het
Hoxa3	G	T	6: 52,149,386 (GRCm39)		probably null	Het
Irak3	T	C	10: 119,978,789 (GRCm39)	E554G	possibly damaging	Het
Itgb3bp	A	G	4: 99,657,724 (GRCm39)		probably benign	Het
Kifc3	C	T	8: 95,832,413 (GRCm39)	D379N	probably damaging	Het
Lama5	A	G	2: 179,837,213 (GRCm39)	V1032A	probably damaging	Het
Lmln	T	G	16: 32,908,546 (GRCm39)	I324R	probably benign	Het
Ltbp4	A	G	7: 27,005,501 (GRCm39)	S1547P	possibly damaging	Het
Mdga1	T	A	17: 30,069,522 (GRCm39)	T175S	probably damaging	Het
Mrps6	T	A	16: 91,855,346 (GRCm39)	L8*	probably null	Het
Mtmr11	A	C	3: 96,071,794 (GRCm39)	T203P	probably damaging	Het
Nat8f7	T	C	6: 85,684,552 (GRCm39)	D96G	probably damaging	Het
Obscn	T	C	11: 58,889,179 (GRCm39)	E7531G	unknown	Het
Or2k2	A	T	4: 58,785,115 (GRCm39)	S202R	probably damaging	Het
Or8k25	A	T	2: 86,243,855 (GRCm39)	D180E	probably damaging	Het
Or8k27	A	T	2: 86,275,772 (GRCm39)	L185I	probably benign	Het
Osbpl6	A	G	2: 76,380,063 (GRCm39)	Y69C	probably damaging	Het
Polrmt	C	T	10: 79,579,343 (GRCm39)	W136*	probably null	Het
Raver1	T	C	9: 20,990,886 (GRCm39)		probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rsl1d1	T	C	16: 11,021,116 (GRCm39)	K2E	probably benign	Het
Sik3	C	T	9: 46,107,107 (GRCm39)	T417I	probably benign	Het
Spdl1	T	C	11: 34,710,117 (GRCm39)	K388R	possibly damaging	Het
Tulp1	T	C	17: 28,583,277 (GRCm39)	R88G	probably damaging	Het
Vldlr	A	C	19: 27,218,733 (GRCm39)	Y528S	probably damaging	Het
Zdhhc14	T	A	17: 5,543,924 (GRCm39)	L68H	probably damaging	Het
Zfp605	C	T	5: 110,275,860 (GRCm39)	T326I	probably benign	Het

Other mutations in Baiap2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTTGTTGAGCCCCTCGCTTCTGAGAG -3'
(R):5'- AACCCTTACGCCGACATCTGGGATTG -3'

Sequencing Primer
(F):5'- AAACCTCGGTGGAGCAC -3'
(R):5'- AGTTGGAGCCAGACCGC -3'

Posted On

2014-01-05