Mutagenetix > Incidental Mutations

Incidental Mutation 'R1702:Baiap3'

189846

Institutional Source

Beutler Lab

Gene Symbol

Baiap3

Ensembl Gene

ENSMUSG00000047507

Gene Name

BAI1-associated protein 3

Synonyms

LOC381076

MMRRC Submission

039735-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25242659-25256364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25244805 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 886 (H886L)

Ref Sequence

ENSEMBL: ENSMUSP00000138254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038973] [ENSMUST00000063574] [ENSMUST00000115154] [ENSMUST00000169109] [ENSMUST00000182056] [ENSMUST00000182435] [ENSMUST00000182825]

Predicted Effect

probably benign
Transcript: ENSMUST00000038973

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	152	1.4e-10	PFAM
DMAP_binding	176	278	2.55e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063574

SMART Domains

Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126

Domain	Start	End	E-Value	Type
Pfam:RLI	58	92	8.2e-17	PFAM
Pfam:DUF367	96	222	1.3e-56	PFAM
low complexity region	261	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115154

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	151	3.9e-11	PFAM
DMAP_binding	183	285	2.55e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169109
AA Change: H899L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: H899L

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	857	868	N/A	INTRINSIC
Pfam:Membr_traf_MHD	896	958	8e-10	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175461

Predicted Effect

probably damaging
Transcript: ENSMUST00000182056
AA Change: H922L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: H922L

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
Pfam:Membr_traf_MHD	851	959	3.3e-30	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182126

Predicted Effect

probably damaging
Transcript: ENSMUST00000182435
AA Change: H894L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: H894L

Domain	Start	End	E-Value	Type
C2	131	300	4.73e-17	SMART
low complexity region	333	351	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Membr_traf_MHD	823	931	3.2e-30	PFAM
C2	961	1069	7.06e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182696

Predicted Effect

probably damaging
Transcript: ENSMUST00000182825
AA Change: H886L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: H886L

Domain	Start	End	E-Value	Type
C2	159	284	4.05e-16	SMART
low complexity region	325	343	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	461	473	N/A	INTRINSIC
low complexity region	656	668	N/A	INTRINSIC
Pfam:Membr_traf_MHD	815	923	3.2e-30	PFAM
C2	953	1061	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182922

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but exhibit increased PTZ-induced seizure propensity, as well as increased novelty-induced anxiety in both genders, with a more pronounced effect in females, and a faster developmentof tolerance to benzodiazepines in male mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,289,028	C2126S	probably damaging	Het
Abca15	T	C	7: 120,382,702	V1080A	probably benign	Het
Abcg4	A	C	9: 44,275,073	V553G	probably damaging	Het
Ache	T	C	5: 137,290,989	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,573,564	M134K	possibly damaging	Het
Ank2	A	T	3: 126,955,899	S494T	probably benign	Het
Asic3	A	T	5: 24,415,456	T202S	probably damaging	Het
Cidea	T	A	18: 67,366,421	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,613,842	K366T	probably benign	Het
Cntrl	A	T	2: 35,171,836		probably null	Het
Crhr2	A	G	6: 55,092,535	F378S	probably damaging	Het
Deaf1	C	G	7: 141,314,954	R303T	probably damaging	Het
Dnah9	T	A	11: 66,085,195	N1343Y	possibly damaging	Het
Dopey2	A	G	16: 93,747,621	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,386,429		probably null	Het
Dst	T	C	1: 34,167,340	V598A	probably damaging	Het
Ece2	C	T	16: 20,631,246	R136C	probably damaging	Het
Egf	C	A	3: 129,690,811	V453L	probably benign	Het
Egr3	T	A	14: 70,079,767	F342L	probably damaging	Het
Eif2ak2	A	T	17: 78,856,634	I434N	probably damaging	Het
Emc1	A	G	4: 139,375,201	T936A	probably damaging	Het
Fmod	A	T	1: 134,040,762	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,985,100	T112A	probably damaging	Het
Gak	T	C	5: 108,606,376		probably null	Het
Gas2	T	A	7: 51,953,341		probably null	Het
Gm11639	C	T	11: 104,691,006	P58L	probably benign	Het
Gm2381	T	A	7: 42,820,231	Q156H	probably benign	Het
Golga2	T	A	2: 32,299,275	S273T	probably damaging	Het
Homez	T	A	14: 54,856,995	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,148,182	Y184*	probably null	Het
Il11	A	G	7: 4,773,734	S86P	probably damaging	Het
Itgal	A	G	7: 127,305,025	N270S	probably benign	Het
Lama2	T	C	10: 27,190,529	R1119G	probably benign	Het
Lamp3	G	T	16: 19,676,072	N294K	probably benign	Het
Mars	T	C	10: 127,310,079	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,948,659	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,161,744	I65T	probably benign	Het
Mmrn2	A	T	14: 34,397,914	N247I	probably benign	Het
Muc6	G	T	7: 141,650,487	N322K	probably damaging	Het
Mx2	A	G	16: 97,558,683	H551R	probably benign	Het
Mylk	T	A	16: 34,921,944	V942E	probably benign	Het
Nes	A	G	3: 87,975,979	E515G	probably benign	Het
Nfatc3	T	G	8: 106,092,160	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339		probably null	Het
Noxa1	A	G	2: 25,092,584	V73A	probably damaging	Het
Nup160	A	T	2: 90,683,958	E83D	probably damaging	Het
Olfr1427	C	A	19: 12,099,166	V158L	probably benign	Het
Olfr205	C	A	16: 59,329,141	V123L	probably benign	Het
Olfr530	A	T	7: 140,372,742	Y289*	probably null	Het
Olfr923	A	G	9: 38,828,543	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,161,984		probably null	Het
Rundc3b	A	G	5: 8,512,318	V350A	probably benign	Het
Scn1a	C	T	2: 66,318,223	D993N	probably damaging	Het
Sec24c	G	T	14: 20,686,573	G226V	probably null	Het
Sept11	T	A	5: 93,156,924	I200N	probably damaging	Het
Shank3	G	T	15: 89,499,896	G14C	probably damaging	Het
Slc25a39	T	C	11: 102,406,626	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,505,431	T169S	probably benign	Het
Taf1b	T	A	12: 24,509,126	I83K	possibly damaging	Het
Tarbp1	T	A	8: 126,428,218	Q1389L	probably damaging	Het
Thbs1	T	A	2: 118,113,442	D180E	probably benign	Het
Tmc5	T	A	7: 118,672,239	V925D	probably benign	Het
Tmem62	T	C	2: 120,979,227	V130A	probably damaging	Het
Tpp2	C	T	1: 43,990,548	P997L	probably damaging	Het
Trip12	A	T	1: 84,745,063	I127N	probably damaging	Het
Ttc37	A	G	13: 76,122,743	K153R	possibly damaging	Het
Upp2	T	C	2: 58,771,550	F142L	possibly damaging	Het
Usf3	C	T	16: 44,219,632	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,952,969	V186I	possibly damaging	Het
Washc2	T	C	6: 116,229,306	S496P	probably damaging	Het
Wee2	T	C	6: 40,464,201	I480T	probably benign	Het
Xylt2	T	A	11: 94,668,745	H357L	probably damaging	Het
Zbed4	T	C	15: 88,780,853	S375P	probably damaging	Het
Zfp442	A	T	2: 150,409,180	Y266*	probably null	Het
Zfp600	A	G	4: 146,196,927	T722A	probably benign	Het
Zfp976	T	A	7: 42,616,000	H55L	possibly damaging	Het

Other mutations in Baiap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Baiap3	APN	17	25244328	missense	probably damaging	1.00
IGL00486:Baiap3	APN	17	25248377	splice site	probably benign
IGL00820:Baiap3	APN	17	25248690	missense	probably benign	0.20
IGL01443:Baiap3	APN	17	25245147	missense	possibly damaging	0.92
IGL02282:Baiap3	APN	17	25249377	missense	probably benign	0.11
IGL02341:Baiap3	APN	17	25248316	missense	possibly damaging	0.52
IGL02669:Baiap3	APN	17	25244348	missense	probably damaging	1.00
IGL02863:Baiap3	APN	17	25244502	splice site	probably benign
IGL02993:Baiap3	APN	17	25250082	critical splice donor site	probably null
R0021:Baiap3	UTSW	17	25243669	missense	probably damaging	1.00
R0090:Baiap3	UTSW	17	25250070	splice site	probably benign
R0276:Baiap3	UTSW	17	25243687	missense	probably damaging	1.00
R0488:Baiap3	UTSW	17	25248470	critical splice donor site	probably null
R0826:Baiap3	UTSW	17	25245229	missense	possibly damaging	0.89
R0883:Baiap3	UTSW	17	25249101	missense	probably damaging	1.00
R1700:Baiap3	UTSW	17	25249328	missense	probably damaging	1.00
R2336:Baiap3	UTSW	17	25250404	missense	probably damaging	1.00
R2762:Baiap3	UTSW	17	25244575	missense	probably damaging	1.00
R4454:Baiap3	UTSW	17	25249536	missense	probably damaging	1.00
R4540:Baiap3	UTSW	17	25246670	missense	probably damaging	1.00
R4609:Baiap3	UTSW	17	25250261	missense	probably damaging	1.00
R4816:Baiap3	UTSW	17	25247295	splice site	probably benign
R4979:Baiap3	UTSW	17	25246362	missense	possibly damaging	0.57
R5069:Baiap3	UTSW	17	25249108	missense	probably damaging	0.99
R5070:Baiap3	UTSW	17	25249108	missense	probably damaging	0.99
R5093:Baiap3	UTSW	17	25250269	missense	probably damaging	1.00
R5130:Baiap3	UTSW	17	25245342	missense	probably benign	0.01
R5566:Baiap3	UTSW	17	25251733	missense	probably damaging	1.00
R5572:Baiap3	UTSW	17	25251475	missense	possibly damaging	0.86
R5681:Baiap3	UTSW	17	25249373	missense	probably damaging	1.00
R5730:Baiap3	UTSW	17	25247524	missense	probably benign	0.01
R5743:Baiap3	UTSW	17	25244785	missense	probably benign	0.02
R5805:Baiap3	UTSW	17	25247515	missense	probably benign	0.12
R6038:Baiap3	UTSW	17	25246334	missense	probably damaging	1.00
R6038:Baiap3	UTSW	17	25246334	missense	probably damaging	1.00
R6052:Baiap3	UTSW	17	25248470	critical splice donor site	probably benign
R6238:Baiap3	UTSW	17	25245758	missense	probably benign	0.00
R6700:Baiap3	UTSW	17	25244026	missense	probably damaging	1.00
R7037:Baiap3	UTSW	17	25243840	missense	probably benign
R7038:Baiap3	UTSW	17	25243840	missense	probably benign
R7039:Baiap3	UTSW	17	25243840	missense	probably benign
R7126:Baiap3	UTSW	17	25245145	missense	possibly damaging	0.64
R7198:Baiap3	UTSW	17	25243840	missense	probably benign
R7223:Baiap3	UTSW	17	25243840	missense	probably benign
R7291:Baiap3	UTSW	17	25244317	missense	probably damaging	1.00
R7438:Baiap3	UTSW	17	25249108	missense	possibly damaging	0.91
R7687:Baiap3	UTSW	17	25249337	missense	possibly damaging	0.88
R7877:Baiap3	UTSW	17	25251138	missense	probably damaging	0.99
R8172:Baiap3	UTSW	17	25244122	missense	probably damaging	1.00
R8184:Baiap3	UTSW	17	25248525	missense	probably benign	0.00
R8230:Baiap3	UTSW	17	25246853	missense	probably benign	0.00
R8240:Baiap3	UTSW	17	25245314	critical splice donor site	probably null
R8394:Baiap3	UTSW	17	25250122	missense	probably benign
X0017:Baiap3	UTSW	17	25248350	missense	possibly damaging	0.92
Z1176:Baiap3	UTSW	17	25244768	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CAAAGGAAGCTGCCGCTTGTAAC -3'
(R):5'- TCACACTGGAGGTAAGGTCACAAGG -3'

Sequencing Primer
(F):5'- TGGTCTCTGGCATCACAGC -3'
(R):5'- GGACACTAAACCTCTGGGCAG -3'

Posted On

2014-05-14