Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Baiap3'

501209

Institutional Source

Beutler Lab

Gene Symbol

Baiap3

Ensembl Gene

ENSMUSG00000047507

Gene Name

BAI1-associated protein 3

Synonyms

LOC381076

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25242659-25256364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25251733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 71 (E71G)

Ref Sequence

ENSEMBL: ENSMUSP00000138254 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000169109
AA Change: E71G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: E71G

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

probably damaging
Transcript: ENSMUST00000182056
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: E71G

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

probably damaging
Transcript: ENSMUST00000182435
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: E71G

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 damaging
Transcript: ENSMUST00000182825
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: E71G

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: ENSMUST00000182978

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,180,692	I26T	possibly damaging	Het
Abca13	T	A	11: 9,294,615	Y2159*	probably null	Het
Abca3	A	G	17: 24,383,927	T499A	probably benign	Het
Abcb5	T	A	12: 118,935,967	T322S	probably damaging	Het
Adamts4	T	A	1: 171,250,850	M1K	probably null	Het
Adamtsl4	C	T	3: 95,685,455		probably null	Het
Adh4	A	T	3: 138,424,189	I259F	probably damaging	Het
Aff3	G	A	1: 38,181,424	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,285,648	D280G	probably benign	Het
BC030867	T	A	11: 102,255,833	S312T	probably damaging	Het
Calb2	A	G	8: 110,152,700	I91T	possibly damaging	Het
Ccr5	A	G	9: 124,124,660	N100S	probably benign	Het
Cep57	G	T	9: 13,821,575	R25S	probably damaging	Het
Chadl	A	G	15: 81,695,878	L52P	probably damaging	Het
Clec12b	T	C	6: 129,385,475	T6A	probably damaging	Het
Cnga1	T	A	5: 72,618,250	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,986,523		probably null	Het
Csmd2	T	C	4: 128,462,889		probably null	Het
Ctps	A	T	4: 120,554,103		probably null	Het
Cyp39a1	T	A	17: 43,685,208	W224R	possibly damaging	Het
Defb29	A	T	2: 152,538,928	Y54N	probably benign	Het
Dmbt1	A	T	7: 131,106,273	D1241V	probably damaging	Het
Dnah1	A	T	14: 31,274,366	I2671K	probably benign	Het
Dnah2	C	A	11: 69,516,569	E158*	probably null	Het
Edar	A	G	10: 58,628,641	S59P	possibly damaging	Het
Egr2	T	A	10: 67,540,766	C339*	probably null	Het
Eif5b	G	A	1: 38,045,684	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,051,247	G1169E	probably damaging	Het
Erap1	A	G	13: 74,662,412	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,614,301	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,810,924	V338M	probably damaging	Het
Gabra6	T	C	11: 42,307,490	T378A	probably benign	Het
Gm4924	C	A	10: 82,378,641	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,494,999		noncoding transcript	Het
Gpr108	A	G	17: 57,236,919	F429S	probably damaging	Het
Gpr162	G	A	6: 124,860,938	R250*	probably null	Het
Gtf2a1	A	T	12: 91,567,594	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Herc1	T	A	9: 66,465,537	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,300,754	Y167*	probably null	Het
Htt	T	C	5: 34,849,075	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,625,298	D28G	probably damaging	Het
Impact	T	G	18: 12,974,762	V29G	probably damaging	Het
Itpr3	A	G	17: 27,115,952	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,626,554	L50Q	probably damaging	Het
Jade1	A	G	3: 41,604,903	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,157,354	L131R	probably damaging	Het
Kif2a	A	T	13: 106,993,924	M1K	probably null	Het
Lrsam1	C	A	2: 32,941,858	Q368H	probably damaging	Het
Macf1	T	C	4: 123,435,164	Q4592R	probably damaging	Het
Map3k5	T	C	10: 20,110,719	V893A	probably damaging	Het
Med13l	G	T	5: 118,728,665	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,454,183	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,604,530	L471P	probably damaging	Het
Myo7a	T	C	7: 98,064,816	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,602,136	S352C	probably damaging	Het
Nfat5	T	A	8: 107,369,135	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,094,653	L668F	probably damaging	Het
Olfr1062	G	A	2: 86,423,377	Q100*	probably null	Het
Olfr18	T	C	9: 20,313,969	Q309R	probably benign	Het
Olfr527	C	A	7: 140,336,067	D68E	probably damaging	Het
Plxnb2	T	C	15: 89,164,020	T696A	probably benign	Het
Prkab2	T	A	3: 97,662,293	F58L	probably benign	Het
Prpf4	G	T	4: 62,415,969	L220F	probably benign	Het
Rad18	A	T	6: 112,681,346	D199E	probably benign	Het
Raet1e	T	C	10: 22,174,405	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,494,710	T1089P	possibly damaging	Het
Rest	A	G	5: 77,282,326	E864G	probably benign	Het
Rgsl1	T	A	1: 153,793,774	I289F	probably damaging	Het
Rint1	T	C	5: 23,810,953	Y406H	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scn8a	T	C	15: 100,974,534	S485P	probably damaging	Het
Slamf1	T	A	1: 171,787,970	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,407,603	T362I	possibly damaging	Het
Sos1	C	T	17: 80,453,890	V126I	possibly damaging	Het
Srcap	T	C	7: 127,525,303	F215S	probably damaging	Het
Supt4a	T	A	11: 87,743,287	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,302,110	T232S	probably damaging	Het
Tctex1d2	A	G	16: 32,419,900	Y31C	probably damaging	Het
Tenm3	A	G	8: 48,279,006	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,355,487	L100*	probably null	Het
Tgm1	C	A	14: 55,712,436	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,616,035	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,508,726	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,184,770	F320I	possibly damaging	Het
Vmn1r21	A	C	6: 57,844,094	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,880,480	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,545,290	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,823	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 86,226,078	Y564N	probably damaging	Het
Wee1	G	T	7: 110,126,050	E300*	probably null	Het
Xdh	T	C	17: 73,893,622	D1168G	probably damaging	Het
Zcchc6	A	T	13: 59,788,629	C817*	probably null	Het
Zfp54	A	G	17: 21,433,444	T67A	probably damaging	Het
Zfp941	G	T	7: 140,812,766	H227N	probably benign	Het
Zpr1	T	A	9: 46,281,075	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,455,824	E285G	probably 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
R1702:Baiap3	UTSW	17	25244805	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
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
R8972:Baiap3	UTSW	17	25247036	missense	probably benign	0.04
R9274:Baiap3	UTSW	17	25244380	missense	probably damaging	0.96
R9333:Baiap3	UTSW	17	25248702	missense	possibly damaging	0.54
R9388:Baiap3	UTSW	17	25247135	critical splice donor site	probably null
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'- TGAAGATCTCTGATGGCAGGTG -3'
(R):5'- GCTGTTCACTGCCAATTCAG -3'

Sequencing Primer
(F):5'- AGGTGAGGCCCCTTAGTCTG -3'
(R):5'- GTGGGAAGGGATCTGAACTC -3'

Posted On

2017-12-01