Mutagenetix > Incidental Mutation

Incidental Mutation 'R5446:Vpreb1a'

429092

Institutional Source

Beutler Lab

Gene Symbol

Vpreb1a

Ensembl Gene

ENSMUSG00000059305

Gene Name

V-set pre-B cell surrogate light chain 1A

Synonyms

Vpreb1, Vpreb-1, CD179a

MMRRC Submission

043011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16686265-16687119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16686554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 112 (V112E)

Ref Sequence

ENSEMBL: ENSMUSP00000074537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000075017] [ENSMUST00000100136] [ENSMUST00000232231] [ENSMUST00000231812] [ENSMUST00000232200] [ENSMUST00000232017] [ENSMUST00000232080] [ENSMUST00000232581] [ENSMUST00000232547]

AlphaFold

P13372

Predicted Effect

probably benign
Transcript: ENSMUST00000023465

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
TOPRIM	3	138	2.64e-27	SMART
TOP1Bc	146	242	3.84e-38	SMART
TOP1Ac	289	545	2.28e-104	SMART
low complexity region	824	850	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075017
AA Change: V112E

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

SMART Domains

Protein: ENSMUSP00000074537
Gene: ENSMUSG00000059305
AA Change: V112E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.96e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100136

SMART Domains

Protein: ENSMUSP00000097713
Gene: ENSMUSG00000075370

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IGc1	126	200	2.17e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

probably benign
Transcript: ENSMUST00000232231

Predicted Effect

probably benign
Transcript: ENSMUST00000231812

Predicted Effect

probably benign
Transcript: ENSMUST00000232200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231439

Predicted Effect

probably benign
Transcript: ENSMUST00000232017

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231704

Predicted Effect

probably benign
Transcript: ENSMUST00000232581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232531

Predicted Effect

probably benign
Transcript: ENSMUST00000232547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232670

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants have fewer cells with functional pre-B cell receptors. Double knockouts homozygous for null mutations at Vpreb1 and Vpreb2 show impaired B-cell development. Fewer B-cells are found in bone marrow, spleen and peritoneum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,647,486 (GRCm39)	N155S	probably damaging	Het
Ak9	A	G	10: 41,296,505 (GRCm39)	D1417G	possibly damaging	Het
Ankrd52	G	T	10: 128,224,430 (GRCm39)	C736F	probably damaging	Het
Arhgap15	T	A	2: 43,718,772 (GRCm39)	H85Q	probably benign	Het
Bcat2	G	A	7: 45,234,569 (GRCm39)	R110H	possibly damaging	Het
Bscl2	A	G	19: 8,823,564 (GRCm39)	H4R	possibly damaging	Het
Cdh2	T	C	18: 16,779,684 (GRCm39)	I126V	probably damaging	Het
Cnbd2	A	C	2: 156,209,581 (GRCm39)	E508A	possibly damaging	Het
Crb2	T	C	2: 37,685,461 (GRCm39)	I1191T	probably benign	Het
Dync2h1	T	C	9: 7,144,217 (GRCm39)	T1075A	probably benign	Het
Edil3	A	C	13: 89,332,957 (GRCm39)	H371P	possibly damaging	Het
Gm5134	T	C	10: 75,831,670 (GRCm39)	S370P	probably damaging	Het
Helz	T	C	11: 107,523,030 (GRCm39)	V737A	probably damaging	Het
Jade2	A	G	11: 51,707,786 (GRCm39)	V809A	probably benign	Het
Klhl23	T	A	2: 69,654,582 (GRCm39)	C151S	probably damaging	Het
Krt75	T	C	15: 101,479,502 (GRCm39)	D276G	probably null	Het
Lipm	C	T	19: 34,095,287 (GRCm39)	A294V	possibly damaging	Het
Med13l	A	G	5: 118,880,462 (GRCm39)	N1185D	possibly damaging	Het
Mmp27	T	A	9: 7,573,516 (GRCm39)		probably benign	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Muc21	T	A	17: 35,933,395 (GRCm39)		probably benign	Het
Npnt	A	G	3: 132,614,130 (GRCm39)	L191P	probably damaging	Het
Or4c10b	A	T	2: 89,711,893 (GRCm39)	H241L	probably damaging	Het
Paip2b	T	C	6: 83,791,844 (GRCm39)	I13V	probably benign	Het
Pcdhac2	T	A	18: 37,278,253 (GRCm39)	L411Q	probably damaging	Het
Plekhd1	A	G	12: 80,767,410 (GRCm39)	N266S	probably benign	Het
Pnpla8	A	G	12: 44,337,368 (GRCm39)	T454A	possibly damaging	Het
Prkcg	A	T	7: 3,378,780 (GRCm39)	Y675F	probably benign	Het
Pwwp2b	T	A	7: 138,835,066 (GRCm39)	I169N	probably damaging	Het
Rreb1	G	A	13: 38,082,473 (GRCm39)	R86H	possibly damaging	Het
Smok3c	A	C	5: 138,062,895 (GRCm39)	L127F	probably damaging	Het
St6galnac1	T	A	11: 116,657,095 (GRCm39)	M427L	probably benign	Het
Synm	T	C	7: 67,385,722 (GRCm39)	T205A	probably benign	Het
Tsbp1	T	C	17: 34,659,867 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn2r112	A	G	17: 22,837,231 (GRCm39)	Y564C	probably damaging	Het
Vmn2r90	A	C	17: 17,932,464 (GRCm39)	T124P	probably damaging	Het
Zfp451	A	G	1: 33,816,609 (GRCm39)	L447S	probably damaging	Het
Zfp746	T	C	6: 48,041,107 (GRCm39)	T539A	probably damaging	Het

Other mutations in Vpreb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Vpreb1a	APN	16	16,686,951 (GRCm39)	missense	probably benign	0.00
IGL02232:Vpreb1a	APN	16	16,686,603 (GRCm39)	missense	possibly damaging	0.95
R1824:Vpreb1a	UTSW	16	16,686,935 (GRCm39)	splice site	probably null
R1836:Vpreb1a	UTSW	16	16,686,933 (GRCm39)	missense	probably benign	0.17
R3625:Vpreb1a	UTSW	16	16,686,668 (GRCm39)	missense	probably benign	0.01
R5239:Vpreb1a	UTSW	16	16,686,592 (GRCm39)	nonsense	probably null
R6692:Vpreb1a	UTSW	16	16,686,666 (GRCm39)	missense	probably damaging	1.00
R6996:Vpreb1a	UTSW	16	16,686,678 (GRCm39)	missense	probably damaging	1.00
R7388:Vpreb1a	UTSW	16	16,686,516 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGCTCTGCAAAACCTCACG -3'
(R):5'- GCAACGACCATAACATTGGC -3'

Sequencing Primer
(F):5'- GCTCTGCAAAACCTCACGTTCTAC -3'
(R):5'- GGCATTTACAGCATTTACTGGTACC -3'

Posted On

2016-09-06