Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Vpreb3'

382584

Institutional Source

Beutler Lab

Gene Symbol

Vpreb3

Ensembl Gene

ENSMUSG00000000903

Gene Name

V-set pre-B cell surrogate light chain 3

Synonyms

8HS-20, Vpreb-3

MMRRC Submission

042570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75778891-75785491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75775636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 50 (V50A)

Ref Sequence

ENSEMBL: ENSMUSP00000151812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058906] [ENSMUST00000121151] [ENSMUST00000219728] [ENSMUST00000219839] [ENSMUST00000219979]

AlphaFold

D3Z6J4

Predicted Effect

probably benign
Transcript: ENSMUST00000058906

SMART Domains

Protein: ENSMUSP00000059575
Gene: ENSMUSG00000049422

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	45	64	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059658

SMART Domains

Protein: ENSMUSP00000055979
Gene: ENSMUSG00000050157

Domain	Start	End	E-Value	Type
Pfam:Il2rg	2	89	6.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121151

SMART Domains

Protein: ENSMUSP00000113205
Gene: ENSMUSG00000000903

Domain	Start	End	E-Value	Type
IGv	43	124	1.81e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219435

Predicted Effect

probably benign
Transcript: ENSMUST00000219728

Predicted Effect

probably benign
Transcript: ENSMUST00000219839

Predicted Effect

probably damaging
Transcript: ENSMUST00000219979
AA Change: V50A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.1570

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	C	3: 59,840,161 (GRCm39)	T78P	probably damaging	Het
Abcc8	T	C	7: 45,800,291 (GRCm39)	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,068,927 (GRCm39)	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,234,944 (GRCm39)		probably benign	Het
Ccni	A	T	5: 93,335,553 (GRCm39)	L195Q	possibly damaging	Het
Cdkl4	C	A	17: 80,832,764 (GRCm39)	G327*	probably null	Het
Cdsn	T	C	17: 35,866,326 (GRCm39)	V285A	possibly damaging	Het
Cfap20dc	A	G	14: 8,518,736 (GRCm38)	V240A	probably benign	Het
Chtf18	T	C	17: 25,943,540 (GRCm39)	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,732,984 (GRCm39)	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,949,752 (GRCm39)	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,525 (GRCm39)	Q1055H	possibly damaging	Het
Cyld	T	G	8: 89,433,860 (GRCm39)	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Disp3	C	T	4: 148,328,673 (GRCm39)	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,538,233 (GRCm39)	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Ergic3	T	C	2: 155,859,638 (GRCm39)		probably null	Het
Fkbp14	A	G	6: 54,569,943 (GRCm39)	I29T	probably benign	Het
Gm4845	T	A	1: 141,184,623 (GRCm39)		noncoding transcript	Het
Gm7135	A	T	1: 97,281,801 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,481 (GRCm39)	I57F	probably damaging	Het
Hectd1	A	G	12: 51,809,280 (GRCm39)	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,283,037 (GRCm39)	D1971G	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Itih4	T	A	14: 30,614,244 (GRCm39)	I398N	probably damaging	Het
Kansl1	A	T	11: 104,226,390 (GRCm39)	S922R	probably damaging	Het
Krt27	G	A	11: 99,237,722 (GRCm39)	Q339*	probably null	Het
Lama1	C	A	17: 68,045,829 (GRCm39)	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,806,488 (GRCm39)	C60*	probably null	Het
Med16	A	G	10: 79,738,839 (GRCm39)	S316P	possibly damaging	Het
Mia3	T	C	1: 183,111,970 (GRCm39)	N529S	probably benign	Het
Msi2	T	C	11: 88,285,481 (GRCm39)	K188E	probably damaging	Het
Myh7	T	C	14: 55,209,128 (GRCm39)	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,167,216 (GRCm39)	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167 (GRCm39)	R487H	probably benign	Het
Or4c117	T	C	2: 88,955,682 (GRCm39)	Y131C	probably damaging	Het
Or4k41	T	C	2: 111,280,028 (GRCm39)	I181T	probably benign	Het
Or52h1	A	T	7: 103,828,736 (GRCm39)	V293D	probably damaging	Het
Or5d18	T	C	2: 87,865,005 (GRCm39)	I159M	probably benign	Het
Or6c205	T	C	10: 129,087,141 (GRCm39)	I246T	probably damaging	Het
Otog	T	C	7: 45,937,415 (GRCm39)	V1708A	probably benign	Het
Ptprv	A	G	1: 135,046,586 (GRCm39)		noncoding transcript	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,510,497 (GRCm39)	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,277,428 (GRCm39)	D264G	possibly damaging	Het
Reln	A	G	5: 22,165,424 (GRCm39)	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,055,022 (GRCm39)	Y593*	probably null	Het
Ror2	C	T	13: 53,285,954 (GRCm39)	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,817,678 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,082,209 (GRCm39)		probably null	Het
Runx3	A	G	4: 134,898,446 (GRCm39)	T206A	probably benign	Het
Setx	A	G	2: 29,054,562 (GRCm39)	E2158G	probably damaging	Het
Siglece	C	T	7: 43,308,396 (GRCm39)		probably null	Het
Slco1a8	T	C	6: 141,926,599 (GRCm39)	S576G	probably benign	Het
Snx1	A	T	9: 66,012,187 (GRCm39)	L96*	probably null	Het
Srrm1	A	G	4: 135,074,031 (GRCm39)		probably benign	Het
Stk39	A	T	2: 68,051,336 (GRCm39)		probably benign	Het
Sun3	G	A	11: 8,988,311 (GRCm39)	R4*	probably null	Het
Svil	A	G	18: 5,054,025 (GRCm39)	K347E	possibly damaging	Het
Sybu	T	A	15: 44,541,063 (GRCm39)	E333V	probably damaging	Het
Tet2	A	G	3: 133,192,520 (GRCm39)		probably benign	Het
Tfip11	G	T	5: 112,483,613 (GRCm39)		probably benign	Het
Tmc1	A	C	19: 20,884,319 (GRCm39)	D40E	probably damaging	Het
Twf2	G	T	9: 106,089,539 (GRCm39)	G121W	probably damaging	Het
Vps8	T	A	16: 21,285,219 (GRCm39)	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,266,565 (GRCm39)	Y861F	probably damaging	Het
Zfp608	T	G	18: 55,022,962 (GRCm39)	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,186,504 (GRCm39)	S845A	possibly damaging	Het
Zscan4d	A	T	7: 10,899,274 (GRCm39)	M1K	probably null	Het

Other mutations in Vpreb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Vpreb3	APN	10	75,784,231 (GRCm39)	missense	probably benign
IGL02051:Vpreb3	APN	10	75,784,244 (GRCm39)	critical splice donor site	probably null
IGL03162:Vpreb3	APN	10	75,785,133 (GRCm39)	missense	probably damaging	1.00
R2319:Vpreb3	UTSW	10	75,779,056 (GRCm39)	unclassified	probably benign
R2891:Vpreb3	UTSW	10	75,779,056 (GRCm39)	unclassified	probably benign
R2892:Vpreb3	UTSW	10	75,779,056 (GRCm39)	unclassified	probably benign
R2894:Vpreb3	UTSW	10	75,779,056 (GRCm39)	unclassified	probably benign
R3438:Vpreb3	UTSW	10	75,779,056 (GRCm39)	unclassified	probably benign
R3439:Vpreb3	UTSW	10	75,779,056 (GRCm39)	unclassified	probably benign
R3508:Vpreb3	UTSW	10	75,785,037 (GRCm39)	missense	probably benign	0.26
R3725:Vpreb3	UTSW	10	75,779,125 (GRCm39)	critical splice donor site	probably null
R3726:Vpreb3	UTSW	10	75,779,125 (GRCm39)	critical splice donor site	probably null
R3771:Vpreb3	UTSW	10	75,775,800 (GRCm39)	missense	probably benign	0.00
Z1177:Vpreb3	UTSW	10	75,785,027 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATCTGTTTCCTGGCCCAG -3'
(R):5'- TCACGGTGCATCTGAAACAG -3'

Sequencing Primer
(F):5'- CAAGCACTGGGTAGGGGTG -3'
(R):5'- CATCTGAAACAGAAAGCTCGGGTTC -3'

Posted On

2016-04-27