Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Avpi1'

15421

Institutional Source

Beutler Lab

Gene Symbol

Avpi1

Ensembl Gene

ENSMUSG00000018821

Gene Name

arginine vasopressin-induced 1

Synonyms

2310008N12Rik, mVIT32

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

42111714-42117432 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 42112223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 112 (E112*)

Ref Sequence

ENSEMBL: ENSMUSP00000018965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018965] [ENSMUST00000066778] [ENSMUST00000161873]

AlphaFold

Q9D7H4

Predicted Effect

probably null
Transcript: ENSMUST00000018965
AA Change: E112*

SMART Domains

Protein: ENSMUSP00000018965
Gene: ENSMUSG00000018821
AA Change: E112*

Domain	Start	End	E-Value	Type
Pfam:TC1	1	76	2.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066778

SMART Domains

Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	68	98	N/A	INTRINSIC
Pfam:PI3_PI4_kinase	133	431	1.7e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161873

SMART Domains

Protein: ENSMUSP00000124617
Gene: ENSMUSG00000018821

Domain	Start	End	E-Value	Type
Pfam:TC1	1	76	6.6e-34	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 77.6%
3x: 65.6%
10x: 37.8%
20x: 19.1%

Validation Efficiency

90% (47/52)

Allele List at MGI

All alleles(74) : Targeted(3) Gene trapped(71)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dlk1	G	C	12: 109,421,439 (GRCm39)	G50A	probably damaging	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Gigyf2	A	C	1: 87,306,698 (GRCm39)	R129S	probably damaging	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Lrrc7	G	A	3: 157,869,897 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,817,542 (GRCm39)	S464P	probably damaging	Het
Myh1	A	C	11: 67,099,904 (GRCm39)	N605H	possibly damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Plekhg1	T	A	10: 3,914,074 (GRCm39)	N1265K	probably benign	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rlf	T	A	4: 121,007,126 (GRCm39)	H618L	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Slco1a1	A	G	6: 141,864,185 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Synb	T	C	14: 69,747,926 (GRCm39)	T193A	probably damaging	Het
Syt11	A	G	3: 88,655,210 (GRCm39)	Y364H	probably damaging	Het
Vcan	T	A	13: 89,810,104 (GRCm39)	H3229L	probably damaging	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het
Zfp1001	A	G	2: 150,165,745 (GRCm39)	I42V	possibly damaging	Het

Other mutations in Avpi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0041:Avpi1	UTSW	19	42,112,223 (GRCm39)	nonsense	probably null
R1713:Avpi1	UTSW	19	42,113,248 (GRCm39)	missense	probably damaging	1.00
R4031:Avpi1	UTSW	19	42,113,180 (GRCm39)	unclassified	probably benign
R5547:Avpi1	UTSW	19	42,113,382 (GRCm39)	missense	probably damaging	1.00
R6675:Avpi1	UTSW	19	42,112,183 (GRCm39)	missense	probably benign
R7033:Avpi1	UTSW	19	42,113,416 (GRCm39)	missense	probably damaging	1.00

Protein Function and Prediction

The Avpi1 gene encodes a 142 amino acid protein that may be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling (Uniprot Q9D7H4). Avpi1 encodes the highly conserved VIT32 protein. The Avpi1 transcript has been shown to be induced by vasopressin in in a mouse collecting duct cell line (1). In Xenopus laevis oocytes, VIT32 reduces Na⁺ transport when coexpressed with ENaC (2). In addition, when injected into the Xenopus oocyte, VIT32 induced oocyte meiotic maturation (2). It has been proposed that VIT32 is involved in G to M transition and cell cycling (2).

Expression/Localization

Examination of Avpi1 expression by Northern Blot analysis identified a 1-kb transcript in all tissues examined in the mouse (2). An addition 1.4-kb transcript was also observed in the kidney and the lung (2).

References

1. Thomas, C. P., Loftus, R. W., and Liu, K. Z. (2004) AVP-Induced VIT32 Gene Expression in Collecting Duct Cells Occurs Via Trans-Activation of a CRE in the 5'-Flanking Region of the VIT32 Gene. Am J Physiol Renal Physiol. 287, F460-8.

2. Nicod, M., Michlig, S., Flahaut, M., Salinas, M., Fowler Jaeger, N., Horisberger, J. D., Rossier, B. C., and Firsov, D. (2002) A Novel Vasopressin-Induced Transcript Promotes MAP Kinase Activation and ENaC Downregulation. EMBO J. 21, 5109-5117.

Posted On

2012-12-21

Science Writer

Anne Murray