Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Vipr1'

722293

Institutional Source

Beutler Lab

Gene Symbol

Vipr1

Ensembl Gene

ENSMUSG00000032528

Gene Name

vasoactive intestinal peptide receptor 1

Synonyms

VIP-R1, VPAC1, VIP receptor subtype 1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9576 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

121471782-121502020 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 121471993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035115] [ENSMUST00000077706] [ENSMUST00000120918] [ENSMUST00000125075] [ENSMUST00000213757] [ENSMUST00000214592]

AlphaFold

P97751

Predicted Effect

probably null
Transcript: ENSMUST00000035115

SMART Domains

Protein: ENSMUSP00000035115
Gene: ENSMUSG00000032528

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
HormR	59	131	7.38e-26	SMART
Pfam:7tm_2	140	386	1.4e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077706

SMART Domains

Protein: ENSMUSP00000076887
Gene: ENSMUSG00000032530

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LYZ1	20	144	1.29e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120918

SMART Domains

Protein: ENSMUSP00000113034
Gene: ENSMUSG00000032530

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LYZ1	20	144	1.29e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125075

SMART Domains

Protein: ENSMUSP00000115284
Gene: ENSMUSG00000032530

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LYZ1	20	91	6.48e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213757

Predicted Effect

probably benign
Transcript: ENSMUST00000214592

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with severe neonatal growth failure, enlarged cecum, intestinal hemorrhage, and enterocyte hyperproliferation in addition to disorganized islets and impaired glucose homeostasisin surviving mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Aars1	T	A	8: 111,768,296 (GRCm39)	Y222*	probably null	Het
Abi2	G	T	1: 60,449,008 (GRCm39)	R16L	possibly damaging	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Adgrv1	T	C	13: 81,691,608 (GRCm39)	T1660A	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arhgap26	T	A	18: 39,253,207 (GRCm39)	Y211*	probably null	Het
Ascc3	T	C	10: 50,494,254 (GRCm39)	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,030,436 (GRCm39)	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,407,544 (GRCm39)	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,658,338 (GRCm39)	T241A		Het
Chd9	T	A	8: 91,659,294 (GRCm39)	S85T	unknown	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Crygb	T	C	1: 65,119,686 (GRCm39)	D98G	probably benign	Het
Ctbp2	A	T	7: 132,616,198 (GRCm39)	S246T	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Dpp10	A	G	1: 123,269,409 (GRCm39)	S667P	probably damaging	Het
Epha7	G	A	4: 28,870,659 (GRCm39)	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Glp2r	T	C	11: 67,655,622 (GRCm39)	K40R	probably benign	Het
H2-Q5	G	A	17: 35,613,413 (GRCm39)	V49M		Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hc	T	A	2: 34,873,767 (GRCm39)	T1656S	probably benign	Het
Hfm1	A	T	5: 107,021,938 (GRCm39)	I999N	probably benign	Het
Hoxc4	A	T	15: 102,944,384 (GRCm39)	E254V	probably benign	Het
Il5ra	T	C	6: 106,712,688 (GRCm39)	N275S	probably damaging	Het
Itfg2	C	A	6: 128,389,950 (GRCm39)	A272S	probably benign	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Jakmip3	A	G	7: 138,621,988 (GRCm39)	E296G	probably damaging	Het
Jchain	T	G	5: 88,673,976 (GRCm39)	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,944,307 (GRCm39)	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Klk1b4	A	T	7: 43,860,477 (GRCm39)	D165V	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo18a	T	A	11: 77,709,827 (GRCm39)	I607N	probably damaging	Het
Nefh	C	T	11: 4,891,222 (GRCm39)	E466K	possibly damaging	Het
Nudc	T	C	4: 133,262,989 (GRCm39)	E118G	probably benign	Het
Or2aj6	A	T	16: 19,442,961 (GRCm39)	D296E	probably damaging	Het
Or56a3	T	C	7: 104,735,760 (GRCm39)	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Plekha7	T	C	7: 115,728,669 (GRCm39)	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Prkag3	A	T	1: 74,787,082 (GRCm39)	W59R		Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Skap1	T	C	11: 96,472,030 (GRCm39)	F101S	probably benign	Het
Slc16a8	T	A	15: 79,136,182 (GRCm39)	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,578,004 (GRCm39)	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,556,235 (GRCm39)	D47A	probably benign	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,742,367 (GRCm39)	M387V	probably benign	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,946,822 (GRCm39)	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,511,335 (GRCm39)	G385W	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Usp13	A	T	3: 32,969,135 (GRCm39)		probably null	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn2r50	T	C	7: 9,771,190 (GRCm39)	Q837R	probably benign	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	probably benign	Het

Other mutations in Vipr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Vipr1	APN	9	121,494,244 (GRCm39)	missense	probably damaging	0.99
IGL01779:Vipr1	APN	9	121,493,696 (GRCm39)	missense	probably damaging	1.00
IGL01809:Vipr1	APN	9	121,490,506 (GRCm39)	missense	possibly damaging	0.70
IGL02250:Vipr1	APN	9	121,494,255 (GRCm39)	missense	probably benign	0.10
IGL02677:Vipr1	APN	9	121,489,349 (GRCm39)	splice site	probably benign
bernalillo	UTSW	9	121,493,684 (GRCm39)	missense	probably damaging	1.00
R0036:Vipr1	UTSW	9	121,490,049 (GRCm39)	missense	probably benign
R0514:Vipr1	UTSW	9	121,487,115 (GRCm39)	missense	probably damaging	1.00
R0629:Vipr1	UTSW	9	121,489,237 (GRCm39)	nonsense	probably null
R1470:Vipr1	UTSW	9	121,494,586 (GRCm39)	missense	possibly damaging	0.66
R1470:Vipr1	UTSW	9	121,494,586 (GRCm39)	missense	possibly damaging	0.66
R1766:Vipr1	UTSW	9	121,490,485 (GRCm39)	missense	possibly damaging	0.87
R1884:Vipr1	UTSW	9	121,494,930 (GRCm39)	missense	possibly damaging	0.56
R1945:Vipr1	UTSW	9	121,497,541 (GRCm39)	missense	probably damaging	1.00
R1945:Vipr1	UTSW	9	121,497,540 (GRCm39)	missense	probably damaging	1.00
R2366:Vipr1	UTSW	9	121,494,250 (GRCm39)	missense	probably benign	0.19
R4275:Vipr1	UTSW	9	121,493,684 (GRCm39)	missense	probably damaging	1.00
R4600:Vipr1	UTSW	9	121,494,202 (GRCm39)	splice site	probably null
R5012:Vipr1	UTSW	9	121,487,111 (GRCm39)	critical splice acceptor site	probably null
R6190:Vipr1	UTSW	9	121,493,719 (GRCm39)	missense	probably damaging	1.00
R6376:Vipr1	UTSW	9	121,493,640 (GRCm39)	missense	probably damaging	1.00
R6473:Vipr1	UTSW	9	121,497,621 (GRCm39)	missense	probably damaging	1.00
R6476:Vipr1	UTSW	9	121,498,489 (GRCm39)	missense	probably benign	0.28
R6641:Vipr1	UTSW	9	121,498,631 (GRCm39)	makesense	probably null
R6752:Vipr1	UTSW	9	121,482,959 (GRCm39)	missense	probably damaging	0.99
R7189:Vipr1	UTSW	9	121,493,620 (GRCm39)	missense	probably damaging	0.97
R7371:Vipr1	UTSW	9	121,497,621 (GRCm39)	missense	probably damaging	1.00
R7419:Vipr1	UTSW	9	121,490,539 (GRCm39)	missense	probably damaging	0.97
R7647:Vipr1	UTSW	9	121,482,905 (GRCm39)	missense	possibly damaging	0.79
R8123:Vipr1	UTSW	9	121,498,518 (GRCm39)	missense	probably damaging	1.00
R8225:Vipr1	UTSW	9	121,471,915 (GRCm39)	start codon destroyed	possibly damaging	0.59
R8675:Vipr1	UTSW	9	121,493,732 (GRCm39)	missense	probably damaging	1.00
R9256:Vipr1	UTSW	9	121,490,118 (GRCm39)	missense	probably benign	0.09
R9343:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9344:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9422:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9424:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9463:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9464:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9517:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null
R9577:Vipr1	UTSW	9	121,471,993 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGACTGGAGGAGCTCACTG -3'
(R):5'- TGATTGGGATCACTTCGCG -3'

Sequencing Primer
(F):5'- TGGAGCTGTGCCTCATAGC -3'
(R):5'- CGGTGAGCGCTCTAAGATG -3'

Posted On

2022-08-09