Mutagenetix > Incidental Mutations

Incidental Mutation 'R4944:Ovgp1'

383327

Institutional Source

Beutler Lab

Gene Symbol

Ovgp1

Ensembl Gene

ENSMUSG00000074340

Gene Name

oviductal glycoprotein 1

Synonyms

Chit5, MOGP, muc9, mucin 9, OGP, oviductin

MMRRC Submission

042541-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105973711-105987423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105979953 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 222 (F222L)

Ref Sequence

ENSEMBL: ENSMUSP00000000573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000573] [ENSMUST00000163626]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000573
AA Change: F222L

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000573
Gene: ENSMUSG00000074340
AA Change: F222L

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Glyco_18	22	360	1.38e-134	SMART
low complexity region	486	515	N/A	INTRINSIC
low complexity region	533	626	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000092878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137168

Predicted Effect

probably benign
Transcript: ENSMUST00000163626

SMART Domains

Protein: ENSMUSP00000132424
Gene: ENSMUSG00000074340

Domain	Start	End	E-Value	Type
Glyco_18	9	226	8.52e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167642

Meta Mutation Damage Score

0.4012

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show no phenotypic abnormalities. Female reproduction is essentially normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	A	5: 8,934,327		probably null	Het
Angptl7	C	G	4: 148,500,077	Q71H	probably damaging	Het
Arhgap30	A	T	1: 171,402,254	N176Y	probably damaging	Het
Armc9	T	A	1: 86,274,534	S805T	probably damaging	Het
Atxn1	T	G	13: 45,566,931	H496P	probably damaging	Het
Cabin1	C	T	10: 75,721,363	G1147D	probably damaging	Het
Cabin1	A	G	10: 75,739,421	S597P	probably damaging	Het
Catsperd	T	C	17: 56,662,744	S613P	probably damaging	Het
Cdh2	A	G	18: 16,650,409	Y88H	probably damaging	Het
Cntn1	C	A	15: 92,228,668	P47Q	probably damaging	Het
Col11a2	T	C	17: 34,042,190	L38P	possibly damaging	Het
Col5a2	T	G	1: 45,376,695	I1431L	possibly damaging	Het
Csmd1	C	T	8: 15,998,772	G2310D	probably damaging	Het
Dhcr7	T	A	7: 143,837,791	I39N	probably damaging	Het
Diexf	A	T	1: 193,114,954	M530K	probably damaging	Het
Dnajc13	C	T	9: 104,167,387		probably benign	Het
Folr2	T	C	7: 101,840,290		probably null	Het
Galnt11	T	C	5: 25,265,338	I595T	probably damaging	Het
Gm884	T	C	11: 103,613,460	T2561A	possibly damaging	Het
Gp5	G	A	16: 30,309,508	A116V	possibly damaging	Het
Gpn3	T	C	5: 122,382,240		probably benign	Het
Gprin3	T	C	6: 59,354,659	N221S	probably benign	Het
Hfm1	T	C	5: 106,874,213	E989G	possibly damaging	Het
Ints1	T	C	5: 139,758,092		probably null	Het
Josd2	T	C	7: 44,471,168	S110P	probably damaging	Het
Kat14	C	A	2: 144,375,953	T123K	probably damaging	Het
Lamtor1	C	T	7: 101,909,764	T48I	probably damaging	Het
Lrrc24	A	G	15: 76,718,346	L113P	probably damaging	Het
Mog	T	C	17: 37,020,541	E89G	probably damaging	Het
Mon2	A	G	10: 123,038,459		probably null	Het
Mtx1	T	C	3: 89,213,898	Y143C	probably benign	Het
Nacad	T	C	11: 6,598,507	E1409G	possibly damaging	Het
Ndst3	T	C	3: 123,607,027	H410R	probably damaging	Het
Nkx6-2	T	C	7: 139,581,570	E233G	possibly damaging	Het
Oas1h	A	G	5: 120,862,783	E152G	probably damaging	Het
Olfr936	A	G	9: 39,046,862	S186P	probably damaging	Het
Pkhd1	T	C	1: 20,288,205	S2716G	probably null	Het
Pla2g4e	T	C	2: 120,171,237	T644A	probably benign	Het
Plxnd1	A	G	6: 115,955,765	I1918T	probably damaging	Het
Prrxl1	G	T	14: 32,608,249	Q136H	probably damaging	Het
Psmg1	A	T	16: 95,989,612		probably benign	Het
Ptprd	G	A	4: 76,128,899	R364C	probably damaging	Het
Rgs22	T	C	15: 36,025,942	I945V	possibly damaging	Het
Rgs7bp	T	C	13: 104,951,564	N234S	probably benign	Het
Rrp7a	T	C	15: 83,119,809		probably benign	Het
Scg2	T	A	1: 79,436,476	R177*	probably null	Het
Sema4c	C	A	1: 36,550,311	C578F	probably damaging	Het
Slc1a5	T	A	7: 16,797,743		probably benign	Het
Slc5a3	A	G	16: 92,078,683	T543A	possibly damaging	Het
Slx4ip	T	A	2: 137,046,767	F123I	probably benign	Het
Smtn	C	T	11: 3,522,916	R737H	probably damaging	Het
Stox2	A	G	8: 47,413,265	I14T	possibly damaging	Het
Stradb	T	C	1: 58,980,440	F43L	probably benign	Het
Szt2	T	C	4: 118,388,669	D1029G	probably benign	Het
Taar6	T	C	10: 23,984,715	Y311C	probably damaging	Het
Tcea3	A	T	4: 136,268,093	N249I	probably damaging	Het
Tecta	A	G	9: 42,330,277	M2134T	probably benign	Het
Tg	G	A	15: 66,764,337	G591D	probably damaging	Het
Tm4sf20	T	A	1: 82,768,363	I19F	probably benign	Het
Top2a	T	C	11: 98,997,850	K1262E	probably benign	Het
Ube2r2	A	G	4: 41,190,742		probably benign	Het
Usp29	T	C	7: 6,961,928	S257P	possibly damaging	Het
Usp40	T	C	1: 87,952,355	N1038S	probably benign	Het
Vmn1r121	C	T	7: 21,097,613	E301K	probably benign	Het
Vmn2r49	T	A	7: 9,989,032	H105L	probably benign	Het
Zgrf1	C	T	3: 127,561,868	Q248*	probably null	Het

Other mutations in Ovgp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Ovgp1	APN	3	105981277	nonsense	probably null
IGL01152:Ovgp1	APN	3	105986172	missense	possibly damaging	0.94
IGL01458:Ovgp1	APN	3	105974991	missense	probably benign	0.01
IGL01646:Ovgp1	APN	3	105978349	missense	probably damaging	1.00
IGL01768:Ovgp1	APN	3	105981351	critical splice donor site	probably null
IGL02712:Ovgp1	APN	3	105986513	unclassified	probably benign
IGL03065:Ovgp1	APN	3	105986366	missense	probably benign	0.01
IGL03140:Ovgp1	APN	3	105979906	missense	probably damaging	1.00
IGL03272:Ovgp1	APN	3	105981325	missense	probably damaging	0.99
PIT4472001:Ovgp1	UTSW	3	105986990	missense	unknown
R0277:Ovgp1	UTSW	3	105979892	intron	probably benign
R0560:Ovgp1	UTSW	3	105986410	unclassified	probably benign
R0718:Ovgp1	UTSW	3	105974830	splice site	probably benign
R0743:Ovgp1	UTSW	3	105974932	missense	probably damaging	1.00
R1362:Ovgp1	UTSW	3	105986575	unclassified	probably benign
R1556:Ovgp1	UTSW	3	105986752	unclassified	probably benign
R1776:Ovgp1	UTSW	3	105977798	missense	possibly damaging	0.52
R1831:Ovgp1	UTSW	3	105985068	missense	probably benign	0.04
R1986:Ovgp1	UTSW	3	105974935	missense	probably damaging	1.00
R2004:Ovgp1	UTSW	3	105986993	unclassified	probably benign
R2156:Ovgp1	UTSW	3	105977717	missense	possibly damaging	0.49
R2254:Ovgp1	UTSW	3	105986912	unclassified	probably benign
R2860:Ovgp1	UTSW	3	105986567	unclassified	probably benign
R2861:Ovgp1	UTSW	3	105986567	unclassified	probably benign
R3117:Ovgp1	UTSW	3	105986452	unclassified	probably benign
R3793:Ovgp1	UTSW	3	105980171	missense	probably benign	0.03
R3835:Ovgp1	UTSW	3	105986315	missense	probably benign	0.00
R3894:Ovgp1	UTSW	3	105986567	unclassified	probably benign
R3894:Ovgp1	UTSW	3	105986596	unclassified	probably benign
R3895:Ovgp1	UTSW	3	105986596	unclassified	probably benign
R4050:Ovgp1	UTSW	3	105986596	unclassified	probably benign
R4050:Ovgp1	UTSW	3	105986567	unclassified	probably benign
R4467:Ovgp1	UTSW	3	105977711	missense	probably benign	0.04
R4611:Ovgp1	UTSW	3	105986567	unclassified	probably benign
R4628:Ovgp1	UTSW	3	105980323	intron	probably null
R4738:Ovgp1	UTSW	3	105979918	missense	probably damaging	1.00
R5110:Ovgp1	UTSW	3	105977783	missense	probably damaging	1.00
R6531:Ovgp1	UTSW	3	105987071	unclassified	probably benign
R6540:Ovgp1	UTSW	3	105986581	nonsense	probably null
R6562:Ovgp1	UTSW	3	105980273	missense	probably damaging	1.00
R6601:Ovgp1	UTSW	3	105986431	unclassified	probably benign
R6906:Ovgp1	UTSW	3	105986873	unclassified	probably benign
R7313:Ovgp1	UTSW	3	105987071	missense	unknown
R7430:Ovgp1	UTSW	3	105986303	missense	possibly damaging	0.62
R7430:Ovgp1	UTSW	3	105986302	missense	probably damaging	0.99
R7566:Ovgp1	UTSW	3	105974310	start gained	probably benign
R7684:Ovgp1	UTSW	3	105979956	missense	probably damaging	0.99
R7805:Ovgp1	UTSW	3	105986794	missense	unknown
R7820:Ovgp1	UTSW	3	105986521	unclassified	probably benign
R8039:Ovgp1	UTSW	3	105976023	missense	probably benign	0.26
Z1177:Ovgp1	UTSW	3	105986840	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCAGGGCAGGTTCATAAG -3'
(R):5'- TACGTCCATAGGTGGGGAAAC -3'

Sequencing Primer
(F):5'- CAGGTTCATAAGAGCAAGGAAC -3'
(R):5'- CCCATAATAAGTTTATCTGCGGGTG -3'

Posted On

2016-04-27