Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Ogfr'

713568

Institutional Source

Beutler Lab

Gene Symbol

Ogfr

Ensembl Gene

ENSMUSG00000049401

Gene Name

opioid growth factor receptor

Synonyms

2010013E17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R9440 (G1)

Quality Score

127.466

Status

Not validated

Chromosome

Chromosomal Location

180589245-180595836 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG to AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG at 180595057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029087] [ENSMUST00000103059] [ENSMUST00000132527]

AlphaFold

Q99PG2

Predicted Effect

probably benign
Transcript: ENSMUST00000029087

SMART Domains

Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401

Domain	Start	End	E-Value	Type
low complexity region	7	40	N/A	INTRINSIC
Pfam:OGFr_N	76	283	2.3e-111	PFAM
low complexity region	358	369	N/A	INTRINSIC
internal_repeat_1	459	483	4.08e-5	PROSPERO
internal_repeat_1	576	600	4.08e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000103059

SMART Domains

Protein: ENSMUSP00000099348
Gene: ENSMUSG00000027570

Domain	Start	End	E-Value	Type
Pfam:Collagen	21	80	7.7e-12	PFAM
Pfam:Collagen	58	114	4.2e-9	PFAM
low complexity region	126	162	N/A	INTRINSIC
Pfam:Collagen	174	236	4.1e-12	PFAM
Pfam:Collagen	213	292	8e-9	PFAM
internal_repeat_1	315	366	1.58e-12	PROSPERO
internal_repeat_2	360	382	2.94e-6	PROSPERO
low complexity region	384	396	N/A	INTRINSIC
Pfam:Collagen	456	518	1.8e-11	PFAM
Pfam:Collagen	545	606	3.8e-11	PFAM
low complexity region	635	656	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132527

SMART Domains

Protein: ENSMUSP00000128718
Gene: ENSMUSG00000027570

Domain	Start	End	E-Value	Type
Pfam:Collagen	21	80	7.9e-12	PFAM
Pfam:Collagen	58	114	4.3e-9	PFAM
Pfam:Collagen	109	166	4.5e-8	PFAM
Pfam:Collagen	174	236	4.2e-12	PFAM
Pfam:Collagen	213	292	8.2e-9	PFAM
internal_repeat_1	315	366	1.58e-12	PROSPERO
internal_repeat_2	360	382	2.94e-6	PROSPERO
low complexity region	384	396	N/A	INTRINSIC
Pfam:Collagen	402	474	8.2e-8	PFAM
Pfam:Collagen	456	518	1.8e-11	PFAM
Pfam:Collagen	545	606	3.9e-11	PFAM
Pfam:Collagen	603	662	2.5e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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 a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly damaging	Het

Other mutations in Ogfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Ogfr	APN	2	180593562	unclassified	probably benign
IGL02437:Ogfr	APN	2	180589536	missense	possibly damaging	0.72
IGL02602:Ogfr	APN	2	180595437	missense	possibly damaging	0.85
IGL02609:Ogfr	APN	2	180592515	splice site	probably benign
IGL03297:Ogfr	APN	2	180594407	missense	possibly damaging	0.93
BB017:Ogfr	UTSW	2	180595266	unclassified	probably benign
PIT4812001:Ogfr	UTSW	2	180595511	missense	possibly damaging	0.93
R0085:Ogfr	UTSW	2	180591037	splice site	probably null
R0398:Ogfr	UTSW	2	180593699	missense	probably damaging	0.99
R1313:Ogfr	UTSW	2	180594630	missense	probably benign
R1313:Ogfr	UTSW	2	180594630	missense	probably benign
R1468:Ogfr	UTSW	2	180594750	missense	probably damaging	1.00
R1468:Ogfr	UTSW	2	180594750	missense	probably damaging	1.00
R4747:Ogfr	UTSW	2	180594423	missense	probably damaging	0.99
R4902:Ogfr	UTSW	2	180593725	unclassified	probably benign
R5422:Ogfr	UTSW	2	180595274	missense	possibly damaging	0.63
R5422:Ogfr	UTSW	2	180595275	missense	probably benign	0.02
R5860:Ogfr	UTSW	2	180592492	missense	probably damaging	1.00
R5988:Ogfr	UTSW	2	180594233	missense	probably damaging	1.00
R6015:Ogfr	UTSW	2	180594674	missense	probably damaging	1.00
R6558:Ogfr	UTSW	2	180595404	missense	possibly damaging	0.93
R6721:Ogfr	UTSW	2	180595428	missense	possibly damaging	0.70
R7111:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7201:Ogfr	UTSW	2	180595094	unclassified	probably benign
R7217:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7243:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7387:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7563:Ogfr	UTSW	2	180592507	critical splice donor site	probably null
R7681:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7844:Ogfr	UTSW	2	180595057	unclassified	probably benign
R7845:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7848:Ogfr	UTSW	2	180592433	missense	probably damaging	1.00
R7930:Ogfr	UTSW	2	180595266	unclassified	probably benign
R7985:Ogfr	UTSW	2	180595057	unclassified	probably benign
R8011:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8039:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8045:Ogfr	UTSW	2	180595057	unclassified	probably benign
R8094:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8339:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8464:Ogfr	UTSW	2	180595057	unclassified	probably benign
R8555:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8557:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8688:Ogfr	UTSW	2	180595057	unclassified	probably benign
R8703:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8856:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8886:Ogfr	UTSW	2	180595266	unclassified	probably benign
R8956:Ogfr	UTSW	2	180595057	unclassified	probably benign
R9098:Ogfr	UTSW	2	180595266	unclassified	probably benign
R9198:Ogfr	UTSW	2	180591057	critical splice donor site	probably null
R9227:Ogfr	UTSW	2	180595266	unclassified	probably benign
R9244:Ogfr	UTSW	2	180595266	unclassified	probably benign
R9340:Ogfr	UTSW	2	180595057	unclassified	probably benign
R9352:Ogfr	UTSW	2	180595266	unclassified	probably benign
R9462:Ogfr	UTSW	2	180595057	unclassified	probably benign
R9514:Ogfr	UTSW	2	180593624	missense	possibly damaging	0.61
R9612:Ogfr	UTSW	2	180595266	unclassified	probably benign
R9661:Ogfr	UTSW	2	180591638	missense	probably damaging	1.00
R9782:Ogfr	UTSW	2	180595266	unclassified	probably benign
RF022:Ogfr	UTSW	2	180595266	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAACAGCCCTGTCTTGTGG -3'
(R):5'- TTAGAGGCAGCTTGCTCTG -3'

Sequencing Primer
(F):5'- CAGCCCTGTCTTGTGGCTAGG -3'
(R):5'- CTCCACCTGGCTTTTGGGG -3'

Posted On

2022-06-15