Mutagenetix > Incidental Mutation

Incidental Mutation 'R0398:Ogfr'

32106

Institutional Source

Beutler Lab

Gene Symbol

Ogfr

Ensembl Gene

ENSMUSG00000049401

Gene Name

opioid growth factor receptor

Synonyms

2010013E17Rik

MMRRC Submission

038603-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R0398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180231200-180237630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 180235492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 189 (R189G)

Ref Sequence

ENSEMBL: ENSMUSP00000029087 (fasta)

Gene Model

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

AlphaFold

Q99PG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029087
AA Change: R189G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: R189G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147070

Meta Mutation Damage Score

0.8650

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 83.2%

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 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,117,010 (GRCm39)	Q546R	probably null	Het
Acr	T	G	15: 89,458,144 (GRCm39)	V275G	probably damaging	Het
Adam5	A	G	8: 25,303,448 (GRCm39)	Y160H	probably benign	Het
Adcy5	T	A	16: 35,089,438 (GRCm39)	M545K	probably damaging	Het
Aoc2	A	G	11: 101,216,379 (GRCm39)	E154G	possibly damaging	Het
Atg2a	T	G	19: 6,296,608 (GRCm39)	L338R	probably damaging	Het
Atp2a1	T	C	7: 126,049,590 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,644,866 (GRCm39)	S436P	probably benign	Het
Bpnt1	T	C	1: 185,070,355 (GRCm39)	Y16H	probably benign	Het
Cbll1	A	T	12: 31,542,091 (GRCm39)	F90Y	probably damaging	Het
Cbs	G	T	17: 31,836,216 (GRCm39)	Q411K	probably benign	Het
Cdca2	A	C	14: 67,935,411 (GRCm39)	F435V	probably damaging	Het
Cdh13	T	G	8: 120,040,786 (GRCm39)	S664A	probably damaging	Het
Cdk17	T	A	10: 93,073,702 (GRCm39)	V438E	probably benign	Het
Cep295	T	C	9: 15,266,032 (GRCm39)	D40G	possibly damaging	Het
Col6a1	T	C	10: 76,545,952 (GRCm39)	H840R	unknown	Het
Cpa1	A	G	6: 30,645,250 (GRCm39)	T409A	probably benign	Het
Crlf1	G	A	8: 70,951,739 (GRCm39)		probably benign	Het
E2f2	T	A	4: 135,907,855 (GRCm39)	I184N	probably damaging	Het
Ehbp1	T	C	11: 22,045,886 (GRCm39)	D596G	probably damaging	Het
Elapor2	A	G	5: 9,495,367 (GRCm39)	R724G	probably benign	Het
Ets2	A	G	16: 95,517,267 (GRCm39)	Y333C	probably damaging	Het
Fam178b	A	G	1: 36,671,487 (GRCm39)		probably benign	Het
Fndc3b	A	G	3: 27,515,928 (GRCm39)	V626A	probably benign	Het
Gart	G	T	16: 91,436,337 (GRCm39)	A140E	probably damaging	Het
Gbp7	T	C	3: 142,251,274 (GRCm39)	S477P	possibly damaging	Het
Gm16380	T	C	9: 53,791,453 (GRCm39)		noncoding transcript	Het
Hmcn1	C	A	1: 150,674,565 (GRCm39)	R579M	possibly damaging	Het
Hoxb8	A	C	11: 96,173,937 (GRCm39)	H50P	probably damaging	Het
Hspa4	C	T	11: 53,163,706 (GRCm39)		probably null	Het
Hspa4l	G	A	3: 40,711,429 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,756,670 (GRCm39)	Y296F	probably damaging	Het
Igsf8	C	A	1: 172,145,066 (GRCm39)	T131K	probably damaging	Het
Ilvbl	C	T	10: 78,415,373 (GRCm39)	P298L	probably damaging	Het
Jak2	T	A	19: 29,259,788 (GRCm39)	I229N	possibly damaging	Het
Kif1b	T	C	4: 149,288,688 (GRCm39)	D1205G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,910 (GRCm39)	R74G	probably benign	Het
Lvrn	A	G	18: 47,013,760 (GRCm39)	T481A	probably benign	Het
Macf1	T	A	4: 123,244,810 (GRCm39)	T7312S	probably damaging	Het
Magel2	C	T	7: 62,030,299 (GRCm39)	Q1068*	probably null	Het
Mrpl3	A	G	9: 104,941,302 (GRCm39)	Y203C	probably damaging	Het
Nek2	T	A	1: 191,559,473 (GRCm39)	I326N	probably benign	Het
Nlrc4	A	C	17: 74,752,915 (GRCm39)	N489K	probably damaging	Het
Nlrp4f	A	T	13: 65,342,732 (GRCm39)	S304R	possibly damaging	Het
Or52b4i	T	A	7: 102,191,899 (GRCm39)	L252H	probably damaging	Het
Or5p78	T	A	7: 108,212,162 (GRCm39)	I216N	probably benign	Het
Or5w8	A	T	2: 87,688,401 (GRCm39)	N294I	probably damaging	Het
Orm3	A	G	4: 63,275,885 (GRCm39)	S145G	probably benign	Het
Pclo	A	G	5: 14,731,716 (GRCm39)	E3406G	unknown	Het
Pcx	T	G	19: 4,651,638 (GRCm39)	F4C	probably benign	Het
Pgd	C	A	4: 149,238,339 (GRCm39)	G364V	probably damaging	Het
Pla2g12a	C	A	3: 129,684,045 (GRCm39)	D102E	probably benign	Het
Pnpo	A	T	11: 96,833,253 (GRCm39)	C82*	probably null	Het
Prdm1	T	C	10: 44,315,805 (GRCm39)	N792S	probably damaging	Het
Prim2	A	T	1: 33,523,757 (GRCm39)		probably benign	Het
Proca1	C	A	11: 78,096,094 (GRCm39)	P242Q	probably benign	Het
Psmc5	A	G	11: 106,152,370 (GRCm39)	N129S	probably benign	Het
Ptchd4	A	G	17: 42,688,150 (GRCm39)	T231A	possibly damaging	Het
Qrfpr	C	T	3: 36,235,201 (GRCm39)		probably benign	Het
Rab44	G	A	17: 29,364,344 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,526,508 (GRCm39)		probably benign	Het
Rapgef4	A	G	2: 71,861,385 (GRCm39)	E25G	probably damaging	Het
Rpl8	G	C	15: 76,789,246 (GRCm39)		probably benign	Het
Samd12	G	A	15: 53,583,116 (GRCm39)	P73S	possibly damaging	Het
Samd9l	T	A	6: 3,374,502 (GRCm39)	N920Y	probably damaging	Het
Sdk1	T	C	5: 141,948,476 (GRCm39)	V607A	probably benign	Het
Slc25a19	A	G	11: 115,508,401 (GRCm39)	Y196H	probably damaging	Het
Slc39a3	A	T	10: 80,869,621 (GRCm39)	M12K	possibly damaging	Het
Slc5a4a	T	C	10: 76,018,556 (GRCm39)	I501T	possibly damaging	Het
Sp4	A	T	12: 118,262,408 (GRCm39)	V546D	possibly damaging	Het
Ssh3	C	T	19: 4,313,727 (GRCm39)	V511M	possibly damaging	Het
Stard9	T	G	2: 120,526,788 (GRCm39)	V1015G	probably benign	Het
Thoc5	G	T	11: 4,871,978 (GRCm39)	V516F	possibly damaging	Het
Ttc21a	T	A	9: 119,783,628 (GRCm39)	I570N	probably damaging	Het
Ttc4	T	C	4: 106,524,770 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Yipf3	A	G	17: 46,562,411 (GRCm39)	E298G	possibly damaging	Het
Zbtb34	C	A	2: 33,301,060 (GRCm39)	E494*	probably null	Het
Zfhx3	A	G	8: 109,677,878 (GRCm39)	Y2976C	probably damaging	Het

Other mutations in Ogfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Ogfr	APN	2	180,235,355 (GRCm39)	unclassified	probably benign
IGL02437:Ogfr	APN	2	180,231,329 (GRCm39)	missense	possibly damaging	0.72
IGL02602:Ogfr	APN	2	180,237,230 (GRCm39)	missense	possibly damaging	0.85
IGL02609:Ogfr	APN	2	180,234,308 (GRCm39)	splice site	probably benign
IGL03297:Ogfr	APN	2	180,236,200 (GRCm39)	missense	possibly damaging	0.93
BB017:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
PIT4812001:Ogfr	UTSW	2	180,237,304 (GRCm39)	missense	possibly damaging	0.93
R0085:Ogfr	UTSW	2	180,232,830 (GRCm39)	splice site	probably null
R1313:Ogfr	UTSW	2	180,236,423 (GRCm39)	missense	probably benign
R1313:Ogfr	UTSW	2	180,236,423 (GRCm39)	missense	probably benign
R1468:Ogfr	UTSW	2	180,236,543 (GRCm39)	missense	probably damaging	1.00
R1468:Ogfr	UTSW	2	180,236,543 (GRCm39)	missense	probably damaging	1.00
R4747:Ogfr	UTSW	2	180,236,216 (GRCm39)	missense	probably damaging	0.99
R4902:Ogfr	UTSW	2	180,235,518 (GRCm39)	unclassified	probably benign
R5422:Ogfr	UTSW	2	180,237,068 (GRCm39)	missense	probably benign	0.02
R5422:Ogfr	UTSW	2	180,237,067 (GRCm39)	missense	possibly damaging	0.63
R5860:Ogfr	UTSW	2	180,234,285 (GRCm39)	missense	probably damaging	1.00
R5988:Ogfr	UTSW	2	180,236,026 (GRCm39)	missense	probably damaging	1.00
R6015:Ogfr	UTSW	2	180,236,467 (GRCm39)	missense	probably damaging	1.00
R6558:Ogfr	UTSW	2	180,237,197 (GRCm39)	missense	possibly damaging	0.93
R6721:Ogfr	UTSW	2	180,237,221 (GRCm39)	missense	possibly damaging	0.70
R7111:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7201:Ogfr	UTSW	2	180,236,887 (GRCm39)	unclassified	probably benign
R7217:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7243:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7387:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7563:Ogfr	UTSW	2	180,234,300 (GRCm39)	critical splice donor site	probably null
R7681:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7844:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R7845:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7848:Ogfr	UTSW	2	180,234,226 (GRCm39)	missense	probably damaging	1.00
R7930:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R7985:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R8011:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8039:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8045:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R8094:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8339:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8464:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R8555:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8557:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8688:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R8703:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8856:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8886:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R8956:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R9098:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R9198:Ogfr	UTSW	2	180,232,850 (GRCm39)	critical splice donor site	probably null
R9227:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R9244:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R9340:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R9352:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R9440:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R9462:Ogfr	UTSW	2	180,236,850 (GRCm39)	unclassified	probably benign
R9514:Ogfr	UTSW	2	180,235,417 (GRCm39)	missense	possibly damaging	0.61
R9612:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
R9661:Ogfr	UTSW	2	180,233,431 (GRCm39)	missense	probably damaging	1.00
R9782:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign
RF022:Ogfr	UTSW	2	180,237,059 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGGCTGAATCAGGGTCTAAGGG -3'
(R):5'- AGCCAAGGAACTGCTTTGTCCATC -3'

Sequencing Primer
(F):5'- GGGTCTAAGGGAAAAATCACCCTAC -3'
(R):5'- AATTTCTACAACACCTCTATCCTGAG -3'

Posted On

2013-04-24