Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02602:Ogfr'

300110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ogfr

Ensembl Gene

ENSMUSG00000049401

Gene Name

opioid growth factor receptor

Synonyms

2010013E17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

IGL02602

Quality Score

Status

Chromosome

Chromosomal Location

180231200-180237630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180237230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 605 (D605G)

Ref Sequence

ENSEMBL: ENSMUSP00000029087 (fasta)

Gene Model

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

AlphaFold

Q99PG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029087
AA Change: D605G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: D605G

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: ENSMUST00000141056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147070

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	A	G	11: 94,461,291 (GRCm39)		probably benign	Het
Arhgap20	A	T	9: 51,737,143 (GRCm39)	I148F	probably damaging	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Cdk13	A	G	13: 17,901,745 (GRCm39)	F997L	probably damaging	Het
Cep162	G	A	9: 87,128,206 (GRCm39)	H170Y	probably benign	Het
Clasp1	T	C	1: 118,399,515 (GRCm39)	F220L	probably damaging	Het
Clock	C	A	5: 76,402,273 (GRCm39)	G129V	probably null	Het
Clock	C	T	5: 76,402,274 (GRCm39)	G129R	probably damaging	Het
Cybrd1	T	C	2: 70,948,492 (GRCm39)	L10P	probably damaging	Het
Cyp7a1	A	G	4: 6,272,871 (GRCm39)	I114T	possibly damaging	Het
Epha7	T	A	4: 28,871,877 (GRCm39)	V402D	possibly damaging	Het
Fam228a	G	A	12: 4,782,808 (GRCm39)	T95I	probably benign	Het
Gm7589	C	T	9: 59,053,441 (GRCm39)		noncoding transcript	Het
Klf4	C	A	4: 55,530,595 (GRCm39)	R172L	probably damaging	Het
Macf1	A	G	4: 123,248,956 (GRCm39)	S7190P	probably damaging	Het
Mga	A	G	2: 119,762,365 (GRCm39)	T1119A	possibly damaging	Het
Nmur2	T	A	11: 55,917,889 (GRCm39)	T367S	probably benign	Het
Or4f61	A	G	2: 111,922,906 (GRCm39)	F47L	probably benign	Het
Pcdhb1	A	T	18: 37,399,849 (GRCm39)	N600I	probably damaging	Het
Pkhd1l1	T	C	15: 44,421,327 (GRCm39)	S3032P	probably damaging	Het
Ppp2r5e	A	G	12: 75,540,213 (GRCm39)	L144P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Ryr2	T	C	13: 11,569,397 (GRCm39)		probably benign	Het
Scarb2	A	G	5: 92,596,415 (GRCm39)	Y410H	probably benign	Het
Slc12a1	A	G	2: 124,996,162 (GRCm39)	Y105C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stt3b	A	T	9: 115,105,846 (GRCm39)	S210T	probably damaging	Het
Sulf2	T	C	2: 165,923,220 (GRCm39)	H635R	probably benign	Het
Tmem167	C	A	13: 90,252,499 (GRCm39)	R52S	probably damaging	Het
Tsga13	G	A	6: 30,879,212 (GRCm39)	T167I	possibly damaging	Het
Txk	T	C	5: 72,865,063 (GRCm39)	R271G	possibly damaging	Het
Vmn1r191	T	C	13: 22,363,635 (GRCm39)	K40E	probably damaging	Het
Vmn1r69	T	A	7: 10,313,901 (GRCm39)	N277Y	probably benign	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
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
R0398:Ogfr	UTSW	2	180,235,492 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16