Mutagenetix > Incidental Mutation

Incidental Mutation 'R1313:Ogfr'

175049

Institutional Source

Beutler Lab

Gene Symbol

Ogfr

Ensembl Gene

ENSMUSG00000049401

Gene Name

opioid growth factor receptor

Synonyms

2010013E17Rik

MMRRC Submission

039379-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R1313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180231200-180237630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180236423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 336 (L336P)

Ref Sequence

ENSEMBL: ENSMUSP00000029087 (fasta)

Gene Model

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

AlphaFold

Q99PG2

Predicted Effect

probably benign
Transcript: ENSMUST00000029087
AA Change: L336P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: L336P

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

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.7%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle1	A	G	8: 71,859,857 (GRCm39)	E145G	possibly damaging	Het
Bltp2	A	G	11: 78,156,498 (GRCm39)	T226A	probably benign	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Cep250	C	T	2: 155,813,999 (GRCm39)	A589V	probably damaging	Het
Clhc1	A	G	11: 29,521,678 (GRCm39)	I404V	probably benign	Het
Ddi1	T	C	9: 6,265,769 (GRCm39)	E200G	probably damaging	Het
Dmxl1	T	C	18: 50,011,550 (GRCm39)	S1236P	probably damaging	Het
Dpyd	G	T	3: 118,692,810 (GRCm39)		probably benign	Het
Ercc6	C	T	14: 32,274,677 (GRCm39)		probably benign	Het
Gatb	A	G	3: 85,561,133 (GRCm39)	I550V	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hnrnpul1	G	T	7: 25,422,341 (GRCm39)		probably benign	Het
Ints1	T	C	5: 139,748,661 (GRCm39)	T1049A	probably benign	Het
Lilrb4a	C	T	10: 51,356,832 (GRCm39)	T6I	probably benign	Het
Mocs1	A	T	17: 49,761,297 (GRCm39)	T464S	probably benign	Het
Myo15b	T	C	11: 115,775,955 (GRCm39)	S816P	probably damaging	Het
Or5p53	A	T	7: 107,532,975 (GRCm39)	M83L	probably benign	Het
Psapl1	C	A	5: 36,362,610 (GRCm39)	Q401K	probably benign	Het
Rps26-ps1	T	A	8: 108,166,089 (GRCm39)		probably benign	Het
Sh3rf3	C	A	10: 58,907,821 (GRCm39)	Q450K	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stat1	C	T	1: 52,195,165 (GRCm39)	T720I	probably damaging	Het
Vav1	G	A	17: 57,616,498 (GRCm39)		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
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
R0398:Ogfr	UTSW	2	180,235,492 (GRCm39)	missense	probably damaging	0.99
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'- TTCAAGCCTCGCCGAGAGTTTGTC -3'
(R):5'- AGTGTTACTGGCTACTCCATCACCC -3'

Sequencing Primer
(F):5'- CCGAGAGTTTGTCTGGGG -3'
(R):5'- CAAGGTTGAGGGCAATTTTCTCTAC -3'

Posted On

2014-04-24