Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Ogfr'

357161

Institutional Source

Beutler Lab

Gene Symbol

Ogfr

Ensembl Gene

ENSMUSG00000049401

Gene Name

opioid growth factor receptor

Synonyms

2010013E17Rik

MMRRC Submission

042029-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R4747 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

180231200-180237630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180236216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 267 (H267L)

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: H267L

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

SMART Domains

Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: H267L

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,227,615 (GRCm39)	K541R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Klra17	T	A	6: 129,849,232 (GRCm39)	D114V	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,809,799 (GRCm39)	Q751K	probably benign	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,575,072 (GRCm39)	F613I	probably benign	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Sbf1	C	T	15: 89,186,916 (GRCm39)	D821N	probably damaging	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	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
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
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'- TACACGCATCCTCAAGTCGC -3'
(R):5'- GAGATCCTCAGCTGTTCCAC -3'

Sequencing Primer
(F):5'- ATCCTCAAGTCGCTGGGC -3'
(R):5'- ACTCAGGTCCCTTCCAGATC -3'

Posted On

2015-11-11