Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Ogfr'

197699

Institutional Source

Beutler Lab

Gene Symbol

Ogfr

Ensembl Gene

ENSMUSG00000049401

Gene Name

opioid growth factor receptor

Synonyms

2010013E17Rik

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180231200-180237630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180236543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 376 (E376V)

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: E376V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: E376V

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

Meta Mutation Damage Score

0.1065

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,246,507 (GRCm39)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,884,540 (GRCm39)		probably benign	Het
5031439G07Rik	G	T	15: 84,837,345 (GRCm39)	P280T	probably damaging	Het
Abca2	C	T	2: 25,331,308 (GRCm39)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,684,126 (GRCm39)	R719S	probably benign	Het
Adam1a	A	T	5: 121,657,839 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,851 (GRCm39)		probably benign	Het
Adgrf3	G	A	5: 30,407,227 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,488,544 (GRCm39)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,525,752 (GRCm39)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,877,362 (GRCm39)	R291Q	probably benign	Het
Ano2	C	T	6: 125,773,227 (GRCm39)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,606,215 (GRCm39)	I125T	probably benign	Het
Arid1b	A	G	17: 5,293,197 (GRCm39)	D705G	probably damaging	Het
Asb18	T	A	1: 89,924,005 (GRCm39)	N86I	probably damaging	Het
Bicral	A	T	17: 47,135,519 (GRCm39)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,831,192 (GRCm39)	M253V	probably benign	Het
Braf	T	C	6: 39,642,017 (GRCm39)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,777,700 (GRCm39)	P716T	probably benign	Het
C7	T	A	15: 5,041,631 (GRCm39)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 95,632,714 (GRCm39)	K421R	probably benign	Het
Cep89	G	A	7: 35,120,388 (GRCm39)		probably null	Het
Chgb	A	T	2: 132,634,720 (GRCm39)	M221L	probably benign	Het
Chst14	A	G	2: 118,758,145 (GRCm39)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,331,152 (GRCm39)		probably null	Het
Clec12b	A	T	6: 129,357,603 (GRCm39)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,070,459 (GRCm39)	Y187*	probably null	Het
Crbn	T	C	6: 106,767,804 (GRCm39)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,811,762 (GRCm39)	Q201L	probably benign	Het
Ctrb1	G	T	8: 112,416,041 (GRCm39)		probably benign	Het
Cyp2c55	T	A	19: 38,999,525 (GRCm39)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,837,839 (GRCm39)	D414E	probably damaging	Het
Ddx47	T	C	6: 134,988,703 (GRCm39)		probably benign	Het
Dlg1	A	G	16: 31,661,640 (GRCm39)		probably null	Het
Dnah5	C	A	15: 28,230,609 (GRCm39)	S169*	probably null	Het
Dock4	C	A	12: 40,805,809 (GRCm39)	T927K	probably benign	Het
Esrp2	T	G	8: 106,860,453 (GRCm39)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,255,038 (GRCm39)	K418R	probably benign	Het
Fancm	A	T	12: 65,146,067 (GRCm39)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,771,385 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,463,582 (GRCm39)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,753,464 (GRCm39)	D486V	probably damaging	Het
Fech	C	T	18: 64,603,744 (GRCm39)		probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxp1	T	A	6: 98,955,181 (GRCm39)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,440,407 (GRCm39)	I138L	probably benign	Het
Gm12185	T	C	11: 48,806,501 (GRCm39)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,199,024 (GRCm39)		probably benign	Het
Gpd2	A	C	2: 57,245,786 (GRCm39)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,490,385 (GRCm39)	K20N	probably damaging	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hectd4	A	T	5: 121,487,235 (GRCm39)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,823,483 (GRCm39)		probably null	Het
Irx4	G	T	13: 73,413,695 (GRCm39)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,596,245 (GRCm39)		probably benign	Het
Lama3	T	C	18: 12,574,164 (GRCm39)	V582A	probably benign	Het
Ldhd	G	T	8: 112,353,925 (GRCm39)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,817,841 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,670,191 (GRCm39)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 65,909,722 (GRCm39)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,437,986 (GRCm39)	S21L	probably benign	Het
Mctp1	T	C	13: 76,973,392 (GRCm39)	V431A	probably benign	Het
Metap2	C	T	10: 93,707,345 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,920,536 (GRCm39)	K94*	probably null	Het
Micall2	A	G	5: 139,705,097 (GRCm39)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,927,673 (GRCm39)	T95A	possibly damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,873,574 (GRCm39)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,256,414 (GRCm39)	D105E	probably damaging	Het
Nrdc	T	A	4: 108,873,865 (GRCm39)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,777,458 (GRCm39)	I88F	probably damaging	Het
Nup160	A	T	2: 90,530,887 (GRCm39)	H515L	probably benign	Het
Nup205	G	A	6: 35,202,917 (GRCm39)		probably null	Het
Oas1g	G	A	5: 121,020,069 (GRCm39)	T179I	probably benign	Het
Or2l13	T	G	16: 19,306,378 (GRCm39)	S263R	probably benign	Het
Or4a69	A	T	2: 89,312,855 (GRCm39)	V208D	possibly damaging	Het
Or4c107	T	G	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Or52d1	G	T	7: 103,755,896 (GRCm39)	V137F	possibly damaging	Het
Or5p6	C	T	7: 107,631,595 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,384,188 (GRCm39)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,611,142 (GRCm39)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,290,825 (GRCm39)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,593,565 (GRCm39)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,763,344 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,304,173 (GRCm39)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,202,459 (GRCm39)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,746,220 (GRCm39)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,564,771 (GRCm39)		probably benign	Het
Sf3b3	A	T	8: 111,564,006 (GRCm39)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,239,646 (GRCm39)		probably null	Het
Shkbp1	A	T	7: 27,044,751 (GRCm39)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,021,685 (GRCm39)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,970,656 (GRCm39)	S332P	probably damaging	Het
Slit1	C	A	19: 41,596,823 (GRCm39)	C1092F	probably damaging	Het
Slx9	A	G	10: 77,333,360 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,533,678 (GRCm39)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,305,454 (GRCm39)	V185A	possibly damaging	Het
Taar9	A	T	10: 23,985,382 (GRCm39)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,814 (GRCm39)	E102G	probably damaging	Het
Tex44	A	G	1: 86,354,834 (GRCm39)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,986,665 (GRCm39)	V781I	probably benign	Het
Tonsl	C	T	15: 76,520,761 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,721,463 (GRCm39)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,391,171 (GRCm39)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,596,847 (GRCm39)	K875E	probably damaging	Het
Vapb	C	T	2: 173,603,905 (GRCm39)		probably benign	Het
Vmn1r223	A	G	13: 23,434,038 (GRCm39)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,129,496 (GRCm39)	V796I	probably damaging	Het
Wdr90	A	T	17: 26,073,027 (GRCm39)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,235,571 (GRCm39)	T615S	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
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
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'- TACACGCATCCTCAAGTCGCTG -3'
(R):5'- AGTGTTACTGGCTACTCCATCACCC -3'

Sequencing Primer
(F):5'- GGTTCAGGCCCCAGACTATATC -3'
(R):5'- GCTACTCCATCACCCTCAGC -3'

Posted On

2014-05-23