Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Nrbp1'

236352

Institutional Source

Beutler Lab

Gene Symbol

Nrbp1

Ensembl Gene

ENSMUSG00000029148

Gene Name

nuclear receptor binding protein 1

Synonyms

Nrbp, B230344L17Rik

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31398227-31408910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31405273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 287 (E287G)

Ref Sequence

ENSEMBL: ENSMUSP00000143872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000054829] [ENSMUST00000201259] [ENSMUST00000202576] [ENSMUST00000202842] [ENSMUST00000202505] [ENSMUST00000201625] [ENSMUST00000201937]

AlphaFold

Q99J45

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031034
AA Change: E279G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: E279G

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054829

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	211	8.6e-80	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078312
AA Change: E287G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077426
Gene: ENSMUSG00000029148
AA Change: E287G

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

probably benign
Transcript: ENSMUST00000201259

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202576
AA Change: E287G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: E287G

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Predicted Effect

probably benign
Transcript: ENSMUST00000202842

SMART Domains

Protein: ENSMUSP00000143899
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
Pfam:Pkinase	2	88	4.8e-5	PFAM
Pfam:Pkinase_Tyr	3	88	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202505

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
STYKc	14	184	1.3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201625

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201937

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Adgrb3	G	T	1: 25,107,290 (GRCm39)	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Angpt2	T	C	8: 18,764,156 (GRCm39)	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,059,871 (GRCm39)	K236*	probably null	Het
Baz1b	G	A	5: 135,246,129 (GRCm39)	R526H	probably damaging	Het
Bltp3b	A	G	10: 89,647,910 (GRCm39)	D207G	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Btnl9	G	T	11: 49,061,453 (GRCm39)		probably null	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cdh8	C	A	8: 99,838,325 (GRCm39)	C505F	probably damaging	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Ces1c	T	A	8: 93,857,468 (GRCm39)	I38F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,363,965 (GRCm39)	H546R	probably damaging	Het
Crot	A	T	5: 9,037,780 (GRCm39)	Y179N	possibly damaging	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Ddb1	T	C	19: 10,596,490 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Elf2	A	G	3: 51,163,861 (GRCm39)	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fbn1	T	G	2: 125,254,628 (GRCm39)	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,381,609 (GRCm39)	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,667,198 (GRCm39)	T307A	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm266	C	T	12: 111,451,615 (GRCm39)	R197K	possibly damaging	Het
Gns	G	A	10: 121,228,683 (GRCm39)	R498H	probably damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Grk6	T	C	13: 55,602,177 (GRCm39)	W335R	probably damaging	Het
Helz2	T	C	2: 180,873,173 (GRCm39)	E2379G	probably benign	Het
Hmx2	A	T	7: 131,157,588 (GRCm39)	D234V	probably damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ipo9	CCT	CCTTCT	1: 135,314,020 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Itpkc	A	G	7: 26,919,075 (GRCm39)	V397A	possibly damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kdr	T	C	5: 76,129,083 (GRCm39)	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,811,094 (GRCm39)	N338S	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Micall1	T	C	15: 79,014,995 (GRCm39)	Y751H	probably damaging	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myh2	A	G	11: 67,080,158 (GRCm39)	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nup188	T	A	2: 30,226,718 (GRCm39)	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or2y13	A	G	11: 49,414,666 (GRCm39)	I39V	probably benign	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k48	C	A	2: 111,475,566 (GRCm39)	V259L	probably benign	Het
Or51a10	C	T	7: 103,699,507 (GRCm39)	G18D	probably damaging	Het
Or6c1b	A	G	10: 129,273,616 (GRCm39)	K312E	probably benign	Het
Or9g3	C	T	2: 85,590,021 (GRCm39)	R233H	probably benign	Het
Panx3	G	C	9: 37,577,969 (GRCm39)	S87W	probably damaging	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,555,176 (GRCm39)	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,645 (GRCm39)	G605V	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,594,119 (GRCm39)	K1331N	probably benign	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,043 (GRCm39)		probably null	Het
Prb1a	T	A	6: 132,184,166 (GRCm39)	Q489L	unknown	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psme4	A	G	11: 30,770,998 (GRCm39)	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,314,210 (GRCm39)		probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rit2	A	G	18: 31,286,766 (GRCm39)	F140L	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rorc	G	A	3: 94,296,833 (GRCm39)	R271Q	probably benign	Het
Sall3	A	T	18: 81,013,046 (GRCm39)	M1130K	probably damaging	Het
Sart3	T	C	5: 113,902,154 (GRCm39)	E141G	probably damaging	Het
Serpina9	T	C	12: 103,974,568 (GRCm39)	D195G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tars3	A	T	7: 65,308,645 (GRCm39)	I272L	probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,734,206 (GRCm39)	H294Y	probably benign	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tigd4	A	G	3: 84,501,670 (GRCm39)	T196A	possibly damaging	Het
Treh	G	A	9: 44,592,438 (GRCm39)	M54I	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,213,653 (GRCm39)	I4T	probably damaging	Het
Zfp638	T	A	6: 83,963,578 (GRCm39)	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,856,311 (GRCm39)	H333N	probably damaging	Het

Other mutations in Nrbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Nrbp1	APN	5	31,408,403 (GRCm39)	missense	possibly damaging	0.74
IGL00926:Nrbp1	APN	5	31,401,141 (GRCm39)	missense	probably benign	0.07
Ghetto	UTSW	5	31,403,190 (GRCm39)	critical splice donor site	probably null
pudong	UTSW	5	31,407,481 (GRCm39)	missense	probably damaging	1.00
Shanghai	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R0358:Nrbp1	UTSW	5	31,402,231 (GRCm39)	missense	probably damaging	1.00
R0993:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1139:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1177:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1179:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1180:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1193:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1194:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1196:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1267:Nrbp1	UTSW	5	31,407,934 (GRCm39)	missense	probably benign	0.00
R1302:Nrbp1	UTSW	5	31,407,233 (GRCm39)	missense	probably benign	0.00
R1320:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1321:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1322:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1323:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1323:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1324:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1325:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1341:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1388:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1411:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1448:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1697:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1815:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1816:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1950:Nrbp1	UTSW	5	31,403,157 (GRCm39)	missense	probably damaging	1.00
R1987:Nrbp1	UTSW	5	31,402,735 (GRCm39)	missense	probably damaging	1.00
R2079:Nrbp1	UTSW	5	31,408,417 (GRCm39)	missense	probably benign	0.08
R4299:Nrbp1	UTSW	5	31,407,943 (GRCm39)	critical splice donor site	probably null
R5115:Nrbp1	UTSW	5	31,401,059 (GRCm39)	nonsense	probably null
R5168:Nrbp1	UTSW	5	31,407,481 (GRCm39)	missense	probably damaging	1.00
R5640:Nrbp1	UTSW	5	31,406,929 (GRCm39)	missense	possibly damaging	0.96
R6765:Nrbp1	UTSW	5	31,403,190 (GRCm39)	critical splice donor site	probably null
R7022:Nrbp1	UTSW	5	31,401,825 (GRCm39)	missense	probably damaging	1.00
R7044:Nrbp1	UTSW	5	31,407,290 (GRCm39)	missense	probably damaging	0.98
R7439:Nrbp1	UTSW	5	31,402,300 (GRCm39)	missense	probably damaging	1.00
R8161:Nrbp1	UTSW	5	31,401,193 (GRCm39)	nonsense	probably null
R8170:Nrbp1	UTSW	5	31,403,147 (GRCm39)	missense	probably damaging	1.00
R9561:Nrbp1	UTSW	5	31,404,771 (GRCm39)	critical splice donor site	probably null
R9570:Nrbp1	UTSW	5	31,401,272 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTGGACATCTACTCCTTTGGC -3'
(R):5'- ACCTGTGTGCCTAGAATCAAAAG -3'

Sequencing Primer
(F):5'- GGACATCTACTCCTTTGGCATGTG -3'
(R):5'- GCCTAGAATCAAAAGTTTCTCAGAG -3'

Posted On

2014-10-01