Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Nrbp1'

222635

Institutional Source

Beutler Lab

Gene Symbol

Nrbp1

Ensembl Gene

ENSMUSG00000029148

Gene Name

nuclear receptor binding protein 1

Synonyms

Nrbp, B230344L17Rik

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31398227-31408910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31402735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 185 (L185P)

Ref Sequence

ENSEMBL: ENSMUSP00000143872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000068997] [ENSMUST00000201259] [ENSMUST00000202576] [ENSMUST00000202505] [ENSMUST00000202842]

AlphaFold

Q99J45

Predicted Effect

probably damaging
Transcript: ENSMUST00000031034
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: L185P

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: ENSMUST00000068997

SMART Domains

Protein: ENSMUSP00000070496
Gene: ENSMUSG00000055424

Domain	Start	End	E-Value	Type
low complexity region	60	76	N/A	INTRINSIC
low complexity region	78	101	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000078312
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077426
Gene: ENSMUSG00000029148
AA Change: L185P

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

probably damaging
Transcript: ENSMUST00000202576
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: L185P

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

probably damaging
Transcript: ENSMUST00000202505
AA Change: L100P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148
AA Change: L100P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 8,992,615 (GRCm39)	D4633V	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 98,103,604 (GRCm39)	M803V	probably benign	Het
Bltp1	T	A	3: 37,008,134 (GRCm39)		probably null	Het
Bltp2	A	T	11: 78,158,993 (GRCm39)	Q433L	probably damaging	Het
Ccdc73	T	A	2: 104,761,390 (GRCm39)	L130*	probably null	Het
Ccdc73	A	G	2: 104,829,504 (GRCm39)	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,456,708 (GRCm39)	S151R	possibly damaging	Het
Cep128	T	A	12: 91,197,603 (GRCm39)	H406L	probably benign	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cpvl	T	A	6: 53,931,596 (GRCm39)	D103V	probably benign	Het
Crppa	T	A	12: 36,571,995 (GRCm39)	L301Q	probably damaging	Het
Cstdc6	C	A	16: 36,142,194 (GRCm39)	G61C	probably damaging	Het
Disp3	G	A	4: 148,343,210 (GRCm39)	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,072,027 (GRCm39)	Y2433C	probably damaging	Het
Dock3	A	G	9: 106,985,620 (GRCm39)	I85T	probably benign	Het
Dock9	A	C	14: 121,829,242 (GRCm39)	S1380A	probably benign	Het
Erbin	T	C	13: 104,022,711 (GRCm39)	T43A	probably benign	Het
Fastkd3	T	C	13: 68,733,360 (GRCm39)	V502A	possibly damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Fsd2	A	G	7: 81,209,407 (GRCm39)	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,206,153 (GRCm39)	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,618,455 (GRCm39)	R116G	probably damaging	Het
Grm7	T	A	6: 110,891,472 (GRCm39)	V235E	probably damaging	Het
Hdac4	A	C	1: 91,862,367 (GRCm39)	N1002K	probably damaging	Het
Hey1	C	T	3: 8,729,957 (GRCm39)	A167T	probably benign	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Ints2	A	T	11: 86,108,626 (GRCm39)	V907D	probably benign	Het
Jchain	T	A	5: 88,669,326 (GRCm39)	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,693,335 (GRCm39)	Y537*	probably null	Het
Klra1	C	T	6: 130,354,742 (GRCm39)	S92N	probably benign	Het
Krt31	C	T	11: 99,940,406 (GRCm39)	G150S	probably benign	Het
Lrrc71	G	A	3: 87,649,950 (GRCm39)	T326M	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Map4k5	T	G	12: 69,889,686 (GRCm39)	R198S	probably damaging	Het
Men1	G	A	19: 6,388,867 (GRCm39)	C354Y	probably damaging	Het
Ms4a18	A	T	19: 10,991,019 (GRCm39)	V25E	probably damaging	Het
Mutyh	T	A	4: 116,676,565 (GRCm39)	S512R	possibly damaging	Het
Myh10	G	T	11: 68,705,322 (GRCm39)	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,538,624 (GRCm39)	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,077,481 (GRCm39)	M767T	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,577,035 (GRCm39)	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,592,370 (GRCm39)	T1209S	probably benign	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Preb	T	C	5: 31,116,157 (GRCm39)	D150G	probably damaging	Het
Prrt2	A	G	7: 126,617,902 (GRCm39)	V59A	probably benign	Het
Prss40	T	C	1: 34,597,095 (GRCm39)	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,400,818 (GRCm39)	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,608,241 (GRCm39)	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,731,952 (GRCm39)	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 7,263,876 (GRCm39)	V87E	probably benign	Het
Rnf213	G	A	11: 119,331,933 (GRCm39)	E2381K	probably damaging	Het
Sectm1a	A	T	11: 120,960,506 (GRCm39)	I103N	probably damaging	Het
Selp	T	A	1: 163,970,327 (GRCm39)	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,433,209 (GRCm39)	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Setd1b	A	T	5: 123,285,769 (GRCm39)	T272S	unknown	Het
Sgf29	G	C	7: 126,248,649 (GRCm39)		probably null	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,250,214 (GRCm39)	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,600,863 (GRCm39)	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,785,976 (GRCm39)	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,425,846 (GRCm39)	V490A	possibly damaging	Het
Tbpl2	A	T	2: 23,984,744 (GRCm39)	F133L	probably benign	Het
Tnfrsf22	T	C	7: 143,192,126 (GRCm39)		probably benign	Het
Top2b	A	G	14: 16,398,916 (GRCm38)	E512G	probably damaging	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Ttc17	T	A	2: 94,194,690 (GRCm39)	H561L	probably benign	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 103,797,692 (GRCm39)	Y602H	probably benign	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Wbp11	A	G	6: 136,797,583 (GRCm39)	S279P	probably damaging	Het
Wdr6	A	G	9: 108,453,733 (GRCm39)	L50P	probably damaging	Het
Zfp715	A	C	7: 42,948,073 (GRCm39)	I629S	possibly 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
R2079:Nrbp1	UTSW	5	31,408,417 (GRCm39)	missense	probably benign	0.08
R2142:Nrbp1	UTSW	5	31,405,273 (GRCm39)	missense	possibly damaging	0.95
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'- TGCAAGCCTTTAATTCAGAAGG -3'
(R):5'- ATCAGGAGGACCCCATAAGG -3'

Sequencing Primer
(F):5'- GTGGTCTACATAGTTTCAGGACACC -3'
(R):5'- CCATAAGGGGGTCTAATCTTGTCAGC -3'

Posted On

2014-08-25