Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Nrbp1'

721896

Institutional Source

Beutler Lab

Gene Symbol

Nrbp1

Ensembl Gene

ENSMUSG00000029148

Gene Name

nuclear receptor binding protein 1

Synonyms

Nrbp, B230344L17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31398227-31408910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31401272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 49 (S49R)

Ref Sequence

ENSEMBL: ENSMUSP00000143872 (fasta)

Gene Model

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

AlphaFold

Q99J45

Predicted Effect

probably damaging
Transcript: ENSMUST00000031034
AA Change: S49R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: S49R

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 benign
Transcript: ENSMUST00000201259

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 damaging
Transcript: ENSMUST00000202576
AA Change: S49R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: S49R

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 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,687 (GRCm39)	T26I	probably benign	Het
Adgrg7	A	G	16: 56,570,813 (GRCm39)	L405P	probably damaging	Het
Ankle1	A	G	8: 71,859,424 (GRCm39)	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,401,536 (GRCm39)	D1609E		Het
Anpep	A	G	7: 79,476,661 (GRCm39)	V772A	probably benign	Het
Anxa8	T	C	14: 33,814,509 (GRCm39)	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,882,772 (GRCm39)	F216S	probably damaging	Het
Aplf	T	A	6: 87,640,781 (GRCm39)	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,209 (GRCm39)	Y120F		Het
Atg2a	T	A	19: 6,305,749 (GRCm39)	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,361,822 (GRCm39)	F743S	probably benign	Het
Best1	A	T	19: 9,970,331 (GRCm39)	W94R	probably damaging	Het
Catsper3	T	C	13: 55,953,669 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,915,449 (GRCm39)	E68D	probably benign	Het
Col8a1	T	A	16: 57,448,539 (GRCm39)	I324F	unknown	Het
Coro1c	G	A	5: 114,003,816 (GRCm39)	R68*	probably null	Het
Dennd4c	A	G	4: 86,747,208 (GRCm39)	D1464G	possibly damaging	Het
Dgat2	C	T	7: 98,818,926 (GRCm39)	V77I	possibly damaging	Het
Ecpas	G	A	4: 58,832,796 (GRCm39)	R855*	probably null	Het
Ednra	A	C	8: 78,393,961 (GRCm39)	N378K	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,534 (GRCm39)	D132G	unknown	Het
Eml5	A	T	12: 98,782,243 (GRCm39)	D178E	probably benign	Het
Ethe1	G	T	7: 24,293,236 (GRCm39)		probably benign	Het
Fgf21	C	T	7: 45,264,594 (GRCm39)	R46Q	probably damaging	Het
Flt3	C	T	5: 147,309,424 (GRCm39)	V198M	possibly damaging	Het
Fryl	T	C	5: 73,179,498 (GRCm39)	N2970D	probably benign	Het
Gtf2e2	T	A	8: 34,252,076 (GRCm39)	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,294,627 (GRCm39)	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,596,382 (GRCm39)	G188R	probably damaging	Het
Gzmc	A	C	14: 56,469,042 (GRCm39)	S226A	probably benign	Het
Hhatl	A	T	9: 121,613,282 (GRCm39)	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,512,812 (GRCm39)	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,794 (GRCm39)	W69R	probably benign	Het
Kcnk3	T	C	5: 30,779,433 (GRCm39)	L161P	possibly damaging	Het
Klk6	A	G	7: 43,477,967 (GRCm39)	D113G	probably damaging	Het
Map3k5	A	G	10: 19,876,314 (GRCm39)	I158V	probably benign	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mcc	T	C	18: 44,578,925 (GRCm39)	R828G	probably damaging	Het
Muc4	A	T	16: 32,569,695 (GRCm39)	T252S	possibly damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nme7	A	G	1: 164,206,961 (GRCm39)	D282G	probably benign	Het
Npdc1	G	T	2: 25,298,312 (GRCm39)	A228S	probably benign	Het
Ntan1	T	C	16: 13,637,248 (GRCm39)	V10A	possibly damaging	Het
Or10a3	A	G	7: 108,480,504 (GRCm39)	V103A	possibly damaging	Het
Or10b1	T	C	10: 78,356,084 (GRCm39)	V214A	probably benign	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Pdcd2l	T	C	7: 33,892,401 (GRCm39)	D156G	probably benign	Het
Pde11a	A	G	2: 75,877,157 (GRCm39)	S771P	probably damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,840,697 (GRCm39)	E1237V		Het
Pkp2	A	T	16: 16,078,278 (GRCm39)	T507S	possibly damaging	Het
Polm	A	G	11: 5,779,713 (GRCm39)	Y362H	probably damaging	Het
Pramel12	A	T	4: 143,144,514 (GRCm39)	M287L	probably benign	Het
Prcd	C	T	11: 116,550,583 (GRCm39)	S85F	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptger1	T	C	8: 84,395,461 (GRCm39)	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,227,217 (GRCm39)	E44G	probably damaging	Het
Rai1	A	G	11: 60,076,568 (GRCm39)	T211A	probably benign	Het
Rgl1	C	A	1: 152,430,082 (GRCm39)	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,007,087 (GRCm39)	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,597,978 (GRCm39)		probably null	Het
Selenon	C	T	4: 134,270,055 (GRCm39)	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,272,620 (GRCm39)	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,380,705 (GRCm39)	I544L	probably benign	Het
Smarca4	A	G	9: 21,580,849 (GRCm39)	E993G	probably damaging	Het
Stab1	T	A	14: 30,864,638 (GRCm39)	I1966F	probably benign	Het
Stard9	G	A	2: 120,534,714 (GRCm39)	S3657N	probably benign	Het
Tex15	G	A	8: 34,067,309 (GRCm39)	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,549,598 (GRCm39)	N264I	possibly damaging	Het
Use1	T	A	8: 71,820,473 (GRCm39)	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,659,236 (GRCm39)	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,614,718 (GRCm39)	I7V	probably benign	Het
Vps8	T	A	16: 21,462,953 (GRCm39)	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,300,006 (GRCm39)	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,088,844 (GRCm39)	T891I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCTGACTTTGCCCAACAAATG -3'
(R):5'- ACTTCAAGAAGCTGCCACTG -3'

Sequencing Primer
(F):5'- CAAATGCAGGCTGAGTGTTCATTC -3'
(R):5'- AGAAGCTGCCACTGTAGTATTCC -3'

Posted On

2022-08-09