Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Nrbp1'

576808

Institutional Source

Beutler Lab

Gene Symbol

Nrbp1

Ensembl Gene

ENSMUSG00000029148

Gene Name

nuclear receptor binding protein 1

Synonyms

Nrbp, B230344L17Rik

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7439 (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 31402300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 172 (M172K)

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: M172K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: M172K

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 damaging
Transcript: ENSMUST00000202505
AA Change: M87K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148
AA Change: M87K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202576
AA Change: M172K

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

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: M172K

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: ENSMUST00000202842
AA Change: M87K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143899
Gene: ENSMUSG00000029148
AA Change: M87K

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dnaaf5	T	G	5: 139,151,868 (GRCm39)	C506W	probably damaging	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pcyt2	A	T	11: 120,502,209 (GRCm39)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,623,259 (GRCm39)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,813,224 (GRCm39)	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,781,132 (GRCm39)	R327*	probably null	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
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'- AAGTGGACATTTGCTTGCTTC -3'
(R):5'- TTAAAGGCTTGCAACAGACACC -3'

Sequencing Primer
(F):5'- GCTCTTAAGCCTAAGAAAGTGATAC -3'
(R):5'- CACACCACAACTCATGATACTTTCTC -3'

Posted On

2019-10-07