Incidental Mutation 'R1341:Nrbp1'
ID 157036
Institutional Source Beutler Lab
Gene Symbol Nrbp1
Ensembl Gene ENSMUSG00000029148
Gene Name nuclear receptor binding protein 1
Synonyms Nrbp, B230344L17Rik
MMRRC Submission 039406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1341 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31398227-31408910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31403157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 210 (I210N)
Ref Sequence ENSEMBL: ENSMUSP00000143872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000068997] [ENSMUST00000202505] [ENSMUST00000202576] [ENSMUST00000201259] [ENSMUST00000202842]
AlphaFold Q99J45
Predicted Effect probably damaging
Transcript: ENSMUST00000031034
AA Change: I210N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
AA Change: I210N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 60 76 N/A INTRINSIC
low complexity region 78 101 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000078312
AA Change: I210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077426
Gene: ENSMUSG00000029148
AA Change: I210N

DomainStartEndE-ValueType
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 not run
Transcript: ENSMUST00000139602
AA Change: I194N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141973
AA Change: S309T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200722
Predicted Effect probably damaging
Transcript: ENSMUST00000202505
AA Change: I125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148
AA Change: I125N

DomainStartEndE-ValueType
STYKc 14 184 1.3e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202576
AA Change: I210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
AA Change: I210N

DomainStartEndE-ValueType
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: ENSMUST00000202875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202801
Predicted Effect probably benign
Transcript: ENSMUST00000201259
Predicted Effect probably benign
Transcript: ENSMUST00000202842
SMART Domains Protein: ENSMUSP00000143899
Gene: ENSMUSG00000029148

DomainStartEndE-ValueType
Pfam:Pkinase 2 88 4.8e-5 PFAM
Pfam:Pkinase_Tyr 3 88 1.8e-7 PFAM
Meta Mutation Damage Score 0.9745 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 96% (53/55)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0e2 A G 6: 48,517,045 (GRCm39) Y75C probably benign Het
Bltp3a T C 17: 28,096,393 (GRCm39) probably benign Het
Cacna1g A G 11: 94,324,582 (GRCm39) L1190P probably damaging Het
Ccdc190 A G 1: 169,757,586 (GRCm39) D15G probably damaging Het
Cep126 G T 9: 8,099,777 (GRCm39) P919Q possibly damaging Het
Cfhr4 T A 1: 139,660,131 (GRCm39) T665S probably damaging Het
Chchd6 A G 6: 89,361,623 (GRCm39) V260A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cramp1 T C 17: 25,196,514 (GRCm39) K867E probably damaging Het
Dnah6 A T 6: 73,168,602 (GRCm39) N440K probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17421 A T 12: 113,333,334 (GRCm39) noncoding transcript Het
H2bc13 T C 13: 21,900,280 (GRCm39) K12E probably benign Het
Hdac3 A G 18: 38,087,766 (GRCm39) V36A probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Itga10 G A 3: 96,559,811 (GRCm39) E489K probably damaging Het
Mgat5b A C 11: 116,869,223 (GRCm39) I589L probably benign Het
Mindy4 A G 6: 55,232,601 (GRCm39) N348S probably benign Het
Mmp15 A G 8: 96,098,931 (GRCm39) D586G probably benign Het
Mmp9 A G 2: 164,791,247 (GRCm39) D139G probably damaging Het
Morc2a C A 11: 3,630,216 (GRCm39) L471I possibly damaging Het
Mycbp2 T A 14: 103,536,303 (GRCm39) probably benign Het
Mylip T A 13: 45,559,412 (GRCm39) S105T probably damaging Het
Nat8f4 A T 6: 85,878,406 (GRCm39) L39Q probably damaging Het
Obscn T C 11: 58,920,198 (GRCm39) probably benign Het
Or10ak13 T C 4: 118,639,579 (GRCm39) T68A probably benign Het
Or11m3 G A 15: 98,396,135 (GRCm39) V261M possibly damaging Het
Or51k2 T A 7: 103,596,589 (GRCm39) V272D possibly damaging Het
Or5t7 T C 2: 86,507,507 (GRCm39) M57V possibly damaging Het
Or9k2 G T 10: 129,999,185 (GRCm39) D3E probably benign Het
Pramel29 T C 4: 143,934,129 (GRCm39) D326G probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rab11fip1 G T 8: 27,633,388 (GRCm39) A1106E probably damaging Het
Rfc1 A G 5: 65,448,537 (GRCm39) S363P probably damaging Het
Skint10 A G 4: 112,622,228 (GRCm39) probably benign Het
Spen T C 4: 141,196,711 (GRCm39) N3595D possibly damaging Het
Swsap1 A G 9: 21,868,450 (GRCm39) K241E probably benign Het
Tab1 A G 15: 80,044,315 (GRCm39) T448A possibly damaging Het
Tktl1 G T X: 73,241,289 (GRCm39) G302V probably damaging Het
Usp25 A G 16: 76,912,331 (GRCm39) T1017A probably benign Het
Vmn2r78 T A 7: 86,571,477 (GRCm39) M429K possibly damaging Het
Wdr49 A T 3: 75,336,640 (GRCm39) F356I probably damaging Het
Wnt1 T C 15: 98,689,764 (GRCm39) F184L probably damaging Het
Yy1 T C 12: 108,759,445 (GRCm39) I36T unknown Het
Zbtb39 A G 10: 127,579,369 (GRCm39) I648V possibly damaging Het
Other mutations in Nrbp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9570:Nrbp1 UTSW 5 31,401,272 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGAGAGCTGGCCCTTACTCTTCTTAAC -3'
(R):5'- TTTGGCCCGAAGGACTAGAGTCAGAC -3'

Sequencing Primer
(F):5'- ACCCTTGGGTTCCCCCTG -3'
(R):5'- GAAGGACTAGAGTCAGACCTCATATC -3'
Posted On 2014-02-11