Incidental Mutation 'R1193:Nrbp1'
ID 100931
Institutional Source Beutler Lab
Gene Symbol Nrbp1
Ensembl Gene ENSMUSG00000029148
Gene Name nuclear receptor binding protein 1
Synonyms Nrbp, B230344L17Rik
MMRRC Submission 039265-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1193 (G1)
Quality Score 225
Status Not 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: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A G 3: 32,766,293 (GRCm39) D49G probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Gpm6a A T 8: 55,500,268 (GRCm39) probably null Het
Nudt5 G A 2: 5,868,411 (GRCm39) S103N probably benign Het
Or5an9 A T 19: 12,187,803 (GRCm39) Y291F probably damaging Het
Or6z3 A G 7: 6,463,715 (GRCm39) N69S probably benign Het
Pds5a G T 5: 65,795,145 (GRCm39) A697E probably damaging Het
Pik3ca A G 3: 32,510,242 (GRCm39) D806G probably damaging Het
Rars1 C T 11: 35,700,153 (GRCm39) A548T possibly damaging Het
Rfk C T 19: 17,372,685 (GRCm39) P69L probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sp4 C T 12: 118,262,981 (GRCm39) R355H possibly damaging Het
Tcaim T C 9: 122,647,895 (GRCm39) Y137H probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmem150c T C 5: 100,231,451 (GRCm39) T175A probably damaging Het
Twnk A G 19: 44,996,229 (GRCm39) K221E probably damaging Het
Vmn2r67 T C 7: 84,800,653 (GRCm39) K428E probably damaging Het
Vmn2r82 T A 10: 79,213,739 (GRCm39) Y108* probably null Het
Wwox G A 8: 115,406,614 (GRCm39) V202M probably benign 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
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
R9570:Nrbp1 UTSW 5 31,401,272 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCCCAGTTTCTTTGAGTCACAT -3'
(R):5'- ACCTCAAAATTTGCTGTTCTCCC -3'

Sequencing Primer
(F):5'- CATGCTGACAAGATTAGACC -3'
(R):5'- CCCATGCCTTTTATCTTACC -3'
Posted On 2014-01-15