Incidental Mutation 'R1322:Nrbp1'
ID 157708
Institutional Source Beutler Lab
Gene Symbol Nrbp1
Ensembl Gene ENSMUSG00000029148
Gene Name nuclear receptor binding protein 1
Synonyms Nrbp, B230344L17Rik
MMRRC Submission 039388-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1322 (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: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.5%
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
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Col27a1 A C 4: 63,246,803 (GRCm39) probably benign Het
Fam184a G T 10: 53,528,415 (GRCm39) D815E probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gpr162 G T 6: 124,835,864 (GRCm39) T512K probably damaging Het
Hipk1 A T 3: 103,651,297 (GRCm39) S1155R probably damaging Het
Itih2 A G 2: 10,114,333 (GRCm39) V417A probably damaging Het
Kmt2a A G 9: 44,732,418 (GRCm39) probably benign Het
Mecom G T 3: 30,011,522 (GRCm39) P670Q probably damaging Het
Mgat4d A G 8: 84,092,354 (GRCm39) T247A possibly damaging Het
Or7g18 T C 9: 18,786,817 (GRCm39) F65L possibly damaging Het
Polr1c T C 17: 46,555,089 (GRCm39) K327R possibly damaging Het
Prpf39 A T 12: 65,089,436 (GRCm39) N58I possibly damaging Het
Sh3bp2 T A 5: 34,712,837 (GRCm39) N92K probably damaging Het
Sppl3 TGG TG 5: 115,226,352 (GRCm39) probably null Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Trgc3 T C 13: 19,445,364 (GRCm39) F104S probably benign Het
Vmn2r88 T G 14: 51,651,565 (GRCm39) I293S probably damaging Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Zfp930 A G 8: 69,680,820 (GRCm39) T171A 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
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
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 2014-02-18