Incidental Mutation 'R1816:Nrbp1'
| ID |
204409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrbp1
|
| Ensembl Gene |
ENSMUSG00000029148 |
| Gene Name |
nuclear receptor binding protein 1 |
| Synonyms |
Nrbp, B230344L17Rik |
| MMRRC Submission |
039844-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1816 (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
| 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 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
| 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 |
not run
Transcript: ENSMUST00000139602
AA Change: I194N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141973
AA Change: S309T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
noncoding transcript
Transcript: ENSMUST00000202875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201259
|
| 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 |
|
| Meta Mutation Damage Score |
0.9745 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.9%
|
| Validation Efficiency |
99% (72/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,644,222 (GRCm39) |
Y721* |
probably null |
Het |
| 4933405L10Rik |
T |
A |
8: 106,436,491 (GRCm39) |
V220E |
possibly damaging |
Het |
| 4933434E20Rik |
T |
C |
3: 89,960,398 (GRCm39) |
V13A |
possibly damaging |
Het |
| Adam1b |
T |
G |
5: 121,639,788 (GRCm39) |
Q419P |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,784,028 (GRCm39) |
V316A |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,205,547 (GRCm39) |
D294E |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,748,747 (GRCm39) |
S431P |
probably benign |
Het |
| Bfsp1 |
C |
T |
2: 143,683,599 (GRCm39) |
A242T |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,951,405 (GRCm39) |
V279E |
probably damaging |
Het |
| Camkk2 |
A |
G |
5: 122,872,243 (GRCm39) |
L540P |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,805,690 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,356,618 (GRCm39) |
A823S |
probably benign |
Het |
| Cp |
T |
C |
3: 20,022,384 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,593,978 (GRCm39) |
V163A |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,880,139 (GRCm39) |
D288V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,670,901 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
T |
G |
16: 36,628,371 (GRCm39) |
|
probably benign |
Het |
| Efna1 |
T |
C |
3: 89,183,694 (GRCm39) |
N44S |
possibly damaging |
Het |
| Etnppl |
T |
C |
3: 130,428,211 (GRCm39) |
I462T |
probably benign |
Het |
| Fam83d |
G |
T |
2: 158,610,070 (GRCm39) |
A13S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,647,086 (GRCm39) |
|
probably null |
Het |
| Gm14226 |
A |
T |
2: 154,867,549 (GRCm39) |
D502V |
probably damaging |
Het |
| Gm5117 |
T |
A |
8: 32,228,986 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
A |
G |
1: 59,621,558 (GRCm39) |
N566S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,472,752 (GRCm39) |
K16* |
probably null |
Het |
| Hbb-bh2 |
G |
A |
7: 103,489,585 (GRCm39) |
T17I |
possibly damaging |
Het |
| Htt |
C |
T |
5: 34,961,084 (GRCm39) |
A237V |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,671,153 (GRCm39) |
V665A |
probably benign |
Het |
| Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,116 (GRCm39) |
D445G |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,800,286 (GRCm39) |
V1454A |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,037,329 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
T |
C |
11: 73,738,025 (GRCm39) |
K309E |
probably benign |
Het |
| Or2ag13 |
A |
T |
7: 106,472,695 (GRCm39) |
Y252* |
probably null |
Het |
| Or4p18 |
T |
G |
2: 88,232,943 (GRCm39) |
I112L |
possibly damaging |
Het |
| Or5g29 |
G |
T |
2: 85,421,269 (GRCm39) |
K128N |
probably benign |
Het |
| Or5p80 |
T |
C |
7: 108,229,364 (GRCm39) |
L55P |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,011 (GRCm39) |
C152* |
probably null |
Het |
| Pcm1 |
T |
A |
8: 41,762,574 (GRCm39) |
S1412T |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,531,216 (GRCm39) |
L753P |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,908,088 (GRCm39) |
S153P |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,029,108 (GRCm39) |
A1398V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,391,635 (GRCm39) |
I1567T |
possibly damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,585,314 (GRCm39) |
V1571I |
probably benign |
Het |
| Rfx2 |
C |
A |
17: 57,115,305 (GRCm39) |
E5* |
probably null |
Het |
| Sh3tc1 |
C |
A |
5: 35,857,928 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,592,683 (GRCm39) |
Q20* |
probably null |
Het |
| Slc4a1 |
A |
G |
11: 102,242,056 (GRCm39) |
C861R |
probably damaging |
Het |
| Snrnp25 |
G |
A |
11: 32,157,565 (GRCm39) |
V48I |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,186,962 (GRCm39) |
P211Q |
probably damaging |
Het |
| Srgap1 |
G |
A |
10: 121,761,876 (GRCm39) |
Q91* |
probably null |
Het |
| Stab1 |
T |
C |
14: 30,879,422 (GRCm39) |
D686G |
probably benign |
Het |
| Stx8 |
T |
A |
11: 67,902,152 (GRCm39) |
M112K |
possibly damaging |
Het |
| Tfap2b |
A |
T |
1: 19,279,436 (GRCm39) |
K15N |
probably damaging |
Het |
| Thbs2 |
C |
A |
17: 14,890,975 (GRCm39) |
D1052Y |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,890,976 (GRCm39) |
E1051D |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,665,700 (GRCm39) |
D74G |
probably benign |
Het |
| Tlr2 |
T |
C |
3: 83,745,516 (GRCm39) |
Y189C |
probably damaging |
Het |
| Tmem268 |
C |
A |
4: 63,483,947 (GRCm39) |
P55T |
possibly damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,557,016 (GRCm39) |
H745R |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,258,603 (GRCm39) |
V548A |
possibly damaging |
Het |
| Ube2s |
T |
C |
7: 4,814,554 (GRCm39) |
N2S |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,935,697 (GRCm39) |
Y39H |
probably damaging |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,785 (GRCm39) |
D72E |
possibly damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,207,330 (GRCm39) |
G104* |
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,939 (GRCm39) |
I93V |
probably damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
| Zfp958 |
A |
T |
8: 4,679,147 (GRCm39) |
I391F |
possibly damaging |
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 |
|
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 |
2014-06-23 |
Incidental Mutation