Incidental Mutation 'R8723:Nrip1'
ID |
662245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrip1
|
Ensembl Gene |
ENSMUSG00000048490 |
Gene Name |
nuclear receptor interacting protein 1 |
Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
MMRRC Submission |
068615-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8723 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76089553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 668
(D668G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051726
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
AlphaFold |
Q8CBD1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054178
AA Change: D668G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051726 Gene: ENSMUSG00000048490 AA Change: D668G
Domain | Start | End | E-Value | Type |
low complexity region
|
182 |
195 |
N/A |
INTRINSIC |
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
PDB:2GPP|D
|
368 |
392 |
2e-7 |
PDB |
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
low complexity region
|
719 |
731 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121927
AA Change: D668G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112959 Gene: ENSMUSG00000048490 AA Change: D668G
Domain | Start | End | E-Value | Type |
Pfam:NRIP1_repr_1
|
27 |
331 |
5.4e-141 |
PFAM |
PDB:2GPP|D
|
368 |
392 |
2e-7 |
PDB |
Pfam:NRIP1_repr_2
|
412 |
739 |
7.5e-122 |
PFAM |
Pfam:NRIP1_repr_3
|
754 |
841 |
8.4e-45 |
PFAM |
Pfam:NRIP1_repr_4
|
849 |
1161 |
1.7e-157 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231585
|
Meta Mutation Damage Score |
0.2799 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (55/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygosity for targeted disruption of this gene results in female infertility due to ovulation failure. Heterozygous females are partially affected. Male and female mice are smaller than wild-type littermates. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,360,897 (GRCm39) |
H465Q |
probably benign |
Het |
Adam29 |
T |
C |
8: 56,324,513 (GRCm39) |
H647R |
probably damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
Adgrg7 |
T |
G |
16: 56,582,282 (GRCm39) |
R285S |
probably benign |
Het |
Alkbh1 |
A |
G |
12: 87,485,278 (GRCm39) |
V115A |
probably benign |
Het |
Ankrd50 |
A |
C |
3: 38,511,453 (GRCm39) |
F305V |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,686 (GRCm39) |
S414P |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,986,206 (GRCm39) |
I282V |
probably benign |
Het |
Aoah |
T |
G |
13: 21,184,180 (GRCm39) |
Y415D |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,548,510 (GRCm39) |
V1188A |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,462,907 (GRCm39) |
I1651T |
probably benign |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Ctnnd1 |
G |
A |
2: 84,450,384 (GRCm39) |
P279S |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,891,685 (GRCm39) |
E3298V |
probably damaging |
Het |
Ear14 |
C |
T |
14: 51,441,513 (GRCm39) |
T123I |
possibly damaging |
Het |
Elf3 |
A |
G |
1: 135,185,385 (GRCm39) |
L43P |
possibly damaging |
Het |
Exoc3l4 |
T |
A |
12: 111,397,092 (GRCm39) |
|
probably benign |
Het |
Figla |
A |
G |
6: 85,997,724 (GRCm39) |
T151A |
probably benign |
Het |
Fsd1l |
A |
G |
4: 53,647,001 (GRCm39) |
E56G |
unknown |
Het |
Gm49359 |
A |
T |
13: 62,602,410 (GRCm39) |
H263Q |
probably damaging |
Het |
Gprc6a |
A |
T |
10: 51,491,518 (GRCm39) |
C744S |
probably damaging |
Het |
Grhl1 |
G |
A |
12: 24,662,244 (GRCm39) |
|
probably benign |
Het |
Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
Itih3 |
T |
A |
14: 30,630,761 (GRCm39) |
Q850L |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,575,591 (GRCm39) |
V285A |
probably damaging |
Het |
Klc4 |
T |
G |
17: 46,951,626 (GRCm39) |
E165A |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,316,648 (GRCm39) |
Y2111C |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,887,342 (GRCm39) |
E3057G |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,348,910 (GRCm39) |
Q4006* |
probably null |
Het |
Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
Ms4a20 |
A |
G |
19: 11,083,055 (GRCm39) |
Y122H |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,272,407 (GRCm39) |
F1466S |
probably damaging |
Het |
Or5w17 |
T |
C |
2: 87,583,501 (GRCm39) |
T279A |
possibly damaging |
Het |
Or8k3 |
A |
T |
2: 86,058,786 (GRCm39) |
H176Q |
probably damaging |
Het |
P2rx1 |
C |
A |
11: 72,899,756 (GRCm39) |
N120K |
probably benign |
Het |
Pif1 |
T |
A |
9: 65,501,673 (GRCm39) |
M569K |
probably damaging |
Het |
Prkd2 |
G |
A |
7: 16,591,702 (GRCm39) |
V578I |
possibly damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,106,101 (GRCm39) |
Y284C |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,410,757 (GRCm39) |
T164A |
possibly damaging |
Het |
Rxfp1 |
T |
C |
3: 79,557,802 (GRCm39) |
T559A |
probably benign |
Het |
Sag |
G |
A |
1: 87,751,175 (GRCm39) |
|
probably null |
Het |
Smoc1 |
G |
A |
12: 81,182,586 (GRCm39) |
V138I |
possibly damaging |
Het |
Spag5 |
T |
A |
11: 78,212,215 (GRCm39) |
I1081N |
probably damaging |
Het |
Stk25 |
A |
G |
1: 93,553,666 (GRCm39) |
I203T |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,941,863 (GRCm39) |
V611E |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,856,911 (GRCm39) |
D54V |
probably damaging |
Het |
Tacr2 |
A |
G |
10: 62,094,107 (GRCm39) |
D188G |
probably damaging |
Het |
Tmem237 |
A |
T |
1: 59,145,731 (GRCm39) |
Y358N |
probably damaging |
Het |
Trim27 |
A |
C |
13: 21,374,807 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,698,149 (GRCm39) |
E139G |
probably benign |
Het |
Ttc39a |
T |
A |
4: 109,300,700 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,671,899 (GRCm39) |
I781N |
probably damaging |
Het |
Uqcc1 |
C |
T |
2: 155,729,100 (GRCm39) |
W21* |
probably null |
Het |
Vmn2r117 |
A |
T |
17: 23,696,343 (GRCm39) |
W355R |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,693,910 (GRCm39) |
V420A |
probably benign |
Het |
Zdhhc21 |
A |
T |
4: 82,762,439 (GRCm39) |
I52K |
probably benign |
Het |
|
Other mutations in Nrip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00496:Nrip1
|
APN |
16 |
76,090,591 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL00732:Nrip1
|
APN |
16 |
76,089,949 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02024:Nrip1
|
APN |
16 |
76,088,563 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02172:Nrip1
|
APN |
16 |
76,088,380 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02432:Nrip1
|
APN |
16 |
76,088,668 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03025:Nrip1
|
APN |
16 |
76,091,353 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03410:Nrip1
|
APN |
16 |
76,089,379 (GRCm39) |
missense |
probably benign |
|
PIT4802001:Nrip1
|
UTSW |
16 |
76,090,157 (GRCm39) |
missense |
probably damaging |
0.97 |
R0064:Nrip1
|
UTSW |
16 |
76,091,558 (GRCm39) |
utr 5 prime |
probably benign |
|
R0304:Nrip1
|
UTSW |
16 |
76,089,595 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0320:Nrip1
|
UTSW |
16 |
76,089,251 (GRCm39) |
missense |
probably benign |
0.00 |
R0368:Nrip1
|
UTSW |
16 |
76,090,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R1730:Nrip1
|
UTSW |
16 |
76,089,778 (GRCm39) |
missense |
probably benign |
0.42 |
R1783:Nrip1
|
UTSW |
16 |
76,089,778 (GRCm39) |
missense |
probably benign |
0.42 |
R1850:Nrip1
|
UTSW |
16 |
76,090,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Nrip1
|
UTSW |
16 |
76,088,927 (GRCm39) |
missense |
probably benign |
|
R2252:Nrip1
|
UTSW |
16 |
76,088,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:Nrip1
|
UTSW |
16 |
76,091,323 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4290:Nrip1
|
UTSW |
16 |
76,088,876 (GRCm39) |
missense |
probably benign |
0.00 |
R4426:Nrip1
|
UTSW |
16 |
76,088,293 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4598:Nrip1
|
UTSW |
16 |
76,089,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R4607:Nrip1
|
UTSW |
16 |
76,089,920 (GRCm39) |
missense |
probably benign |
0.00 |
R4608:Nrip1
|
UTSW |
16 |
76,089,920 (GRCm39) |
missense |
probably benign |
0.00 |
R5893:Nrip1
|
UTSW |
16 |
76,090,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R5939:Nrip1
|
UTSW |
16 |
76,089,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R5966:Nrip1
|
UTSW |
16 |
76,090,471 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6093:Nrip1
|
UTSW |
16 |
76,091,652 (GRCm39) |
start gained |
probably benign |
|
R6154:Nrip1
|
UTSW |
16 |
76,090,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R6639:Nrip1
|
UTSW |
16 |
76,090,883 (GRCm39) |
nonsense |
probably null |
|
R6910:Nrip1
|
UTSW |
16 |
76,091,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6921:Nrip1
|
UTSW |
16 |
76,089,476 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7314:Nrip1
|
UTSW |
16 |
76,088,078 (GRCm39) |
missense |
probably benign |
0.00 |
R7346:Nrip1
|
UTSW |
16 |
76,090,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7386:Nrip1
|
UTSW |
16 |
76,090,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Nrip1
|
UTSW |
16 |
76,088,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R7506:Nrip1
|
UTSW |
16 |
76,091,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7517:Nrip1
|
UTSW |
16 |
76,088,072 (GRCm39) |
makesense |
probably null |
|
R7657:Nrip1
|
UTSW |
16 |
76,091,587 (GRCm39) |
splice site |
probably null |
|
R7878:Nrip1
|
UTSW |
16 |
76,091,554 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8068:Nrip1
|
UTSW |
16 |
76,089,841 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8254:Nrip1
|
UTSW |
16 |
76,088,287 (GRCm39) |
missense |
probably benign |
0.02 |
R8261:Nrip1
|
UTSW |
16 |
76,088,949 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8294:Nrip1
|
UTSW |
16 |
76,089,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8739:Nrip1
|
UTSW |
16 |
76,088,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8956:Nrip1
|
UTSW |
16 |
76,089,193 (GRCm39) |
missense |
probably benign |
0.07 |
R8988:Nrip1
|
UTSW |
16 |
76,088,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9024:Nrip1
|
UTSW |
16 |
76,088,388 (GRCm39) |
nonsense |
probably null |
|
R9206:Nrip1
|
UTSW |
16 |
76,089,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9208:Nrip1
|
UTSW |
16 |
76,089,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9393:Nrip1
|
UTSW |
16 |
76,091,353 (GRCm39) |
missense |
probably benign |
0.06 |
R9476:Nrip1
|
UTSW |
16 |
76,089,820 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Nrip1
|
UTSW |
16 |
76,090,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGCAGCCCTCTCCGAATG -3'
(R):5'- CTGATGGACCTCACGAAAGG -3'
Sequencing Primer
(F):5'- TCTCCGAATGCTCCTGAGG -3'
(R):5'- GGCAAAGAGTCCCAAGCCG -3'
|
Posted On |
2021-03-08 |