Incidental Mutation 'R0368:Nrip1'
| ID |
30343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
038574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0368 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76090904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 218
(S218P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
| AlphaFold |
Q8CBD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054178
AA Change: S218P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: S218P
| 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: S218P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: S218P
| 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 |
noncoding transcript
Transcript: ENSMUST00000231304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231585
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 8,985,714 (GRCm39) |
K2333* |
probably null |
Het |
| Aox4 |
C |
T |
1: 58,252,238 (GRCm39) |
L38F |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,845,519 (GRCm39) |
E111G |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,097,661 (GRCm39) |
I789N |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,937,796 (GRCm39) |
S286P |
possibly damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,675,583 (GRCm39) |
K457M |
probably damaging |
Het |
| Cimip2a |
T |
A |
2: 25,110,685 (GRCm39) |
D164E |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Cyb5r3 |
G |
A |
15: 83,042,993 (GRCm39) |
A233V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,382,574 (GRCm39) |
L278* |
probably null |
Het |
| Dnmt1 |
T |
C |
9: 20,853,053 (GRCm39) |
E56G |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,775,973 (GRCm39) |
|
probably null |
Het |
| Fhip2a |
A |
G |
19: 57,357,010 (GRCm39) |
T34A |
possibly damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,260,959 (GRCm39) |
D289G |
probably damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,176 (GRCm39) |
L273P |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,486 (GRCm39) |
E125G |
probably null |
Het |
| Il25 |
A |
G |
14: 55,172,631 (GRCm39) |
|
probably null |
Het |
| Itfg1 |
A |
T |
8: 86,491,036 (GRCm39) |
W298R |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,387,967 (GRCm39) |
K547* |
probably null |
Het |
| Lama5 |
G |
A |
2: 179,823,023 (GRCm39) |
R2748* |
probably null |
Het |
| Lrp4 |
C |
T |
2: 91,308,079 (GRCm39) |
T508I |
probably damaging |
Het |
| Map3k10 |
C |
T |
7: 27,362,785 (GRCm39) |
V434I |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,979,970 (GRCm39) |
M1265V |
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,594,462 (GRCm39) |
Y113F |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Olig1 |
C |
T |
16: 91,067,540 (GRCm39) |
S259F |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,132 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or4k41 |
T |
C |
2: 111,280,133 (GRCm39) |
I216T |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,924,129 (GRCm39) |
V499A |
probably damaging |
Het |
| Pafah2 |
T |
C |
4: 134,149,802 (GRCm39) |
V371A |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,803,421 (GRCm39) |
M712L |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,814,590 (GRCm39) |
S244G |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,959 (GRCm39) |
T652A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,134,795 (GRCm39) |
V108E |
probably damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,448,470 (GRCm39) |
V82E |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
A |
T |
11: 78,295,626 (GRCm39) |
L80* |
probably null |
Het |
| Slc1a5 |
C |
T |
7: 16,516,103 (GRCm39) |
P93L |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,877,389 (GRCm39) |
V172A |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,958 (GRCm39) |
L195P |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,364,078 (GRCm39) |
S320N |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,883,927 (GRCm39) |
V589A |
probably benign |
Het |
| Stim2 |
G |
A |
5: 54,267,482 (GRCm39) |
|
probably null |
Het |
| V1ra8 |
A |
G |
6: 90,179,944 (GRCm39) |
D49G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,869 (GRCm39) |
V27D |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,089 (GRCm39) |
K196* |
probably null |
Het |
| Wdr77 |
T |
C |
3: 105,869,382 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8723:Nrip1
|
UTSW |
16 |
76,089,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- ACAACACCCATTGGACTCTGAAAGG -3'
(R):5'- CTGTCACAGCAGATTAGACAGAGCC -3'
Sequencing Primer
(F):5'- CATGTTCCCGAGAGTACTGCTG -3'
(R):5'- TTAGACAGAGCCTCAAGGAGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation