Incidental Mutation 'R4290:Nrip1'
| ID |
323032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
041655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76088876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 894
(S894P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
| AlphaFold |
Q8CBD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054178
AA Change: S894P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: S894P
| 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 benign
Transcript: ENSMUST00000121927
AA Change: S894P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: S894P
| 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
|
| Meta Mutation Damage Score |
0.0751 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (73/73) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,539,738 (GRCm39) |
N1545S |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,503,809 (GRCm39) |
S225P |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,858,650 (GRCm39) |
S728P |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,481 (GRCm39) |
K444R |
probably benign |
Het |
| Cox10 |
A |
T |
11: 63,855,081 (GRCm39) |
V400E |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,818,178 (GRCm39) |
V443A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| En1 |
C |
A |
1: 120,531,486 (GRCm39) |
A242E |
unknown |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,487,237 (GRCm39) |
Y40F |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,871,023 (GRCm39) |
I191T |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,862,750 (GRCm39) |
T58S |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,002,709 (GRCm39) |
R594C |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,260,684 (GRCm39) |
|
probably null |
Het |
| Kcna1 |
T |
C |
6: 126,618,838 (GRCm39) |
D494G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,281,261 (GRCm39) |
|
probably null |
Het |
| Kmt5b |
T |
C |
19: 3,852,193 (GRCm39) |
Y125H |
possibly damaging |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Man1c1 |
T |
A |
4: 134,291,096 (GRCm39) |
D600V |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mettl5 |
T |
C |
2: 69,711,176 (GRCm39) |
N114S |
probably benign |
Het |
| Mindy2 |
T |
A |
9: 70,538,376 (GRCm39) |
R320W |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,633 (GRCm39) |
H1736L |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2aj4 |
A |
T |
16: 19,384,994 (GRCm39) |
M213K |
possibly damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,612 (GRCm39) |
T3A |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,701,442 (GRCm39) |
N8S |
probably damaging |
Het |
| Or6b6 |
A |
C |
7: 106,570,918 (GRCm39) |
L211R |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,391,231 (GRCm39) |
|
probably null |
Het |
| Rps15a-ps1 |
A |
G |
10: 106,028,496 (GRCm39) |
|
noncoding transcript |
Het |
| Rps27a |
A |
G |
11: 29,495,933 (GRCm39) |
Y140H |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,176,753 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,870,077 (GRCm39) |
D332G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,873,605 (GRCm39) |
V83A |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,419,807 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- GATCTCGCACACAGTTCTCG -3'
(R):5'- AAAGAACGGGCTGTTGAGTC -3'
Sequencing Primer
(F):5'- TGCCCAGCAGGGTATTTA -3'
(R):5'- TCGCTTGCTGAGACAGAATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation