Incidental Mutation 'R5893:Nrip1'
| ID |
457339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
044094-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5893 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76090841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 239
(A239S)
|
| 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: A239S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: A239S
| 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: A239S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: A239S
| 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 |
0.2541 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
95% (73/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
C |
T |
4: 144,429,766 (GRCm39) |
V408I |
probably benign |
Het |
| Ablim1 |
T |
A |
19: 57,204,285 (GRCm39) |
R35S |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,367,912 (GRCm39) |
I1637F |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,499,709 (GRCm39) |
C402S |
probably damaging |
Het |
| Adra2b |
T |
A |
2: 127,206,402 (GRCm39) |
D306E |
probably benign |
Het |
| Ammecr1l |
C |
T |
18: 31,911,973 (GRCm39) |
T263I |
probably damaging |
Het |
| Antxr1 |
T |
C |
6: 87,114,241 (GRCm39) |
I509V |
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,176,256 (GRCm39) |
E1967G |
probably damaging |
Het |
| Brap |
T |
A |
5: 121,817,405 (GRCm39) |
Y337* |
probably null |
Het |
| Brca2 |
T |
C |
5: 150,492,603 (GRCm39) |
V3206A |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,313,069 (GRCm39) |
F1486I |
probably damaging |
Het |
| Cbx4 |
A |
G |
11: 118,973,016 (GRCm39) |
Y120H |
probably damaging |
Het |
| Ccar2 |
T |
A |
14: 70,388,800 (GRCm39) |
Q137L |
probably benign |
Het |
| Ceacam12 |
A |
G |
7: 17,803,299 (GRCm39) |
D235G |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,788,215 (GRCm39) |
V2679A |
probably benign |
Het |
| Champ1 |
C |
T |
8: 13,928,777 (GRCm39) |
P312S |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,616,828 (GRCm39) |
L264S |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,817,863 (GRCm39) |
S78G |
probably benign |
Het |
| Colec10 |
T |
A |
15: 54,274,185 (GRCm39) |
F4L |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,008,353 (GRCm39) |
G165D |
probably damaging |
Het |
| Cyp2c29 |
G |
C |
19: 39,318,833 (GRCm39) |
A438P |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,555,439 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,294,704 (GRCm39) |
V2457A |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,496,944 (GRCm39) |
M3104T |
possibly damaging |
Het |
| Dock8 |
C |
T |
19: 25,099,811 (GRCm39) |
H645Y |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,768,459 (GRCm39) |
E948G |
probably benign |
Het |
| Eps8l2 |
C |
T |
7: 140,937,537 (GRCm39) |
R384C |
probably damaging |
Het |
| Fam174a |
A |
T |
1: 95,252,884 (GRCm39) |
N162I |
probably damaging |
Het |
| Fbp2 |
T |
A |
13: 62,984,916 (GRCm39) |
N335I |
probably benign |
Het |
| Foxred2 |
C |
A |
15: 77,831,344 (GRCm39) |
G490C |
probably damaging |
Het |
| Fyttd1 |
T |
G |
16: 32,719,283 (GRCm39) |
D200E |
probably damaging |
Het |
| Gdf15 |
A |
T |
8: 71,082,473 (GRCm39) |
V211E |
possibly damaging |
Het |
| Gm6214 |
A |
G |
3: 140,545,107 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr2 |
A |
G |
11: 46,347,143 (GRCm39) |
Y40C |
probably damaging |
Het |
| Htra1 |
T |
G |
7: 130,563,321 (GRCm39) |
V184G |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,217,308 (GRCm39) |
I1399F |
probably benign |
Het |
| Igtp |
T |
C |
11: 58,097,474 (GRCm39) |
L215P |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,102,745 (GRCm39) |
E812G |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,668,621 (GRCm39) |
|
probably benign |
Het |
| Lgalsl2 |
A |
T |
7: 5,362,623 (GRCm39) |
T85S |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,491,599 (GRCm39) |
A223S |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,540 (GRCm39) |
V173E |
probably damaging |
Het |
| Nat10 |
A |
C |
2: 103,552,184 (GRCm39) |
|
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,532,291 (GRCm39) |
V229E |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,891,323 (GRCm39) |
T432M |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,832 (GRCm39) |
Y464C |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,490,042 (GRCm39) |
S221G |
probably benign |
Het |
| Orc4 |
G |
T |
2: 48,795,559 (GRCm39) |
S389* |
probably null |
Het |
| P4hb |
A |
G |
11: 120,462,476 (GRCm39) |
S77P |
probably damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,508,623 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
C |
10: 13,003,938 (GRCm39) |
|
probably benign |
Het |
| Poglut1 |
C |
T |
16: 38,349,957 (GRCm39) |
R272Q |
probably damaging |
Het |
| Pramel26 |
T |
A |
4: 143,537,038 (GRCm39) |
Y431F |
probably damaging |
Het |
| Rdh5 |
T |
C |
10: 128,750,090 (GRCm39) |
|
probably null |
Het |
| Rogdi |
A |
T |
16: 4,831,258 (GRCm39) |
L3* |
probably null |
Het |
| Skap1 |
T |
C |
11: 96,472,224 (GRCm39) |
*166Q |
probably null |
Het |
| Slc38a4 |
A |
G |
15: 96,897,432 (GRCm39) |
I461T |
probably benign |
Het |
| Snx31 |
A |
C |
15: 36,523,601 (GRCm39) |
I360M |
probably damaging |
Het |
| Spata22 |
A |
T |
11: 73,227,073 (GRCm39) |
K96* |
probably null |
Het |
| Strn3 |
A |
T |
12: 51,690,006 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
C |
1: 84,736,884 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,266,709 (GRCm39) |
|
probably null |
Het |
| Upk3a |
A |
C |
15: 84,903,538 (GRCm39) |
D79A |
probably damaging |
Het |
| Uts2r |
A |
T |
11: 121,052,105 (GRCm39) |
Y323F |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 63,993,974 (GRCm39) |
N107Y |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,810,121 (GRCm39) |
|
probably null |
Het |
| Wnt7b |
A |
G |
15: 85,465,575 (GRCm39) |
|
probably benign |
Het |
| Zfp410 |
T |
A |
12: 84,384,385 (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 |
|
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 |
|
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'- TTGCAATCTGGCCATGGCTG -3'
(R):5'- AAGGATTTAAGGTGCTATGGCG -3'
Sequencing Primer
(F):5'- GGCCATGGCTGCAAGTCTTTC -3'
(R):5'- GTGGCCTCAAGTCACTTAAAAACTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation