Incidental Mutation 'R6154:Nrip1'
| ID |
489484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
044301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76090718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 280
(Y280H)
|
| 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: Y280H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: Y280H
| 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: Y280H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: Y280H
| 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 |
0.5528 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (70/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
G |
10: 106,959,210 (GRCm39) |
I79L |
probably benign |
Het |
| Adam6a |
C |
T |
12: 113,509,292 (GRCm39) |
T555I |
probably benign |
Het |
| Adap1 |
A |
G |
5: 139,293,531 (GRCm39) |
V60A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,387,051 (GRCm39) |
E101G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,593 (GRCm39) |
V459A |
possibly damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Camta2 |
G |
A |
11: 70,569,211 (GRCm39) |
A578V |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,818,609 (GRCm39) |
N316D |
possibly damaging |
Het |
| Chrm3 |
T |
A |
13: 9,928,476 (GRCm39) |
M187L |
possibly damaging |
Het |
| Clcn4 |
T |
C |
7: 7,294,481 (GRCm39) |
T367A |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,376,928 (GRCm39) |
S654P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,387 (GRCm39) |
T2510S |
unknown |
Het |
| Crisp4 |
T |
C |
1: 18,193,012 (GRCm39) |
E192G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,711,370 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
G |
15: 28,204,177 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,746,164 (GRCm39) |
D3983A |
probably benign |
Het |
| Dock5 |
C |
A |
14: 68,097,361 (GRCm39) |
V71L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,427 (GRCm39) |
V610A |
probably damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,428 (GRCm39) |
Y86C |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,903,799 (GRCm39) |
I267V |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,169,178 (GRCm39) |
Y575C |
probably damaging |
Het |
| Gm8094 |
T |
A |
14: 42,934,020 (GRCm39) |
D24V |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,087 (GRCm39) |
I244T |
possibly damaging |
Het |
| Haus6 |
A |
G |
4: 86,501,993 (GRCm39) |
L626P |
possibly damaging |
Het |
| Hexd |
A |
T |
11: 121,112,097 (GRCm39) |
H439L |
probably benign |
Het |
| Ifna12 |
A |
T |
4: 88,521,531 (GRCm39) |
C5* |
probably null |
Het |
| Igf2bp2 |
G |
T |
16: 21,894,843 (GRCm39) |
S300* |
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,362 (GRCm39) |
R71G |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,969 (GRCm39) |
V2333A |
probably benign |
Het |
| Lrrn4cl |
T |
C |
19: 8,829,252 (GRCm39) |
S77P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,500,927 (GRCm39) |
V831A |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,207,674 (GRCm39) |
I40N |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,940,700 (GRCm39) |
Y67N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,534,104 (GRCm39) |
I349F |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,200,368 (GRCm39) |
*81K |
probably null |
Het |
| Obsl1 |
T |
C |
1: 75,476,788 (GRCm39) |
D722G |
probably benign |
Het |
| Or10ag55-ps1 |
T |
G |
2: 87,139,902 (GRCm39) |
S256R |
probably benign |
Het |
| Or2m12 |
A |
T |
16: 19,105,181 (GRCm39) |
I104K |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,734 (GRCm39) |
M1T |
probably null |
Het |
| Or5i1 |
A |
G |
2: 87,613,100 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or6c7 |
C |
T |
10: 129,323,545 (GRCm39) |
T222I |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,966 (GRCm39) |
I296V |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,489,552 (GRCm39) |
L1681M |
probably damaging |
Het |
| Pdlim5 |
T |
C |
3: 141,983,674 (GRCm39) |
R360G |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,488,051 (GRCm39) |
Q81* |
probably null |
Het |
| Pitpnb |
C |
T |
5: 111,486,263 (GRCm39) |
Q56* |
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,603 (GRCm39) |
S215P |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,471,989 (GRCm39) |
Y728H |
probably damaging |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,516,542 (GRCm39) |
H1277R |
possibly damaging |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Sirt6 |
C |
T |
10: 81,462,339 (GRCm39) |
G20D |
probably damaging |
Het |
| Sit1 |
C |
A |
4: 43,482,981 (GRCm39) |
R89S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,546,094 (GRCm39) |
R80G |
probably damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,747 (GRCm39) |
M78K |
probably benign |
Het |
| Stk10 |
T |
A |
11: 32,553,654 (GRCm39) |
|
probably null |
Het |
| Tada2b |
A |
G |
5: 36,634,008 (GRCm39) |
V190A |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,747,780 (GRCm39) |
V41I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,567 (GRCm39) |
V1146E |
probably benign |
Het |
| Trappc9 |
T |
C |
15: 72,929,930 (GRCm39) |
D142G |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,965,178 (GRCm39) |
Y1558H |
probably damaging |
Het |
| Unc5c |
C |
A |
3: 141,383,914 (GRCm39) |
S97R |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,583 (GRCm39) |
I156T |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,821,921 (GRCm39) |
M588K |
possibly damaging |
Het |
| Vps26a |
T |
G |
10: 62,304,119 (GRCm39) |
E117D |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,627 (GRCm39) |
|
probably benign |
Het |
| Zfp534 |
C |
A |
4: 147,759,145 (GRCm39) |
R508I |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,526,642 (GRCm39) |
C187Y |
probably damaging |
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 |
|
|
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'- GTTGGCCACCAGTTTGCTTG -3'
(R):5'- CGTGACTCCAAACCTTATCAGAG -3'
Sequencing Primer
(F):5'- CAGTTTGCTTGCCGGCAG -3'
(R):5'- CAGAGATAGCTTTGTTGAGTCATCCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation