Incidental Mutation 'R9206:Nrip1'
| ID |
698550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip1
|
| Ensembl Gene |
ENSMUSG00000048490 |
| Gene Name |
nuclear receptor interacting protein 1 |
| Synonyms |
8430438I05Rik, 6030458L20Rik, RIP140 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9206 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
76084288-76170715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76089616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 647
(E647G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054178]
[ENSMUST00000121927]
[ENSMUST00000140483]
[ENSMUST00000231585]
|
| AlphaFold |
Q8CBD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054178
AA Change: E647G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: E647G
| 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 |
possibly damaging
Transcript: ENSMUST00000121927
AA Change: E647G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: E647G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
G |
17: 45,820,330 (GRCm39) |
D248G |
probably benign |
Het |
| Abcc5 |
C |
A |
16: 20,208,139 (GRCm39) |
V605F |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,224,406 (GRCm39) |
Y1066H |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,727 (GRCm39) |
S569P |
probably damaging |
Het |
| Apex1 |
T |
G |
14: 51,163,125 (GRCm39) |
D69E |
possibly damaging |
Het |
| Atg13 |
A |
T |
2: 91,512,406 (GRCm39) |
F288I |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,487,447 (GRCm39) |
I121V |
probably benign |
Het |
| Atoh1 |
A |
G |
6: 64,706,713 (GRCm39) |
E136G |
probably benign |
Het |
| Ccr7 |
T |
C |
11: 99,039,895 (GRCm39) |
N9S |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,802,505 (GRCm39) |
W653G |
probably damaging |
Het |
| Cln6 |
T |
A |
9: 62,756,465 (GRCm39) |
M203K |
probably benign |
Het |
| Crnn |
A |
C |
3: 93,054,251 (GRCm39) |
I45L |
possibly damaging |
Het |
| Cse1l |
C |
A |
2: 166,783,185 (GRCm39) |
N743K |
probably damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,583 (GRCm39) |
I77T |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,932 (GRCm39) |
I443V |
probably benign |
Het |
| Dnah7a |
G |
T |
1: 53,540,757 (GRCm39) |
T2539N |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,875,444 (GRCm39) |
D173E |
probably damaging |
Het |
| Fam13c |
A |
G |
10: 70,388,869 (GRCm39) |
E465G |
probably damaging |
Het |
| Fat4 |
G |
C |
3: 39,063,390 (GRCm39) |
G4449R |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 92,015,191 (GRCm39) |
L964S |
probably damaging |
Het |
| Fpr3 |
A |
T |
17: 18,191,131 (GRCm39) |
Q134L |
probably damaging |
Het |
| Gm973 |
A |
T |
1: 59,591,585 (GRCm39) |
Q323L |
possibly damaging |
Het |
| Gna15 |
A |
G |
10: 81,345,224 (GRCm39) |
S214P |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,050,146 (GRCm39) |
M446K |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,947 (GRCm39) |
S545P |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 92,979,202 (GRCm39) |
D928E |
probably damaging |
Het |
| Kif26a |
C |
T |
12: 112,144,480 (GRCm39) |
T1578M |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,227 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
A |
9: 77,558,389 (GRCm39) |
Y368* |
probably null |
Het |
| Krtap27-1 |
A |
G |
16: 88,468,316 (GRCm39) |
V76A |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,126,197 (GRCm39) |
H498Q |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,022,350 (GRCm39) |
C924S |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,197,298 (GRCm39) |
D1180G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,577,925 (GRCm39) |
C20R |
unknown |
Het |
| Mpp7 |
T |
C |
18: 7,403,327 (GRCm39) |
R328G |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,644,041 (GRCm39) |
D260E |
probably benign |
Het |
| Nlrp9a |
C |
A |
7: 26,257,656 (GRCm39) |
L425M |
possibly damaging |
Het |
| Nop9 |
T |
A |
14: 55,987,592 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
C |
A |
6: 56,874,793 (GRCm39) |
M1I |
probably null |
Het |
| Or4f61 |
A |
G |
2: 111,922,410 (GRCm39) |
F212S |
probably benign |
Het |
| Or52a5b |
A |
G |
7: 103,417,478 (GRCm39) |
I42T |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,120 (GRCm39) |
M33T |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,427,310 (GRCm39) |
I172F |
unknown |
Het |
| Plxna4 |
A |
T |
6: 32,494,379 (GRCm39) |
V79D |
probably damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rbm27 |
T |
A |
18: 42,447,163 (GRCm39) |
Y469* |
probably null |
Het |
| Rbm33 |
A |
G |
5: 28,557,584 (GRCm39) |
T266A |
probably damaging |
Het |
| Rcbtb2 |
C |
T |
14: 73,414,500 (GRCm39) |
S437L |
probably damaging |
Het |
| Rcor3 |
A |
T |
1: 191,785,895 (GRCm39) |
*448R |
probably null |
Het |
| Scn10a |
T |
C |
9: 119,445,827 (GRCm39) |
Y1442C |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,548,131 (GRCm39) |
I1108F |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,922,962 (GRCm39) |
I135T |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,920,724 (GRCm39) |
M2380L |
possibly damaging |
Het |
| Tbc1d12 |
T |
C |
19: 38,825,442 (GRCm39) |
S98P |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,082,430 (GRCm39) |
T202S |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,450 (GRCm39) |
V205A |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,975 (GRCm39) |
N309K |
probably damaging |
Het |
| Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
| Tspyl4 |
A |
G |
10: 34,173,568 (GRCm39) |
H20R |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,772,842 (GRCm39) |
I31T |
possibly damaging |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,401 (GRCm39) |
F273Y |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,032 (GRCm39) |
I156F |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,164,882 (GRCm39) |
I737T |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,545,085 (GRCm39) |
D146E |
probably benign |
Het |
| Zfp40 |
A |
G |
17: 23,394,551 (GRCm39) |
F679L |
probably damaging |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,822,154 (GRCm39) |
N303S |
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 |
|
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 |
|
|
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'- GGACAGTCCGTCTTTCCAAGAG -3'
(R):5'- ATCAAGTGGAATTCCCCGCC -3'
Sequencing Primer
(F):5'- GATTTTCTATCTCACAACCAGGAAG -3'
(R):5'- AAGTGGAATTCCCCGCCGTATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation