Incidental Mutation 'R6586:Nrip2'
| ID |
524397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrip2
|
| Ensembl Gene |
ENSMUSG00000001520 |
| Gene Name |
nuclear receptor interacting protein 2 |
| Synonyms |
NIX1 |
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128374780-128386747 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 128381911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 85
(C85*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001559]
[ENSMUST00000001561]
[ENSMUST00000120405]
[ENSMUST00000123867]
[ENSMUST00000142615]
[ENSMUST00000204223]
[ENSMUST00000204836]
|
| AlphaFold |
Q9JHR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001559
|
| SMART Domains |
Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
382 |
1e-158 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001561
AA Change: V68E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520
AA Change: V68E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
88 |
203 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120405
AA Change: V68E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520
AA Change: V68E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
88 |
202 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123867
AA Change: V85E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520
AA Change: V85E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
105 |
218 |
4.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142615
|
| SMART Domains |
Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Itfg2
|
49 |
358 |
1e-139 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147155
AA Change: C85*
|
| SMART Domains |
Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520
AA Change: C85*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204223
AA Change: V97E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011
AA Change: V97E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204836
AA Change: V8E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520
AA Change: V8E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_protease
|
28 |
141 |
8.9e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203984
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
Het |
|
| Other mutations in Nrip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02217:Nrip2
|
APN |
6 |
128,383,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03179:Nrip2
|
APN |
6 |
128,381,938 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1301:Nrip2
|
UTSW |
6 |
128,384,352 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1735:Nrip2
|
UTSW |
6 |
128,382,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Nrip2
|
UTSW |
6 |
128,385,231 (GRCm39) |
missense |
probably benign |
|
|
R4926:Nrip2
|
UTSW |
6 |
128,385,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5935:Nrip2
|
UTSW |
6 |
128,385,361 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5990:Nrip2
|
UTSW |
6 |
128,376,979 (GRCm39) |
unclassified |
probably benign |
|
|
R6658:Nrip2
|
UTSW |
6 |
128,385,199 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7392:Nrip2
|
UTSW |
6 |
128,381,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7573:Nrip2
|
UTSW |
6 |
128,377,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8030:Nrip2
|
UTSW |
6 |
128,383,484 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8352:Nrip2
|
UTSW |
6 |
128,384,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Nrip2
|
UTSW |
6 |
128,384,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Nrip2
|
UTSW |
6 |
128,385,288 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9477:Nrip2
|
UTSW |
6 |
128,377,145 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATCGCTCATTATTCTAGC -3'
(R):5'- AGCGATAGTCAAAAGTGCACTG -3'
Sequencing Primer
(F):5'- GTATCACACTGGAGCTAGTCATGC -3'
(R):5'- AAAGTGCACTGGGAGTCTTCTTACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation