Incidental Mutation 'R2336:Lrrfip2'
ID |
246554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrfip2
|
Ensembl Gene |
ENSMUSG00000032497 |
Gene Name |
leucine rich repeat (in FLII) interacting protein 2 |
Synonyms |
5133400F20Rik |
MMRRC Submission |
040323-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R2336 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111051283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 325
(D325G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000098340]
[ENSMUST00000196981]
[ENSMUST00000197241]
[ENSMUST00000197256]
[ENSMUST00000216430]
[ENSMUST00000217117]
[ENSMUST00000217341]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035078
AA Change: D337G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035078 Gene: ENSMUSG00000032497 AA Change: D337G
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098340
AA Change: D322G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095944 Gene: ENSMUSG00000032497 AA Change: D322G
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196906
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196981
AA Change: D346G
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142851 Gene: ENSMUSG00000032497 AA Change: D346G
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
350 |
4.5e-113 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197241
AA Change: D337G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142816 Gene: ENSMUSG00000032497 AA Change: D337G
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
341 |
1.3e-119 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197256
AA Change: D359G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143322 Gene: ENSMUSG00000032497 AA Change: D359G
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
363 |
2.9e-115 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197540
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216430
AA Change: D325G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217117
AA Change: D295G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217341
|
Meta Mutation Damage Score |
0.4846 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
T |
A |
1: 181,055,206 (GRCm39) |
|
noncoding transcript |
Het |
Arhgap21 |
G |
A |
2: 20,884,862 (GRCm39) |
R772C |
probably damaging |
Het |
Arid2 |
A |
G |
15: 96,260,430 (GRCm39) |
E393G |
probably damaging |
Het |
Atrn |
C |
T |
2: 130,799,874 (GRCm39) |
T417I |
probably damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,378 (GRCm39) |
K173R |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,189,510 (GRCm39) |
N1497K |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,481,300 (GRCm39) |
V349A |
probably benign |
Het |
Chrnd |
T |
C |
1: 87,122,615 (GRCm39) |
F132S |
probably damaging |
Het |
Ddx42 |
A |
G |
11: 106,121,976 (GRCm39) |
M164V |
possibly damaging |
Het |
Dtwd2 |
A |
G |
18: 49,833,320 (GRCm39) |
|
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,143,571 (GRCm39) |
|
probably benign |
Het |
Fut8 |
A |
G |
12: 77,459,730 (GRCm39) |
|
probably benign |
Het |
Gabrr3 |
C |
T |
16: 59,250,313 (GRCm39) |
T104M |
probably damaging |
Het |
Gcat |
G |
A |
15: 78,915,180 (GRCm39) |
R16H |
probably benign |
Het |
Gnb2 |
A |
T |
5: 137,527,460 (GRCm39) |
W125R |
probably damaging |
Het |
Grik4 |
C |
T |
9: 42,477,651 (GRCm39) |
D512N |
probably damaging |
Het |
Hnf4g |
T |
C |
3: 3,706,284 (GRCm39) |
F60L |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,484,546 (GRCm39) |
I359T |
probably damaging |
Het |
Mttp |
A |
T |
3: 137,821,856 (GRCm39) |
I222K |
possibly damaging |
Het |
Myom1 |
A |
T |
17: 71,330,189 (GRCm39) |
H107L |
possibly damaging |
Het |
Obi1 |
G |
A |
14: 104,716,318 (GRCm39) |
P685L |
probably damaging |
Het |
Or10al4 |
A |
T |
17: 38,037,689 (GRCm39) |
Y258F |
probably benign |
Het |
Or2r11 |
A |
G |
6: 42,437,663 (GRCm39) |
C97R |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,006,121 (GRCm39) |
|
probably null |
Het |
Prokr2 |
A |
T |
2: 132,223,359 (GRCm39) |
M61K |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,137,965 (GRCm39) |
C502R |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,698,192 (GRCm39) |
W172R |
probably damaging |
Het |
Rdh16f1 |
A |
G |
10: 127,624,624 (GRCm39) |
K154R |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,305,430 (GRCm39) |
E554K |
probably benign |
Het |
St3gal6 |
A |
T |
16: 58,314,067 (GRCm39) |
I22K |
probably damaging |
Het |
Tut7 |
G |
T |
13: 59,946,868 (GRCm39) |
P585Q |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,782,258 (GRCm39) |
R387* |
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,488,470 (GRCm39) |
N643S |
probably benign |
Het |
Zdbf2 |
G |
T |
1: 63,342,623 (GRCm39) |
R334L |
probably benign |
Het |
Zfp868 |
G |
T |
8: 70,066,558 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Lrrfip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01141:Lrrfip2
|
APN |
9 |
111,048,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01408:Lrrfip2
|
APN |
9 |
111,043,284 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01462:Lrrfip2
|
APN |
9 |
111,034,917 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01845:Lrrfip2
|
APN |
9 |
111,028,728 (GRCm39) |
splice site |
probably benign |
|
IGL02218:Lrrfip2
|
APN |
9 |
111,048,793 (GRCm39) |
missense |
probably benign |
|
IGL02986:Lrrfip2
|
APN |
9 |
110,990,461 (GRCm39) |
splice site |
probably null |
|
R0091:Lrrfip2
|
UTSW |
9 |
111,043,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R1101:Lrrfip2
|
UTSW |
9 |
111,019,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R1722:Lrrfip2
|
UTSW |
9 |
111,028,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R2334:Lrrfip2
|
UTSW |
9 |
111,048,793 (GRCm39) |
missense |
probably benign |
|
R3103:Lrrfip2
|
UTSW |
9 |
111,051,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Lrrfip2
|
UTSW |
9 |
111,028,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R5010:Lrrfip2
|
UTSW |
9 |
111,053,040 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5072:Lrrfip2
|
UTSW |
9 |
111,028,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R6026:Lrrfip2
|
UTSW |
9 |
111,043,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R6307:Lrrfip2
|
UTSW |
9 |
111,053,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Lrrfip2
|
UTSW |
9 |
111,045,187 (GRCm39) |
intron |
probably benign |
|
R7099:Lrrfip2
|
UTSW |
9 |
111,002,176 (GRCm39) |
missense |
probably benign |
0.04 |
R7312:Lrrfip2
|
UTSW |
9 |
111,006,525 (GRCm39) |
splice site |
probably null |
|
R7429:Lrrfip2
|
UTSW |
9 |
111,014,194 (GRCm39) |
splice site |
probably null |
|
R7847:Lrrfip2
|
UTSW |
9 |
111,042,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Lrrfip2
|
UTSW |
9 |
111,022,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7912:Lrrfip2
|
UTSW |
9 |
111,034,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R8872:Lrrfip2
|
UTSW |
9 |
111,034,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9103:Lrrfip2
|
UTSW |
9 |
111,034,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R9325:Lrrfip2
|
UTSW |
9 |
110,990,429 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1176:Lrrfip2
|
UTSW |
9 |
110,990,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGAATACTGCAGAGCACAAG -3'
(R):5'- GATTACCCCACCAGGTGTTCTC -3'
Sequencing Primer
(F):5'- GCACAAGTATAGGAGCTTCTTGTAG -3'
(R):5'- TGGGTTTTTCAACTATAACACAGAGC -3'
|
Posted On |
2014-10-30 |