Incidental Mutation 'R3103:Lrrfip2'
ID |
262910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrfip2
|
Ensembl Gene |
ENSMUSG00000032497 |
Gene Name |
leucine rich repeat (in FLII) interacting protein 2 |
Synonyms |
5133400F20Rik |
MMRRC Submission |
040577-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R3103 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110946660-111054736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 111051278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 293
(E293D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151145
(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: E335D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035078 Gene: ENSMUSG00000032497 AA Change: E335D
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098340
AA Change: E320D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095944 Gene: ENSMUSG00000032497 AA Change: E320D
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196906
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196981
AA Change: E344D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142851 Gene: ENSMUSG00000032497 AA Change: E344D
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
350 |
4.5e-113 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197241
AA Change: E335D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142816 Gene: ENSMUSG00000032497 AA Change: E335D
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
341 |
1.3e-119 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197256
AA Change: E357D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143322 Gene: ENSMUSG00000032497 AA Change: E357D
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: E323D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217117
AA Change: E293D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217341
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
A |
G |
7: 28,310,409 (GRCm39) |
|
probably null |
Het |
Adap2 |
G |
T |
11: 80,047,859 (GRCm39) |
C105F |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,223,201 (GRCm39) |
|
probably null |
Het |
Bpifc |
A |
G |
10: 85,829,286 (GRCm39) |
S94P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,044,459 (GRCm39) |
D347G |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,219,018 (GRCm39) |
V613A |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,093,667 (GRCm39) |
H6R |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,714,338 (GRCm39) |
T1956A |
probably benign |
Het |
Cep128 |
T |
A |
12: 90,986,118 (GRCm39) |
D1006V |
probably damaging |
Het |
Cog3 |
T |
C |
14: 75,984,641 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,967,405 (GRCm39) |
V3153M |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 77,630,127 (GRCm39) |
E122G |
possibly damaging |
Het |
Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
Ddx27 |
T |
A |
2: 166,868,166 (GRCm39) |
V333E |
probably damaging |
Het |
Dmpk |
A |
G |
7: 18,821,579 (GRCm39) |
Y279C |
probably damaging |
Het |
Dpagt1 |
A |
G |
9: 44,239,292 (GRCm39) |
I111V |
probably benign |
Het |
Dvl2 |
C |
A |
11: 69,899,695 (GRCm39) |
P546T |
possibly damaging |
Het |
Fat4 |
G |
T |
3: 38,946,089 (GRCm39) |
A1661S |
probably benign |
Het |
Gcm1 |
A |
G |
9: 77,971,734 (GRCm39) |
N225S |
probably damaging |
Het |
Gcnt2 |
A |
T |
13: 41,072,082 (GRCm39) |
M242L |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,715,211 (GRCm39) |
R226G |
probably damaging |
Het |
Gpr63 |
G |
A |
4: 25,007,353 (GRCm39) |
V26I |
probably benign |
Het |
Grik2 |
A |
G |
10: 49,116,868 (GRCm39) |
L631P |
probably damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,484 (GRCm39) |
D135G |
probably benign |
Het |
Il31ra |
C |
A |
13: 112,666,885 (GRCm39) |
V398F |
probably damaging |
Het |
Ipp |
G |
T |
4: 116,381,446 (GRCm39) |
R315L |
possibly damaging |
Het |
Kcmf1 |
A |
G |
6: 72,838,830 (GRCm39) |
L32P |
probably damaging |
Het |
Klf17 |
T |
A |
4: 117,617,805 (GRCm39) |
Q184L |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,262,328 (GRCm39) |
V4442I |
probably benign |
Het |
Oit3 |
A |
G |
10: 59,274,713 (GRCm39) |
I29T |
probably damaging |
Het |
Or1a1 |
G |
A |
11: 74,086,901 (GRCm39) |
D191N |
probably benign |
Het |
Or1j21 |
T |
C |
2: 36,683,574 (GRCm39) |
C109R |
possibly damaging |
Het |
Or51h1 |
T |
C |
7: 102,308,688 (GRCm39) |
V220A |
probably benign |
Het |
Plb1 |
T |
A |
5: 32,485,373 (GRCm39) |
M842K |
possibly damaging |
Het |
Ppt1 |
T |
C |
4: 122,730,100 (GRCm39) |
C18R |
probably benign |
Het |
Pstpip2 |
T |
C |
18: 77,959,477 (GRCm39) |
Y191H |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,774,373 (GRCm39) |
V2361I |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,305,338 (GRCm39) |
N238S |
probably benign |
Het |
Skor2 |
A |
T |
18: 76,946,973 (GRCm39) |
K232* |
probably null |
Het |
Slc13a5 |
A |
T |
11: 72,148,214 (GRCm39) |
W231R |
probably damaging |
Het |
Svs5 |
A |
T |
2: 164,175,313 (GRCm39) |
E55V |
probably benign |
Het |
Tfcp2 |
A |
T |
15: 100,423,481 (GRCm39) |
W142R |
probably damaging |
Het |
Trpc2 |
A |
T |
7: 101,744,441 (GRCm39) |
I738F |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,067 (GRCm39) |
S227T |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,386 (GRCm39) |
T1540A |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,962,561 (GRCm39) |
T74A |
probably benign |
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 |
|
R2336:Lrrfip2
|
UTSW |
9 |
111,051,283 (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'- GCAGAGCACAAGTATAGGAGCTTC -3'
(R):5'- ATGCAAAGCTGGATTACCCC -3'
Sequencing Primer
(F):5'- GGAGCTTCTTGTAGTACATAGCATCC -3'
(R):5'- GGATTACCCCACCAGGTGTTC -3'
|
Posted On |
2015-02-05 |