Incidental Mutation 'R3415:Lims2'
| ID |
266787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lims2
|
| Ensembl Gene |
ENSMUSG00000024395 |
| Gene Name |
LIM and senescent cell antigen like domains 2 |
| Synonyms |
PINCH2 |
| MMRRC Submission |
040633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32055346-32091673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32077208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 58
(Y58F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025254]
[ENSMUST00000064016]
[ENSMUST00000224383]
[ENSMUST00000225404]
|
| AlphaFold |
Q91XD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025254
AA Change: Y63F
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025254
Gene: ENSMUSG00000024395
AA Change: Y63F
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
14 |
67 |
1.15e-14 |
SMART |
|
LIM
|
75 |
126 |
2.74e-12 |
SMART |
|
LIM
|
139 |
189 |
3.87e-12 |
SMART |
|
LIM
|
197 |
248 |
4.31e-19 |
SMART |
|
LIM
|
256 |
308 |
2.67e-15 |
SMART |
|
low complexity region
|
314 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064016
|
| SMART Domains |
Protein: ENSMUSP00000063670
Gene: ENSMUSG00000052229
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
42 |
289 |
4.7e-7 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
1.1e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
70 |
268 |
2.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224383
AA Change: Y58F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225470
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice are viable and fertile with no gross abnormalities. Mice homozygous for a different targeted allele exhibit decreased fractional shortening and increased area affected following myocardial infarct. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
| Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
| Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
|
| Other mutations in Lims2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Lims2
|
APN |
18 |
32,090,370 (GRCm39) |
splice site |
probably null |
|
|
R0180:Lims2
|
UTSW |
18 |
32,089,368 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0268:Lims2
|
UTSW |
18 |
32,077,573 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0344:Lims2
|
UTSW |
18 |
32,077,573 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1920:Lims2
|
UTSW |
18 |
32,088,395 (GRCm39) |
nonsense |
probably null |
|
|
R2138:Lims2
|
UTSW |
18 |
32,088,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3926:Lims2
|
UTSW |
18 |
32,090,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4273:Lims2
|
UTSW |
18 |
32,089,390 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4693:Lims2
|
UTSW |
18 |
32,077,552 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4893:Lims2
|
UTSW |
18 |
32,074,864 (GRCm39) |
splice site |
probably null |
|
|
R5599:Lims2
|
UTSW |
18 |
32,090,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6376:Lims2
|
UTSW |
18 |
32,087,515 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7202:Lims2
|
UTSW |
18 |
32,090,017 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7216:Lims2
|
UTSW |
18 |
32,090,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7848:Lims2
|
UTSW |
18 |
32,091,301 (GRCm39) |
makesense |
probably null |
|
|
R9234:Lims2
|
UTSW |
18 |
32,090,943 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0027:Lims2
|
UTSW |
18 |
32,087,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATCCCCAAAAGCTGTCTCG -3'
(R):5'- CTCTTTTAGGGGCCTGAAGAC -3'
Sequencing Primer
(F):5'- GGACCCTCAGTATCTCTGTGAAC -3'
(R):5'- CTTTTAGGGGCCTGAAGACAATGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation