Incidental Mutation 'R5599:Lims2'
| ID |
438966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lims2
|
| Ensembl Gene |
ENSMUSG00000024395 |
| Gene Name |
LIM and senescent cell antigen like domains 2 |
| Synonyms |
PINCH2 |
| MMRRC Submission |
043151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5599 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32055346-32091673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32090324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 183
(N183S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025254]
[ENSMUST00000134663]
[ENSMUST00000223753]
[ENSMUST00000224328]
[ENSMUST00000224383]
[ENSMUST00000225404]
|
| AlphaFold |
Q91XD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025254
AA Change: N279S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025254
Gene: ENSMUSG00000024395
AA Change: N279S
| 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: ENSMUST00000134663
|
| SMART Domains |
Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
59 |
761 |
N/A |
SMART |
|
IQ
|
762 |
784 |
1.07e-1 |
SMART |
|
IQ
|
785 |
807 |
7.01e-6 |
SMART |
|
IQ
|
831 |
853 |
4.93e-1 |
SMART |
|
IQ
|
854 |
876 |
1.63e-1 |
SMART |
|
MyTH4
|
989 |
1189 |
1.14e-71 |
SMART |
|
B41
|
1190 |
1409 |
3.66e-16 |
SMART |
|
SH3
|
1501 |
1563 |
3.25e-7 |
SMART |
|
MyTH4
|
1641 |
1790 |
7.66e-55 |
SMART |
|
B41
|
1792 |
2009 |
8.19e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223753
AA Change: N183S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224328
AA Change: N34S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226112
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
| Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
| Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
| Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
| Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
| Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
| Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
| Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
| Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
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 |
|
R3415:Lims2
|
UTSW |
18 |
32,077,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- CAACCAATCTGTTCTCCTGATGG -3'
(R):5'- ATCGGTCTCTGGGATCCTTG -3'
Sequencing Primer
(F):5'- CTCCTGATGGTGGGAGGGAC -3'
(R):5'- GGGATCCTTGGGCTACCTCATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation