Incidental Mutation 'R4127:Pxn'
| ID |
315433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pxn
|
| Ensembl Gene |
ENSMUSG00000029528 |
| Gene Name |
paxillin |
| Synonyms |
Pax |
| MMRRC Submission |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4127 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115644735-115694046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115684966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 264
(R264G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067268]
[ENSMUST00000086523]
[ENSMUST00000137716]
[ENSMUST00000202564]
[ENSMUST00000212819]
[ENSMUST00000157050]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067268
AA Change: R264G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: R264G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Pfam:Paxillin
|
44 |
253 |
1.6e-98 |
PFAM |
|
low complexity region
|
281 |
300 |
N/A |
INTRINSIC |
|
LIM
|
323 |
374 |
3.99e-23 |
SMART |
|
LIM
|
382 |
433 |
2.36e-16 |
SMART |
|
LIM
|
441 |
492 |
8.16e-20 |
SMART |
|
LIM
|
500 |
551 |
8.62e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086523
AA Change: R264G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: R264G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Pfam:Paxillin
|
44 |
253 |
4.8e-97 |
PFAM |
|
low complexity region
|
315 |
334 |
N/A |
INTRINSIC |
|
LIM
|
357 |
408 |
3.99e-23 |
SMART |
|
LIM
|
416 |
467 |
2.36e-16 |
SMART |
|
LIM
|
475 |
526 |
8.16e-20 |
SMART |
|
LIM
|
534 |
585 |
8.62e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137716
|
| SMART Domains |
Protein: ENSMUSP00000144513
Gene: ENSMUSG00000029528
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paxillin
|
1 |
120 |
1.9e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152156
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202564
AA Change: R131G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528
AA Change: R131G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paxillin
|
1 |
120 |
5.8e-59 |
PFAM |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
LIM
|
190 |
241 |
1.9e-25 |
SMART |
|
LIM
|
249 |
300 |
1.1e-18 |
SMART |
|
LIM
|
308 |
359 |
4e-22 |
SMART |
|
LIM
|
367 |
418 |
4.4e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212819
AA Change: R264G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157050
|
| SMART Domains |
Protein: ENSMUSP00000143926
Gene: ENSMUSG00000029528
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paxillin
|
1 |
106 |
1.4e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.1452 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutant mice die at E9.5 with defects in the amnion, allantois, and headfold structures, as well as impaired growth, and abnormal heart and somite development; mutant fibroblasts show aberrant fibronectin-regulated focal adhesion dynamics, and disorganized membrane cytoskeletal structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
Het |
| Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
probably null |
Het |
|
| Other mutations in Pxn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02332:Pxn
|
APN |
5 |
115,682,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02432:Pxn
|
APN |
5 |
115,683,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02454:Pxn
|
APN |
5 |
115,690,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Pxn
|
UTSW |
5 |
115,692,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0778:Pxn
|
UTSW |
5 |
115,690,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Pxn
|
UTSW |
5 |
115,690,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Pxn
|
UTSW |
5 |
115,683,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Pxn
|
UTSW |
5 |
115,683,726 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2145:Pxn
|
UTSW |
5 |
115,690,815 (GRCm39) |
unclassified |
probably benign |
|
|
R4124:Pxn
|
UTSW |
5 |
115,684,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4126:Pxn
|
UTSW |
5 |
115,684,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Pxn
|
UTSW |
5 |
115,690,779 (GRCm39) |
unclassified |
probably benign |
|
|
R4717:Pxn
|
UTSW |
5 |
115,690,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5217:Pxn
|
UTSW |
5 |
115,682,974 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5332:Pxn
|
UTSW |
5 |
115,682,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Pxn
|
UTSW |
5 |
115,689,551 (GRCm39) |
missense |
probably benign |
|
|
R5681:Pxn
|
UTSW |
5 |
115,682,593 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6629:Pxn
|
UTSW |
5 |
115,692,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Pxn
|
UTSW |
5 |
115,689,955 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7516:Pxn
|
UTSW |
5 |
115,644,922 (GRCm39) |
missense |
unknown |
|
|
R7671:Pxn
|
UTSW |
5 |
115,686,606 (GRCm39) |
missense |
not run |
|
|
R7749:Pxn
|
UTSW |
5 |
115,686,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7866:Pxn
|
UTSW |
5 |
115,686,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8196:Pxn
|
UTSW |
5 |
115,683,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8244:Pxn
|
UTSW |
5 |
115,690,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Pxn
|
UTSW |
5 |
115,686,680 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0018:Pxn
|
UTSW |
5 |
115,683,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Pxn
|
UTSW |
5 |
115,684,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0065:Pxn
|
UTSW |
5 |
115,689,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Pxn
|
UTSW |
5 |
115,691,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGGGTACTGGAGACCTGATC -3'
(R):5'- CCAGCTAAAAGAGGCTCTGG -3'
Sequencing Primer
(F):5'- TACTGGAGACCTGATCCCCTGTG -3'
(R):5'- CAGCTAAAAGAGGCTCTGGTTTCTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation