Incidental Mutation 'R5217:Pxn'
ID 403529
Institutional Source Beutler Lab
Gene Symbol Pxn
Ensembl Gene ENSMUSG00000029528
Gene Name paxillin
Synonyms Pax
MMRRC Submission 042790-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5217 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 115644735-115694046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 115682974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 92 (A92G)
Ref Sequence ENSEMBL: ENSMUSP00000148843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067268] [ENSMUST00000086523] [ENSMUST00000137716] [ENSMUST00000157050] [ENSMUST00000212819] [ENSMUST00000202564]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000067268
AA Change: A92G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: A92G

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000086523
AA Change: A92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: A92G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Paxillin 1 120 1.9e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153682
Predicted Effect probably benign
Transcript: ENSMUST00000157050
SMART Domains Protein: ENSMUSP00000143926
Gene: ENSMUSG00000029528

DomainStartEndE-ValueType
Pfam:Paxillin 1 106 1.4e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212819
AA Change: A92G

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139834
Predicted Effect probably benign
Transcript: ENSMUST00000202564
SMART Domains Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1147 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (80/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Abhd11 T A 5: 135,040,398 (GRCm39) W144R probably damaging Het
Abhd2 A G 7: 78,973,378 (GRCm39) E119G probably benign Het
Acbd3 A G 1: 180,553,938 (GRCm39) Y91C probably benign Het
Aox4 C A 1: 58,285,400 (GRCm39) S628* probably null Het
Bahcc1 T A 11: 120,165,285 (GRCm39) Y905* probably null Het
Baiap2l2 T G 15: 79,154,687 (GRCm39) S211R probably benign Het
Cab39l T A 14: 59,764,258 (GRCm39) Y206* probably null Het
Cacna1i A T 15: 80,275,041 (GRCm39) T1830S possibly damaging Het
Catsperg1 A T 7: 28,889,723 (GRCm39) L793* probably null Het
Cdh10 G T 15: 18,966,108 (GRCm39) V198F probably damaging Het
Cenpk A T 13: 104,385,917 (GRCm39) I271F probably damaging Het
Chchd4 A T 6: 91,442,260 (GRCm39) C53S probably damaging Het
Cluh T G 11: 74,550,531 (GRCm39) C252W probably damaging Het
Cmklr1 G T 5: 113,752,710 (GRCm39) A97E probably damaging Het
Coil C A 11: 88,871,987 (GRCm39) A116D possibly damaging Het
Eif1ad9 A G 12: 88,296,196 (GRCm39) H58R probably benign Het
F830045P16Rik C A 2: 129,305,493 (GRCm39) V294F probably damaging Het
Fgd6 T A 10: 93,969,939 (GRCm39) M1196K possibly damaging Het
Gabra5 G A 7: 57,140,604 (GRCm39) S31L probably benign Het
Gm7135 A T 1: 97,362,790 (GRCm39) noncoding transcript Het
Gon4l C A 3: 88,794,882 (GRCm39) T695K probably damaging Het
Hectd4 A G 5: 121,491,614 (GRCm39) H3684R possibly damaging Het
Ica1l T A 1: 60,054,917 (GRCm39) M105L probably benign Het
Ift70a1 A G 2: 75,811,147 (GRCm39) L312P probably damaging Het
Igkv8-24 A T 6: 70,194,386 (GRCm39) V7D probably damaging Het
Klf10 G A 15: 38,296,331 (GRCm39) R420W probably damaging Het
Klrc2 C A 6: 129,633,843 (GRCm39) W177C probably damaging Het
Krit1 T A 5: 3,856,451 (GRCm39) C15* probably null Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrrc37a C T 11: 103,347,780 (GRCm39) V2972I unknown Het
Mapkapk5 T C 5: 121,672,492 (GRCm39) D13G probably damaging Het
Mcph1 T A 8: 18,838,489 (GRCm39) L804I probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrto4 A G 4: 139,075,770 (GRCm39) Y119H probably benign Het
Nbeal2 G T 9: 110,461,158 (GRCm39) A1635E possibly damaging Het
Ndc1 T C 4: 107,246,773 (GRCm39) S399P probably benign Het
Ndufv2 A G 17: 66,394,424 (GRCm39) I147T probably damaging Het
Neb C A 2: 52,052,142 (GRCm39) E382* probably null Het
Nhsl3 C T 4: 129,116,478 (GRCm39) E729K probably damaging Het
Nme8 T A 13: 19,880,861 (GRCm39) I32F probably damaging Het
Obox5 T A 7: 15,491,793 (GRCm39) probably null Het
Or8g23 A G 9: 38,971,065 (GRCm39) V299A probably benign Het
Pcdhb19 A T 18: 37,630,939 (GRCm39) M245L probably benign Het
Pex5l A T 3: 33,061,477 (GRCm39) probably null Het
Phrf1 T G 7: 140,840,616 (GRCm39) D1270E probably damaging Het
Pik3r5 A G 11: 68,382,790 (GRCm39) K277E possibly damaging Het
Ppan T C 9: 20,802,221 (GRCm39) V204A possibly damaging Het
Ppp1r9a A T 6: 5,115,367 (GRCm39) N830I probably damaging Het
Qsox1 A G 1: 155,666,742 (GRCm39) V249A probably benign Het
Rgl3 T A 9: 21,898,944 (GRCm39) *88C probably null Het
Rps6kc1 A T 1: 190,515,802 (GRCm39) W975R probably damaging Het
Sash1 G T 10: 8,656,368 (GRCm39) A208D possibly damaging Het
Simc1 A T 13: 54,687,709 (GRCm39) probably benign Het
Sox7 T C 14: 64,185,449 (GRCm39) Y162H probably damaging Het
Srp72 T A 5: 77,128,375 (GRCm39) L171H probably damaging Het
Stab1 T A 14: 30,881,476 (GRCm39) Y577F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tagln T C 9: 45,842,177 (GRCm39) T139A probably benign Het
Thbs3 T C 3: 89,130,471 (GRCm39) probably null Het
Tmem216 G A 19: 10,529,155 (GRCm39) T131M possibly damaging Het
Tmprss11c A G 5: 86,404,249 (GRCm39) V142A probably benign Het
Trarg1 C G 11: 76,585,102 (GRCm39) A164G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubtf T C 11: 102,199,128 (GRCm39) M511V probably null Het
Ugt2b36 A T 5: 87,214,114 (GRCm39) V510E probably damaging Het
Vars2 G C 17: 35,969,041 (GRCm39) P887A probably damaging Het
Vmn2r80 A G 10: 79,004,980 (GRCm39) M206V possibly damaging Het
Zbtb5 A G 4: 44,993,990 (GRCm39) F465L probably benign Het
Zfp119a G A 17: 56,172,425 (GRCm39) Q473* probably null Het
Zfp607a T G 7: 27,577,269 (GRCm39) I113R probably damaging Het
Zfp998 A T 13: 66,581,787 (GRCm39) L28H probably damaging Het
Zmym6 C A 4: 126,999,167 (GRCm39) N450K possibly damaging Het
Other mutations in Pxn
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4127: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
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'- ATTAATCACCTGACCGGCCC -3'
(R):5'- TCCTCAACTACACAGATGCTG -3'

Sequencing Primer
(F):5'- CGTGGAAATTCCCTGTGAGAC -3'
(R):5'- ACCGCTGTGAGGTGGCAG -3'
Posted On 2016-07-22