Incidental Mutation 'R6323:Palld'
| ID |
510203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palld
|
| Ensembl Gene |
ENSMUSG00000058056 |
| Gene Name |
palladin, cytoskeletal associated protein |
| Synonyms |
2410003B16Rik |
| MMRRC Submission |
044477-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61964467-62355724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62173727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 311
(W311R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034057]
[ENSMUST00000121493]
[ENSMUST00000121785]
|
| AlphaFold |
Q9ET54 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034057
AA Change: W311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: W311R
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
290 |
358 |
1.45e-9 |
SMART |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
IGc2
|
460 |
535 |
1.6e-11 |
SMART |
|
low complexity region
|
639 |
667 |
N/A |
INTRINSIC |
|
IGc2
|
796 |
865 |
3.1e-9 |
SMART |
|
low complexity region
|
881 |
906 |
N/A |
INTRINSIC |
|
IGc2
|
930 |
998 |
4.92e-12 |
SMART |
|
IGc2
|
1029 |
1098 |
1.61e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121493
|
| SMART Domains |
Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
71 |
146 |
1.6e-11 |
SMART |
|
low complexity region
|
250 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
451 |
N/A |
INTRINSIC |
|
IGc2
|
632 |
701 |
3.1e-9 |
SMART |
|
low complexity region
|
717 |
742 |
N/A |
INTRINSIC |
|
IGc2
|
766 |
834 |
4.92e-12 |
SMART |
|
IGc2
|
865 |
934 |
1.61e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121785
AA Change: W311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: W311R
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
290 |
358 |
1.45e-9 |
SMART |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
IGc2
|
460 |
535 |
1.6e-11 |
SMART |
|
low complexity region
|
639 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
840 |
N/A |
INTRINSIC |
|
IGc2
|
1038 |
1107 |
3.1e-9 |
SMART |
|
low complexity region
|
1123 |
1148 |
N/A |
INTRINSIC |
|
IGc2
|
1172 |
1240 |
4.92e-12 |
SMART |
|
IGc2
|
1271 |
1340 |
1.61e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149042
|
| Meta Mutation Damage Score |
0.9625 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. [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 |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,568 (GRCm39) |
T171A |
unknown |
Het |
| Akr1c6 |
A |
G |
13: 4,497,017 (GRCm39) |
K153R |
possibly damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,423 (GRCm39) |
I601F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,676,404 (GRCm39) |
Y8C |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,962,286 (GRCm39) |
I1816V |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,263,577 (GRCm39) |
T1294S |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,026,161 (GRCm39) |
S952P |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,761 (GRCm39) |
N329S |
probably damaging |
Het |
| Ceacam1 |
A |
C |
7: 25,174,076 (GRCm39) |
L193R |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,305,337 (GRCm39) |
S143P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,548,395 (GRCm39) |
D1342G |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,451,791 (GRCm39) |
T701K |
probably damaging |
Het |
| Cpt1b |
C |
A |
15: 89,303,266 (GRCm39) |
M596I |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,416,223 (GRCm39) |
V21A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,203,889 (GRCm39) |
V579I |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,405,537 (GRCm39) |
E84G |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,325,390 (GRCm39) |
D254G |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,925,063 (GRCm39) |
V10A |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,011,976 (GRCm39) |
A116S |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,270,659 (GRCm39) |
K584* |
probably null |
Het |
| Lrrc43 |
G |
T |
5: 123,641,949 (GRCm39) |
G600W |
probably damaging |
Het |
| Madd |
G |
T |
2: 90,991,783 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
A |
G |
12: 73,214,878 (GRCm39) |
D65G |
probably damaging |
Het |
| Nsmf |
A |
G |
2: 24,945,063 (GRCm39) |
N42S |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,046 (GRCm39) |
L23P |
possibly damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,645 (GRCm39) |
L48P |
probably damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,321 (GRCm39) |
V352E |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,967 (GRCm39) |
K51R |
probably damaging |
Het |
| Rpl7l1 |
C |
A |
17: 47,093,564 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,721 (GRCm39) |
G481S |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,118,916 (GRCm39) |
T4698I |
probably benign |
Het |
| Trav6-1 |
T |
C |
14: 52,876,248 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,650,522 (GRCm39) |
C103S |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,267,303 (GRCm39) |
H305L |
probably damaging |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
probably benign |
Het |
|
| Other mutations in Palld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Palld
|
APN |
8 |
61,968,969 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01083:Palld
|
APN |
8 |
61,991,841 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01644:Palld
|
APN |
8 |
62,330,512 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01672:Palld
|
APN |
8 |
62,330,536 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01941:Palld
|
APN |
8 |
61,988,734 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02037:Palld
|
APN |
8 |
61,978,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Palld
|
APN |
8 |
62,330,476 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02537:Palld
|
APN |
8 |
62,137,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02632:Palld
|
APN |
8 |
61,968,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02809:Palld
|
APN |
8 |
61,968,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Palld
|
APN |
8 |
62,330,029 (GRCm39) |
nonsense |
probably null |
|
|
IGL03400:Palld
|
APN |
8 |
61,966,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Palld
|
UTSW |
8 |
61,978,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Palld
|
UTSW |
8 |
61,978,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0745:Palld
|
UTSW |
8 |
62,330,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Palld
|
UTSW |
8 |
61,966,491 (GRCm39) |
frame shift |
probably null |
|
|
R1342:Palld
|
UTSW |
8 |
61,975,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1893:Palld
|
UTSW |
8 |
61,969,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Palld
|
UTSW |
8 |
62,137,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2102:Palld
|
UTSW |
8 |
61,986,467 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2129:Palld
|
UTSW |
8 |
62,330,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2246:Palld
|
UTSW |
8 |
62,330,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3545:Palld
|
UTSW |
8 |
62,003,112 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3815:Palld
|
UTSW |
8 |
62,002,871 (GRCm39) |
intron |
probably benign |
|
|
R3824:Palld
|
UTSW |
8 |
62,162,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Palld
|
UTSW |
8 |
62,140,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4781:Palld
|
UTSW |
8 |
62,330,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4836:Palld
|
UTSW |
8 |
62,140,415 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4871:Palld
|
UTSW |
8 |
62,002,815 (GRCm39) |
intron |
probably benign |
|
|
R4963:Palld
|
UTSW |
8 |
62,156,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Palld
|
UTSW |
8 |
62,003,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5128:Palld
|
UTSW |
8 |
62,173,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5343:Palld
|
UTSW |
8 |
62,002,849 (GRCm39) |
intron |
probably benign |
|
|
R5421:Palld
|
UTSW |
8 |
61,969,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Palld
|
UTSW |
8 |
62,003,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5561:Palld
|
UTSW |
8 |
61,969,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Palld
|
UTSW |
8 |
61,991,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Palld
|
UTSW |
8 |
62,137,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5915:Palld
|
UTSW |
8 |
61,986,386 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6153:Palld
|
UTSW |
8 |
62,003,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Palld
|
UTSW |
8 |
61,966,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6659:Palld
|
UTSW |
8 |
61,986,477 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7016:Palld
|
UTSW |
8 |
61,969,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Palld
|
UTSW |
8 |
61,969,679 (GRCm39) |
missense |
unknown |
|
|
R7145:Palld
|
UTSW |
8 |
61,985,051 (GRCm39) |
missense |
unknown |
|
|
R7386:Palld
|
UTSW |
8 |
61,985,086 (GRCm39) |
missense |
unknown |
|
|
R7407:Palld
|
UTSW |
8 |
61,968,975 (GRCm39) |
nonsense |
probably null |
|
|
R7723:Palld
|
UTSW |
8 |
62,164,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Palld
|
UTSW |
8 |
62,330,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Palld
|
UTSW |
8 |
62,164,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Palld
|
UTSW |
8 |
62,138,006 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8775-TAIL:Palld
|
UTSW |
8 |
62,138,006 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8887:Palld
|
UTSW |
8 |
61,986,512 (GRCm39) |
missense |
unknown |
|
|
R8906:Palld
|
UTSW |
8 |
62,003,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8969:Palld
|
UTSW |
8 |
62,137,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Palld
|
UTSW |
8 |
61,969,735 (GRCm39) |
missense |
unknown |
|
|
R8990:Palld
|
UTSW |
8 |
61,968,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Palld
|
UTSW |
8 |
62,173,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9145:Palld
|
UTSW |
8 |
62,330,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9221:Palld
|
UTSW |
8 |
61,969,591 (GRCm39) |
missense |
unknown |
|
|
R9228:Palld
|
UTSW |
8 |
62,173,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Palld
|
UTSW |
8 |
61,978,189 (GRCm39) |
missense |
unknown |
|
|
R9355:Palld
|
UTSW |
8 |
61,969,691 (GRCm39) |
missense |
unknown |
|
|
R9376:Palld
|
UTSW |
8 |
61,969,691 (GRCm39) |
missense |
unknown |
|
|
R9377:Palld
|
UTSW |
8 |
61,969,691 (GRCm39) |
missense |
unknown |
|
|
R9378:Palld
|
UTSW |
8 |
61,969,691 (GRCm39) |
missense |
unknown |
|
|
R9467:Palld
|
UTSW |
8 |
61,968,264 (GRCm39) |
missense |
unknown |
|
|
R9638:Palld
|
UTSW |
8 |
62,002,788 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGACCATTCACACTTTGCCC -3'
(R):5'- AGAAATCCTTTGTGGGCTAAGTATG -3'
Sequencing Primer
(F):5'- TTACCTTCAATGAACACCTCTGCAG -3'
(R):5'- ATCCTTTGTGGGCTAAGTATGTCTAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation