Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Palld'

652236

Institutional Source

Beutler Lab

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

MMRRC Submission

067878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61964467-62355724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62164440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 417 (V417E)

Ref Sequence

ENSEMBL: ENSMUSP00000112442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121493] [ENSMUST00000121785]

AlphaFold

Q9ET54

Predicted Effect

probably benign
Transcript: ENSMUST00000034057
AA Change: V417E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: V417E

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

unknown
Transcript: ENSMUST00000121493
AA Change: V28E

SMART Domains

Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: V28E

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: V417E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: V417E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,376 (GRCm39)	K579N	probably damaging	Het
Adcy7	T	C	8: 89,035,363 (GRCm39)	V89A	probably benign	Het
Anapc1	G	A	2: 128,472,148 (GRCm39)	S1458L	probably benign	Het
AW551984	T	C	9: 39,508,949 (GRCm39)	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,688,467 (GRCm39)	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,413,879 (GRCm39)	S806T	probably damaging	Het
Clec2m	T	A	6: 129,300,007 (GRCm39)	D157V	possibly damaging	Het
Ddit4l	A	G	3: 137,331,888 (GRCm39)	T85A	probably damaging	Het
Dmxl1	G	A	18: 50,011,393 (GRCm39)	W1183*	probably null	Het
Dmxl1	G	T	18: 50,011,409 (GRCm39)	V1189L	probably benign	Het
Dmxl1	G	C	18: 50,011,394 (GRCm39)	D1184H	probably benign	Het
Evpl	T	C	11: 116,116,197 (GRCm39)	D820G	probably benign	Het
Fam76b	T	C	9: 13,750,972 (GRCm39)	S289P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,378,131 (GRCm39)	W116R	probably damaging	Het
Galnt7	G	A	8: 57,995,953 (GRCm39)	A355V	probably damaging	Het
Klk1b5	T	G	7: 43,867,962 (GRCm39)	F45V	probably benign	Het
Nav2	T	C	7: 49,103,185 (GRCm39)	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,636,750 (GRCm39)	N517S	probably damaging	Het
Or10ak16	A	G	4: 118,750,716 (GRCm39)	I145M	probably benign	Het
Or10d5	T	A	9: 39,861,713 (GRCm39)	Y118F	probably benign	Het
P2rx1	T	C	11: 72,904,715 (GRCm39)	F368L	probably damaging	Het
Robo1	C	A	16: 72,821,385 (GRCm39)	A1375E	probably benign	Het
Rps24	G	T	14: 24,540,829 (GRCm39)		probably benign	Het
Serpind1	A	G	16: 17,154,949 (GRCm39)	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,073,037 (GRCm39)	N628K	probably benign	Het
Tada3	A	T	6: 113,351,774 (GRCm39)	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,177,731 (GRCm39)	L508Q	probably damaging	Het
Thbs1	T	C	2: 117,946,359 (GRCm39)	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,424,718 (GRCm39)		probably benign	Het
Vmn2r3	A	G	3: 64,178,617 (GRCm39)		probably benign	Het
Vwa3b	A	G	1: 37,204,879 (GRCm39)	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,402,127 (GRCm39)	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,740,696 (GRCm39)	P523L	probably damaging	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
R6323:Palld	UTSW	8	62,173,727 (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
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'- AATTCCTATTTGAGCTTGGCTG -3'
(R):5'- CCACACAGCTCTTTTGGCAG -3'

Sequencing Primer
(F):5'- AGCTTGGCTGGTGACTTCC -3'
(R):5'- ATTTTAATGGAAGTAGACCGGGTC -3'

Posted On

2020-10-20