Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Palld'

373244

Institutional Source

Beutler Lab

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4836 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

61511433-61902690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61687381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 531 (T531S)

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: T531S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: T531S

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: T142S

SMART Domains

Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: T142S

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 benign
Transcript: ENSMUST00000121785
AA Change: T531S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: T531S

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: ENSMUST00000149042

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	C	7: 140,299,108	I1051T	probably benign	Het
Acox1	A	T	11: 116,175,326	S453T	probably benign	Het
AF366264	C	T	8: 13,838,007	S28N	probably benign	Het
Ahnak2	A	T	12: 112,774,116	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,768,152	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,949,925		probably benign	Het
Atg2b	T	C	12: 105,646,814	N1166S	probably benign	Het
Atl3	C	T	19: 7,509,545	R77*	probably null	Het
Bend6	T	C	1: 33,883,573		probably benign	Het
Ccnt1	C	A	15: 98,567,563	R25L	probably damaging	Het
Cct4	A	G	11: 23,002,898	T525A	probably benign	Het
Cep350	T	C	1: 155,928,833	I835V	probably damaging	Het
Clcn1	G	T	6: 42,309,964	V652L	probably damaging	Het
Cntln	T	A	4: 85,049,720	Y725*	probably null	Het
Cog5	T	C	12: 31,919,733	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,111,424		probably benign	Het
Dnm2	A	T	9: 21,491,330		probably benign	Het
Dnmt1	C	T	9: 20,908,558	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,200,367	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,249,003	V129M	probably damaging	Het
Epha3	A	T	16: 63,583,557	M726K	probably damaging	Het
Fat3	A	G	9: 16,377,723	L168P	probably damaging	Het
Frem3	T	A	8: 80,663,397	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,608,141	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,145,410		noncoding transcript	Het
Gm5592	C	T	7: 41,215,534		probably benign	Het
Hils1	T	A	11: 94,968,017	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,287,732	913	probably null	Het
Isl1	A	G	13: 116,303,083	M243T	probably benign	Het
Itpr1	A	T	6: 108,389,537	I142F	probably damaging	Het
Jak1	T	C	4: 101,155,066	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,233,446	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,412,402	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,593,315		probably null	Het
Lexm	T	A	4: 106,610,527		probably null	Het
Lilra5	T	C	7: 4,238,714	F171L	possibly damaging	Het
Map1b	A	G	13: 99,431,054	S1720P	unknown	Het
Mcpt1	A	T	14: 56,019,560	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,026	D238E	possibly damaging	Het
Mov10l1	A	T	15: 89,020,269	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,904,270	P101S	probably damaging	Het
Myh3	G	T	11: 67,096,939	A1413S	probably benign	Het
Nat6	A	T	9: 107,583,539	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Olfr1009	A	G	2: 85,721,449	I15V	probably benign	Het
Olfr1054	A	T	2: 86,333,227	M43K	probably benign	Het
Olfr1056	G	A	2: 86,355,750	L211F	probably benign	Het
Olfr1196	A	G	2: 88,701,200	I43T	probably damaging	Het
Olfr330	A	C	11: 58,529,482	M168R	probably damaging	Het
Olfr533	A	G	7: 140,467,076	R292G	probably damaging	Het
Parp4	A	G	14: 56,585,738	E105G	probably benign	Het
Phf11a	A	T	14: 59,287,579	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Rad50	A	T	11: 53,650,653	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,674,761		probably null	Het
Rrbp1	G	A	2: 143,988,417	T610I	possibly damaging	Het
Slc4a10	A	G	2: 62,268,187	Y555C	probably damaging	Het
Slc5a2	A	G	7: 128,267,505		probably null	Het
Smoc1	T	A	12: 81,179,548	D371E	probably damaging	Het
Stmn1	T	A	4: 134,470,184		probably benign	Het
Sulf1	C	T	1: 12,842,686	L715F	probably benign	Het
Surf1	T	C	2: 26,914,243	T180A	possibly damaging	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tchh	A	T	3: 93,445,148	R632W	unknown	Het
Tchh	A	T	3: 93,447,588	D1445V	unknown	Het
Tctn1	A	T	5: 122,245,505	M505K	probably benign	Het
Tdrkh	T	A	3: 94,425,590	I150N	probably damaging	Het
Tespa1	C	T	10: 130,362,159	T350I	probably benign	Het
Thbs1	A	G	2: 118,115,018	Y326C	possibly damaging	Het
Tmem208	C	T	8: 105,328,664	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,445,388	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,431,582	R67W	probably damaging	Het
Ttn	A	G	2: 76,711,197	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,222,253	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,088,121	I82L	probably benign	Het
Zfp65	A	G	13: 67,708,875	V95A	probably benign	Het
Zfp985	T	A	4: 147,584,155	S493R	probably damaging	Het

Other mutations in Palld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Palld	APN	8	61515935	missense	possibly damaging	0.77
IGL01083:Palld	APN	8	61538807	missense	probably benign	0.44
IGL01644:Palld	APN	8	61877478	missense	probably benign	0.28
IGL01672:Palld	APN	8	61877502	missense	probably benign	0.22
IGL01941:Palld	APN	8	61535700	missense	probably benign	0.44
IGL02037:Palld	APN	8	61525114	missense	probably damaging	1.00
IGL02126:Palld	APN	8	61877442	missense	possibly damaging	0.82
IGL02537:Palld	APN	8	61684934	missense	probably benign	0.05
IGL02632:Palld	APN	8	61515245	missense	probably damaging	1.00
IGL02809:Palld	APN	8	61515247	missense	probably damaging	1.00
IGL02901:Palld	APN	8	61876995	nonsense	probably null
IGL03400:Palld	APN	8	61513455	missense	probably damaging	1.00
R0098:Palld	UTSW	8	61525086	missense	probably damaging	1.00
R0098:Palld	UTSW	8	61525086	missense	probably damaging	1.00
R0745:Palld	UTSW	8	61877703	missense	probably damaging	1.00
R1263:Palld	UTSW	8	61513457	frame shift	probably null
R1342:Palld	UTSW	8	61522882	critical splice donor site	probably null
R1893:Palld	UTSW	8	61516621	missense	probably damaging	1.00
R2017:Palld	UTSW	8	61684765	missense	probably damaging	0.99
R2102:Palld	UTSW	8	61533433	missense	possibly damaging	0.82
R2129:Palld	UTSW	8	61877361	missense	probably benign	0.00
R2246:Palld	UTSW	8	61877135	missense	probably benign	0.01
R3545:Palld	UTSW	8	61550078	missense	possibly damaging	0.95
R3815:Palld	UTSW	8	61549837	intron	probably benign
R3824:Palld	UTSW	8	61709033	missense	probably damaging	1.00
R4412:Palld	UTSW	8	61687372	missense	probably damaging	0.98
R4781:Palld	UTSW	8	61877028	missense	probably benign	0.01
R4871:Palld	UTSW	8	61549781	intron	probably benign
R4963:Palld	UTSW	8	61703210	missense	probably damaging	1.00
R5036:Palld	UTSW	8	61550162	missense	probably damaging	1.00
R5128:Palld	UTSW	8	61720588	missense	probably damaging	1.00
R5343:Palld	UTSW	8	61549815	intron	probably benign
R5421:Palld	UTSW	8	61516550	missense	probably damaging	1.00
R5427:Palld	UTSW	8	61550072	missense	probably benign	0.01
R5561:Palld	UTSW	8	61516585	missense	probably damaging	1.00
R5651:Palld	UTSW	8	61538788	missense	probably damaging	1.00
R5679:Palld	UTSW	8	61684945	missense	possibly damaging	0.95
R5915:Palld	UTSW	8	61533352	critical splice donor site	probably null
R6153:Palld	UTSW	8	61550152	missense	probably damaging	1.00
R6276:Palld	UTSW	8	61513423	missense	probably damaging	1.00
R6323:Palld	UTSW	8	61720693	missense	probably damaging	1.00
R6659:Palld	UTSW	8	61533443	missense	probably benign	0.28
R7016:Palld	UTSW	8	61515998	missense	probably damaging	1.00
R7124:Palld	UTSW	8	61516645	missense	unknown
R7145:Palld	UTSW	8	61532017	missense	unknown
R7386:Palld	UTSW	8	61532052	missense	unknown
R7407:Palld	UTSW	8	61515941	nonsense	probably null
R7723:Palld	UTSW	8	61711458	missense	probably damaging	1.00
R8029:Palld	UTSW	8	61877312	missense	probably damaging	1.00
R8402:Palld	UTSW	8	61711406	missense	probably damaging	1.00
R8775:Palld	UTSW	8	61684972	missense	possibly damaging	0.73
R8775-TAIL:Palld	UTSW	8	61684972	missense	possibly damaging	0.73
R8887:Palld	UTSW	8	61533478	missense	unknown
R8906:Palld	UTSW	8	61550164	critical splice donor site	probably null
R8969:Palld	UTSW	8	61684849	missense	probably damaging	1.00
R8971:Palld	UTSW	8	61516701	missense	unknown
R8990:Palld	UTSW	8	61515245	missense	probably damaging	1.00
R9012:Palld	UTSW	8	61720663	missense	possibly damaging	0.85
R9145:Palld	UTSW	8	61877073	missense	probably benign	0.01
R9221:Palld	UTSW	8	61516557	missense	unknown
R9228:Palld	UTSW	8	61720537	missense	probably damaging	1.00
R9311:Palld	UTSW	8	61525155	missense	unknown
R9355:Palld	UTSW	8	61516657	missense	unknown
R9376:Palld	UTSW	8	61516657	missense	unknown
R9377:Palld	UTSW	8	61516657	missense	unknown
R9378:Palld	UTSW	8	61516657	missense	unknown
R9467:Palld	UTSW	8	61515230	missense	unknown
R9638:Palld	UTSW	8	61549754	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGCCCTTTGTTTACAGATGAGAC -3'
(R):5'- AAGCCTTATACAAGCCTGAGAGC -3'

Sequencing Primer
(F):5'- CCTTTGTTTACAGATGAGACACCTG -3'
(R):5'- TACAAGCCTGAGAGCTGCTTTAAG -3'

Posted On

2016-03-01