Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Palld'

489390

Institutional Source

Beutler Lab

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6153 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

61511433-61902690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61550152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 304 (N304K)

Ref Sequence

ENSEMBL: ENSMUSP00000113874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121200] [ENSMUST00000121493] [ENSMUST00000121785] [ENSMUST00000135439]

AlphaFold

Q9ET54

Predicted Effect

probably benign
Transcript: ENSMUST00000034057

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056

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: ENSMUST00000121200

SMART Domains

Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056

Domain	Start	End	E-Value	Type
low complexity region	37	68	N/A	INTRINSIC
low complexity region	77	112	N/A	INTRINSIC
IGc2	293	362	3.1e-9	SMART
low complexity region	378	403	N/A	INTRINSIC
IGc2	427	495	4.92e-12	SMART
IGc2	526	595	1.61e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121493
AA Change: N304K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: N304K

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: N693K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: N693K

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

probably benign
Transcript: ENSMUST00000135439

SMART Domains

Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056

Domain	Start	End	E-Value	Type
IGc2	82	151	3.1e-9	SMART
low complexity region	167	192	N/A	INTRINSIC
IGc2	216	284	4.92e-12	SMART
internal_repeat_1	302	336	1.47e-9	PROSPERO

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,301,259		probably null	Het
Ache	T	C	5: 137,291,855	I394T	probably damaging	Het
Acsm1	G	A	7: 119,633,066	G62D	probably damaging	Het
Actrt3	T	A	3: 30,599,750	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,451,083	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,326,147	F40S	possibly damaging	Het
Ano8	T	C	8: 71,480,797		probably benign	Het
Arid1b	T	A	17: 5,242,832	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,623,482	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,254,282	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,305,515	G44V	probably damaging	Het
Chrna1	G	T	2: 73,573,309	H99N	probably benign	Het
Cnksr1	T	C	4: 134,233,893	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,999,360		probably null	Het
D3Ertd254e	A	G	3: 36,165,154	H442R	possibly damaging	Het
Daglb	T	C	5: 143,503,341	L651P	probably benign	Het
Ddx60	A	G	8: 61,945,940	D231G	possibly damaging	Het
Ehd4	A	C	2: 120,102,423	F174C	probably damaging	Het
Emsy	G	T	7: 98,610,853	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,559,156	E217G	probably benign	Het
Gm11596	A	T	11: 99,792,698	C199S	unknown	Het
Gmps	T	G	3: 64,001,543	C489G	probably benign	Het
Gpsm1	T	C	2: 26,325,413	Y296H	probably benign	Het
Heatr5b	T	C	17: 78,831,441	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,889,498	W268R	probably damaging	Het
Il27ra	T	C	8: 84,032,144		probably null	Het
Itga5	T	A	15: 103,357,453	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,473,827	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,716,172	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,295,758	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,992,107	L341P	probably damaging	Het
Mecom	T	C	3: 29,993,648	E225G	possibly damaging	Het
Megf8	G	A	7: 25,347,371	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,367,882	D142V	probably damaging	Het
Muc5b	A	T	7: 141,861,444	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 33,898,879	I480N	probably damaging	Het
Olfr1329	G	A	4: 118,916,747	S240F	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcsk5	A	G	19: 17,511,492	L988P	probably damaging	Het
Prmt1	A	T	7: 44,981,827	F34I	probably damaging	Het
Pzp	A	G	6: 128,489,016	S1234P	probably benign	Het
Ralb	A	T	1: 119,478,140		probably null	Het
Robo2	T	A	16: 73,920,729	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,355,562	I283T	probably benign	Het
Sec62	A	T	3: 30,810,482	K165M	unknown	Het
Sez6	A	G	11: 77,977,822	D974G	probably damaging	Het
Shc2	T	A	10: 79,629,918	I187F	possibly damaging	Het
Shroom3	G	A	5: 92,964,408	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,412,017	N481K	possibly damaging	Het
Skil	T	A	3: 31,097,853	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,909,535	V432A	probably damaging	Het
Slit3	G	T	11: 35,700,483	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,391,806	Y644C	probably damaging	Het
Snx33	T	A	9: 56,926,699	I29F	possibly damaging	Het
Sos1	T	A	17: 80,449,335	I263L	probably benign	Het
Susd2	C	T	10: 75,638,019	A581T	probably damaging	Het
Tbpl2	C	A	2: 24,076,016	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,795	S171P	probably benign	Het
Tprkb	T	A	6: 85,916,190		probably null	Het
Tspan11	G	A	6: 127,939,098	S119N	probably benign	Het
Ulk2	A	T	11: 61,781,746	V922D	probably damaging	Het
Zfp976	A	C	7: 42,614,186	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,489,770	T426I	probably benign	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
R4836:Palld	UTSW	8	61687381	missense	probably benign	0.11
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
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'- ACAATGGTGACGGCAAGCTG -3'
(R):5'- GAGAAACTCTGTGTATGCGTGC -3'

Sequencing Primer
(F):5'- ATGAACTGCTTAGGGCGC -3'
(R):5'- GAAACTCTGTGTATGCGTGCTTCTC -3'

Posted On

2017-10-10