Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Palld'

700017

Institutional Source

Beutler Lab

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61511433-61902690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61720537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 363 (S363T)

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: S363T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: S363T

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: S363T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: S363T

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

Meta Mutation Damage Score

0.2338

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,924,625	A56T	probably benign	Het
2310050C09Rik	C	T	3: 92,868,644	G244D	probably benign	Het
4930438A08Rik	A	T	11: 58,287,470	I119F		Het
Abca12	A	T	1: 71,293,440	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,308,465	Y157*	probably null	Het
Adcy7	G	A	8: 88,318,047		probably null	Het
Adnp	A	G	2: 168,184,878	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,225,279	V493A	probably benign	Het
Ahctf1	T	C	1: 179,784,120	T562A	probably benign	Het
Amotl1	T	A	9: 14,593,024	N296I	possibly damaging	Het
Ankar	A	G	1: 72,674,051	V693A	probably benign	Het
Ankrd16	T	C	2: 11,781,507	V189A	probably benign	Het
Bmp1	A	G	14: 70,519,898	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,271,515	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,928	E127D	probably benign	Het
Cd109	A	T	9: 78,669,760	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,951,298	I2N	unknown	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Chuk	A	T	19: 44,107,350	W15R	probably damaging	Het
Cpvl	C	T	6: 53,974,794	M1I	probably null	Het
Cyfip1	A	G	7: 55,900,010	M642V	probably damaging	Het
Dhh	T	A	15: 98,897,876	R133*	probably null	Het
Dnmt3b	G	A	2: 153,666,060	V212M	probably benign	Het
Dync2li1	A	G	17: 84,649,709	S301G	probably benign	Het
Epas1	A	C	17: 86,826,562	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,354,562	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,384,537	F18L	unknown	Het
Frem1	T	C	4: 83,001,820	E432G	probably damaging	Het
Gpld1	A	T	13: 24,952,917	S73C	probably damaging	Het
Hddc3	A	G	7: 80,343,580	I52V	probably benign	Het
Hmgcll1	A	T	9: 76,084,450	T252S	probably damaging	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Jph2	A	G	2: 163,338,686	V675A	probably benign	Het
Kifap3	T	C	1: 163,862,097	F550S	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
L1td1	T	C	4: 98,737,695	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,336,257	M255I	unknown	Het
Layn	T	A	9: 51,057,537	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,242,073	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,546,938	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,522,556	L243S	possibly damaging	Het
Midn	T	A	10: 80,154,441	H315Q	probably damaging	Het
Myb	C	T	10: 21,154,713	D62N	probably benign	Het
Myh2	T	C	11: 67,186,696	S886P	probably benign	Het
Nemf	T	C	12: 69,341,319	I396V	probably damaging	Het
Nemp1	T	G	10: 127,689,358	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,190,778	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,713,767	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422	I989N	probably benign	Het
Olfr1126	T	A	2: 87,457,563	C133S	possibly damaging	Het
Pcdha11	A	G	18: 37,011,459	D201G	probably damaging	Het
Per2	A	G	1: 91,438,359	C339R	probably damaging	Het
Phactr4	T	C	4: 132,370,563	T455A	possibly damaging	Het
Phc2	T	C	4: 128,723,269	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,276,169	T6A	probably benign	Het
Polr1a	T	C	6: 71,954,771	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,593,289	K13*	probably null	Het
Ptafr	T	C	4: 132,579,302	M1T	probably null	Het
Rbms1	G	A	2: 60,779,743	P208S	probably benign	Het
Scg3	T	A	9: 75,651,673	I419F	probably damaging	Het
Scn1a	T	C	2: 66,299,755	T219A	probably benign	Het
Sec14l4	A	G	11: 4,039,977	D92G	probably damaging	Het
Senp3	G	T	11: 69,678,259	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,337,078	D142G	probably damaging	Het
Skint2	T	C	4: 112,625,842	M148T	possibly damaging	Het
Skiv2l2	A	T	13: 112,914,354		probably null	Het
Slc30a10	T	A	1: 185,455,194	M44K	probably damaging	Het
Snai2	T	A	16: 14,706,928	D99E	probably damaging	Het
Spg7	A	G	8: 123,080,669	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,710,913	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,225,786	F637L	probably benign	Het
Tcam1	A	G	11: 106,286,466	N428S	probably damaging	Het
Tctn3	C	T	19: 40,608,248	R276K	probably benign	Het
Timm29	G	A	9: 21,593,360	R108H	probably damaging	Het
Tlr9	A	T	9: 106,225,553	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tns3	T	C	11: 8,450,094	K1169E	probably damaging	Het
Trim72	A	C	7: 128,009,143	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,634,561	D369E	probably benign	Het
Ttn	A	G	2: 76,752,848	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,075,839	P207S	probably damaging	Het
Unc5d	A	T	8: 28,675,420	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,057,222	P4L	unknown	Het
Vmn1r201	A	G	13: 22,475,500	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,415,489	I63T	probably benign	Het
Zfyve28	T	C	5: 34,217,444	T409A	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
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
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'- CTTGACTGTCAGAACTGTTCAAGG -3'
(R):5'- GCTTGTCCCACAGATGGTTC -3'

Sequencing Primer
(F):5'- CAGTGCACTCCAAGAAGTTTG -3'
(R):5'- CAGATGGTTCTGTGAGGGGAAG -3'

Posted On

2022-02-07