Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Palld'

708337

Institutional Source

Beutler Lab

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61511433-61902690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61516657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1211 (R1211H)

Ref Sequence

ENSEMBL: ENSMUSP00000112442 (fasta)

Gene Model

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

AlphaFold

Q9ET54

Predicted Effect

probably damaging
Transcript: ENSMUST00000034057
AA Change: R969H

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

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: R969H

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 damaging
Transcript: ENSMUST00000121200
AA Change: R466H

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

SMART Domains

Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056
AA Change: R466H

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: R805H

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

SMART Domains

Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: R805H

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

unknown
Transcript: ENSMUST00000121785
AA Change: R1211H

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: R1211H

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 damaging
Transcript: ENSMUST00000135439
AA Change: R255H

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

SMART Domains

Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056
AA Change: R255H

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

Coding Region Coverage

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

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	A	T	4: 58,844,114	S551T	probably benign	Het
Ano9	A	G	7: 141,101,904	V747A	probably benign	Het
Arfgef1	G	A	1: 10,199,775	P383L	probably benign	Het
Arhgef4	A	G	1: 34,810,549	E407G	probably benign	Het
Astn1	C	T	1: 158,684,151	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,670,721	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,507,703	R983H	probably benign	Het
Bmp2k	T	A	5: 97,063,507	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474	V107F	probably damaging	Het
Car3	T	A	3: 14,863,604	N11K		Het
Ccdc170	A	G	10: 4,558,695	R640G	probably benign	Het
Cep126	A	G	9: 8,100,037	V832A	possibly damaging	Het
Ces1h	C	T	8: 93,374,521	V49I		Het
Clasp2	T	A	9: 113,835,241	V310D	probably damaging	Het
Comp	C	T	8: 70,376,049	T177M	probably benign	Het
Coro1c	T	C	5: 113,865,665	S98G	probably damaging	Het
Cpa6	C	T	1: 10,409,295	V238I	probably benign	Het
Crebrf	T	C	17: 26,743,120	F397S	probably damaging	Het
Dcpp1	C	A	17: 23,881,013	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,661,091	D533G	possibly damaging	Het
Epha5	T	C	5: 84,106,031	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806	Y476C	probably damaging	Het
Erich5	G	T	15: 34,470,855	V77F	probably damaging	Het
Fat4	A	G	3: 38,981,898	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,585,882	V521E	probably benign	Het
Gm37596	T	C	3: 93,693,000	T21A	possibly damaging	Het
Gm5431	A	G	11: 48,894,448	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,561,815	L95*	probably null	Het
Gphn	A	G	12: 78,492,194	T205A	probably damaging	Het
Grik5	C	A	7: 25,068,172	A28S	possibly damaging	Het
H2-K1	A	G	17: 33,997,146	S300P	probably benign	Het
H2-Oa	T	C	17: 34,094,749	L227P	possibly damaging	Het
Hhip	T	C	8: 80,051,604	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,438,290	M4328L	probably benign	Het
Htt	A	T	5: 34,895,903	M2527L	probably benign	Het
Impdh2	A	T	9: 108,565,203	H466L	probably benign	Het
Itgae	G	A	11: 73,116,080	G384D	probably damaging	Het
Krt90	T	C	15: 101,553,279	S496G	unknown	Het
Krtap5-5	A	G	7: 142,229,377	S179P	unknown	Het
Lif	C	T	11: 4,269,044	R63W	probably damaging	Het
Lrrc10	T	C	10: 117,045,976	V185A	probably damaging	Het
Lrrc27	A	C	7: 139,242,732	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Map2k3	T	C	11: 60,932,229	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,408,124	T33A	probably benign	Het
Mefv	T	A	16: 3,708,018	D795V	probably damaging	Het
Megf6	A	T	4: 154,253,825	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,286,937	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,237,987		probably null	Het
Myom1	T	C	17: 71,077,893	S760P	probably damaging	Het
Ndst4	A	G	3: 125,609,597	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,935,982	N193S	possibly damaging	Het
Olfr1198	A	T	2: 88,746,405	I161N	probably damaging	Het
Olfr1330	G	A	4: 118,893,587	S168N	probably benign	Het
Olfr393	A	G	11: 73,847,817	F103L	probably damaging	Het
Olfr601	T	C	7: 103,358,918	H92R	probably benign	Het
Opa1	T	A	16: 29,613,989	L490H	probably damaging	Het
Opcml	A	C	9: 28,903,354	I301L	probably benign	Het
Pabpc1l	T	C	2: 164,042,549	L402P	probably benign	Het
Peak1	G	T	9: 56,260,170	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,722,962	P406L	probably benign	Het
Qpctl	T	C	7: 19,141,221	H362R	probably damaging	Het
Ripor2	A	G	13: 24,701,711	H643R	probably benign	Het
Scn11a	A	T	9: 119,755,094	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,764,089	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,335,733	D370G	probably benign	Het
Sec24b	A	T	3: 129,993,840	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 126,382,228	I172T	probably damaging	Het
Smc3	T	C	19: 53,634,113		probably null	Het
Smpd3	C	T	8: 106,265,193	V243M	probably damaging	Het
Sos1	T	A	17: 80,415,050	I856F	possibly damaging	Het
Sp2	A	T	11: 96,961,405	L231H	possibly damaging	Het
Syne1	T	C	10: 5,368,255	Y457C	probably damaging	Het
Tekt5	T	C	16: 10,395,404	T6A	possibly damaging	Het
Tln2	G	T	9: 67,355,247	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,181,171	S313P	probably damaging	Het
Trmt12	G	A	15: 58,872,975	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,472	D561G	probably benign	Het
Ttn	A	G	2: 76,870,425	V62A		Het
Tubgcp5	T	C	7: 55,817,429		probably null	Het
Unc13a	C	T	8: 71,645,731	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,619,396	C905R	probably damaging	Het
Zfp735	A	G	11: 73,711,536	I435M	probably benign	Het
Zswim4	C	A	8: 84,229,058	G271W	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
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
R9228:Palld	UTSW	8	61720537	missense	probably damaging	1.00
R9311:Palld	UTSW	8	61525155	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'- TTTCAGCACCAGGATTCCC -3'
(R):5'- ACGAACTGACTCTGGATCCG -3'

Sequencing Primer
(F):5'- TGGCTGCCACCTGAAATG -3'
(R):5'- GAACTGACTCTGGATCCGTAACTC -3'

Posted On

2022-04-18