Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Palld'

705559

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 #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61511433-61902690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61525155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1109 (V1109A)

Ref Sequence

ENSEMBL: ENSMUSP00000112442 (fasta)

Gene Model

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

AlphaFold

Q9ET54

Predicted Effect

probably benign
Transcript: ENSMUST00000034057
AA Change: V867A

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: V867A

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

possibly damaging
Transcript: ENSMUST00000121200
AA Change: V364A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056
AA Change: V364A

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

possibly damaging
Transcript: ENSMUST00000121493
AA Change: V703A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: V703A

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: V1109A

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: V1109A

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
AA Change: V153A

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056
AA Change: V153A

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: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310046K23Rik	T	G	3: 92,533,090	Q14P	unknown	Het
5430419D17Rik	A	T	7: 131,257,761	D1137V	unknown	Het
A4gnt	T	C	9: 99,613,763	I84T	possibly damaging	Het
Adad2	G	T	8: 119,615,247	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,647	N208I	probably damaging	Het
Brsk1	G	T	7: 4,706,723		probably null	Het
Cd40	A	T	2: 165,070,747	Q235L	possibly damaging	Het
Cln6	T	C	9: 62,850,618	Y220H	probably damaging	Het
Cngb1	A	T	8: 95,284,166		probably null	Het
Cpne1	A	T	2: 156,077,803	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,292,535		probably null	Het
Cyp4f15	A	G	17: 32,686,165	T41A	probably benign	Het
Dab1	T	C	4: 104,512,266		probably null	Het
Eif4e1b	C	A	13: 54,784,519	H56N	probably benign	Het
Elp3	A	T	14: 65,586,339	D78E	probably benign	Het
Ephx3	C	G	17: 32,189,316	D45H	probably benign	Het
Gabarap	T	A	11: 69,991,723	V4E	probably benign	Het
Gm5105	T	A	3: 138,049,657	D56V	unknown	Het
Gosr2	G	T	11: 103,683,867	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,761,649	V72A	possibly damaging	Het
Irx1	A	G	13: 71,959,297	V422A	probably benign	Het
Kcne4	C	A	1: 78,818,107	D157E	probably benign	Het
Kctd13	A	G	7: 126,942,173	N195S	probably damaging	Het
Kirrel	A	G	3: 87,097,816	V75A	probably benign	Het
Klkb1	T	C	8: 45,269,946	T625A	probably benign	Het
Lama5	A	G	2: 180,196,482		probably null	Het
Lifr	A	G	15: 7,178,937	I599V	possibly damaging	Het
Lin52	A	T	12: 84,529,696	E101V	probably damaging	Het
Liph	C	T	16: 21,956,163	R428Q	probably damaging	Het
Liph	T	C	16: 21,983,930	I130V	probably benign	Het
Lrrc4c	A	C	2: 97,630,735	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,168,142	V78I	probably benign	Het
Msln	C	T	17: 25,753,016	D76N	probably benign	Het
Myh7b	A	G	2: 155,621,333	H495R	probably damaging	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfu1	T	C	6: 87,009,944	V15A	probably benign	Het
Nphp4	T	C	4: 152,524,257	S441P	probably damaging	Het
Nuak1	T	C	10: 84,378,226		probably null	Het
Olfr153	A	G	2: 87,532,014		probably benign	Het
Olfr197	A	T	16: 59,185,743	C247S	unknown	Het
Olfr352	A	T	2: 36,870,393	I276F	probably damaging	Het
Olfr918	A	G	9: 38,672,629	S272P	probably damaging	Het
Pik3c3	G	A	18: 30,312,613	R551H	probably benign	Het
Plcb1	G	A	2: 135,347,465	V838I	probably benign	Het
Plppr4	G	T	3: 117,325,869	T297K	probably damaging	Het
Ptprd	A	G	4: 76,133,083	I67T	probably benign	Het
Rb1cc1	T	A	1: 6,240,315	N312K	probably damaging	Het
Sh3glb1	A	C	3: 144,691,898		probably null	Het
Siglec1	C	T	2: 131,074,093	C1283Y	probably damaging	Het
Spns1	T	C	7: 126,373,823	I204V	probably damaging	Het
Supt6	T	C	11: 78,225,458	Y693C	probably damaging	Het
Taar9	A	G	10: 24,109,254	V94A	probably damaging	Het
Tchp	T	C	5: 114,708,816	S55P	probably benign	Het
Tmem132b	A	G	5: 125,785,965	H678R	possibly damaging	Het
Tnr	G	C	1: 159,850,093	G16A	probably benign	Het
Top3b	T	C	16: 16,882,699		probably null	Het
Tpmt	A	G	13: 47,032,416		probably null	Het
Treh	G	A	9: 44,681,358	V87I	probably benign	Het
Ttc4	T	C	4: 106,678,766	D33G	probably benign	Het
Usp47	A	G	7: 112,104,050	D1171G	probably benign	Het
Vmn2r61	G	T	7: 42,300,668	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,452,571	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,413,046	A72G	probably benign	Het
Zscan4b	C	A	7: 10,902,023	V126F	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
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'- CATCCTGTGATTGCCGTAGC -3'
(R):5'- CCCTTATGTTGCAGATGAATGAGG -3'

Sequencing Primer
(F):5'- GCCGTAGCAATGGGTTCATAG -3'
(R):5'- GATAAAACCATCTCTTGTCACCTG -3'

Posted On

2022-03-25