Mutagenetix > Incidental Mutation

Incidental Mutation 'R2129:Palld'

227839

Institutional Source

Beutler Lab

Gene Symbol

Palld

Ensembl Gene

ENSMUSG00000058056

Gene Name

palladin, cytoskeletal associated protein

Synonyms

2410003B16Rik

MMRRC Submission

040132-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61964467-62355724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62330395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 161 (S161G)

Ref Sequence

ENSEMBL: ENSMUSP00000112442 (fasta)

Gene Model

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

AlphaFold

Q9ET54

Predicted Effect

probably benign
Transcript: ENSMUST00000034057
AA Change: S161G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: S161G

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: ENSMUST00000121785
AA Change: S161G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: S161G

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: ENSMUST00000133752

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abhd14a	A	T	9: 106,318,064 (GRCm39)	L125Q	probably null	Het
Abhd17b	T	A	19: 21,658,413 (GRCm39)		probably null	Het
Abo	G	A	2: 26,736,586 (GRCm39)	T61I	probably benign	Het
Adamts15	T	C	9: 30,815,799 (GRCm39)	T686A	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,383,410 (GRCm39)	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Bri3bp	T	A	5: 125,528,735 (GRCm39)	L48*	probably null	Het
Car7	T	A	8: 105,275,605 (GRCm39)	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chst10	A	G	1: 38,904,776 (GRCm39)	Y203H	probably benign	Het
Clca3a1	T	C	3: 144,722,526 (GRCm39)	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342 (GRCm39)	S190A	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Cygb	A	G	11: 116,540,668 (GRCm39)	L106P	probably damaging	Het
Dab2	G	T	15: 6,365,864 (GRCm39)	E87*	probably null	Het
Dcst1	T	A	3: 89,264,852 (GRCm39)	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,813,256 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,558,518 (GRCm39)	S168P	probably benign	Het
Dicer1	G	A	12: 104,688,290 (GRCm39)	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Dock2	T	C	11: 34,618,242 (GRCm39)	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289 (GRCm39)	S107P	possibly damaging	Het
Emb	T	C	13: 117,404,082 (GRCm39)	V278A	probably damaging	Het
Firrm	T	C	1: 163,794,026 (GRCm39)	Y518C	probably damaging	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Galm	T	C	17: 80,490,647 (GRCm39)	I268T	probably benign	Het
Gm5581	A	C	6: 131,145,247 (GRCm39)		noncoding transcript	Het
Gpr6	G	A	10: 40,947,168 (GRCm39)	S138L	possibly damaging	Het
Hesx1	C	A	14: 26,722,802 (GRCm39)	H42Q	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,570 (GRCm39)	D421G	probably damaging	Het
Kctd19	T	C	8: 106,111,804 (GRCm39)	T31A	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,674,863 (GRCm39)		probably benign	Het
Lin28a	T	A	4: 133,745,465 (GRCm39)	I43F	probably benign	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	A	G	4: 123,262,608 (GRCm39)		probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,030,140 (GRCm39)	L425P	probably damaging	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Mybpc1	T	G	10: 88,387,314 (GRCm39)	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,885 (GRCm39)	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,786,343 (GRCm39)	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,218,414 (GRCm39)	A250E	possibly damaging	Het
Nherf1	A	T	11: 115,067,270 (GRCm39)	I174F	probably damaging	Het
Nipsnap1	C	A	11: 4,838,932 (GRCm39)	N119K	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Or10ab4	T	A	7: 107,655,111 (GRCm39)	N307K	probably benign	Het
Or11h23	A	G	14: 50,948,093 (GRCm39)	Y102C	probably damaging	Het
Or2t48	T	C	11: 58,420,437 (GRCm39)	D125G	probably damaging	Het
Pald1	A	G	10: 61,184,085 (GRCm39)		probably null	Het
Paqr9	T	A	9: 95,443,122 (GRCm39)	F371I	probably benign	Het
Pear1	A	T	3: 87,665,666 (GRCm39)	C120*	probably null	Het
Pla2g4e	A	T	2: 120,013,292 (GRCm39)	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,516,902 (GRCm39)	Y61F	probably benign	Het
Polh	G	A	17: 46,499,014 (GRCm39)	Q234*	probably null	Het
Prkce	T	A	17: 86,803,463 (GRCm39)	M454K	possibly damaging	Het
Proser1	C	A	3: 53,385,366 (GRCm39)	T416K	probably benign	Het
Prr14l	G	T	5: 32,989,172 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rp1l1	T	A	14: 64,266,415 (GRCm39)	V667D	possibly damaging	Het
Rpp40	A	T	13: 36,082,604 (GRCm39)	C256*	probably null	Het
Rps6ka5	A	G	12: 100,644,797 (GRCm39)	L51P	probably damaging	Het
Rtp2	C	T	16: 23,746,457 (GRCm39)	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,508,715 (GRCm39)		probably benign	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc6a21	T	G	7: 44,932,197 (GRCm39)		probably null	Het
Smo	A	G	6: 29,757,313 (GRCm39)	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,560,621 (GRCm39)	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tasp1	T	C	2: 139,890,164 (GRCm39)	K71E	possibly damaging	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,764,911 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,793,105 (GRCm39)	N459D	probably benign	Het
Ube2k	A	G	5: 65,752,269 (GRCm39)	T151A	probably damaging	Het
Ubr1	T	C	2: 120,773,034 (GRCm39)	E402G	probably benign	Het
Ulk4	T	A	9: 120,981,248 (GRCm39)	I897F	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Wdr17	C	T	8: 55,085,416 (GRCm39)	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,290,918 (GRCm39)	K126E	possibly damaging	Het
Zeb1	A	T	18: 5,767,681 (GRCm39)	S731C	possibly damaging	Het

Other mutations in Palld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Palld	APN	8	61,968,969 (GRCm39)	missense	possibly damaging	0.77
IGL01083:Palld	APN	8	61,991,841 (GRCm39)	missense	probably benign	0.44
IGL01644:Palld	APN	8	62,330,512 (GRCm39)	missense	probably benign	0.28
IGL01672:Palld	APN	8	62,330,536 (GRCm39)	missense	probably benign	0.22
IGL01941:Palld	APN	8	61,988,734 (GRCm39)	missense	probably benign	0.44
IGL02037:Palld	APN	8	61,978,148 (GRCm39)	missense	probably damaging	1.00
IGL02126:Palld	APN	8	62,330,476 (GRCm39)	missense	possibly damaging	0.82
IGL02537:Palld	APN	8	62,137,968 (GRCm39)	missense	probably benign	0.05
IGL02632:Palld	APN	8	61,968,279 (GRCm39)	missense	probably damaging	1.00
IGL02809:Palld	APN	8	61,968,281 (GRCm39)	missense	probably damaging	1.00
IGL02901:Palld	APN	8	62,330,029 (GRCm39)	nonsense	probably null
IGL03400:Palld	APN	8	61,966,489 (GRCm39)	missense	probably damaging	1.00
R0098:Palld	UTSW	8	61,978,120 (GRCm39)	missense	probably damaging	1.00
R0098:Palld	UTSW	8	61,978,120 (GRCm39)	missense	probably damaging	1.00
R0745:Palld	UTSW	8	62,330,737 (GRCm39)	missense	probably damaging	1.00
R1263:Palld	UTSW	8	61,966,491 (GRCm39)	frame shift	probably null
R1342:Palld	UTSW	8	61,975,916 (GRCm39)	critical splice donor site	probably null
R1893:Palld	UTSW	8	61,969,655 (GRCm39)	missense	probably damaging	1.00
R2017:Palld	UTSW	8	62,137,799 (GRCm39)	missense	probably damaging	0.99
R2102:Palld	UTSW	8	61,986,467 (GRCm39)	missense	possibly damaging	0.82
R2246:Palld	UTSW	8	62,330,169 (GRCm39)	missense	probably benign	0.01
R3545:Palld	UTSW	8	62,003,112 (GRCm39)	missense	possibly damaging	0.95
R3815:Palld	UTSW	8	62,002,871 (GRCm39)	intron	probably benign
R3824:Palld	UTSW	8	62,162,067 (GRCm39)	missense	probably damaging	1.00
R4412:Palld	UTSW	8	62,140,406 (GRCm39)	missense	probably damaging	0.98
R4781:Palld	UTSW	8	62,330,062 (GRCm39)	missense	probably benign	0.01
R4836:Palld	UTSW	8	62,140,415 (GRCm39)	missense	probably benign	0.11
R4871:Palld	UTSW	8	62,002,815 (GRCm39)	intron	probably benign
R4963:Palld	UTSW	8	62,156,244 (GRCm39)	missense	probably damaging	1.00
R5036:Palld	UTSW	8	62,003,196 (GRCm39)	missense	probably damaging	1.00
R5128:Palld	UTSW	8	62,173,622 (GRCm39)	missense	probably damaging	1.00
R5343:Palld	UTSW	8	62,002,849 (GRCm39)	intron	probably benign
R5421:Palld	UTSW	8	61,969,584 (GRCm39)	missense	probably damaging	1.00
R5427:Palld	UTSW	8	62,003,106 (GRCm39)	missense	probably benign	0.01
R5561:Palld	UTSW	8	61,969,619 (GRCm39)	missense	probably damaging	1.00
R5651:Palld	UTSW	8	61,991,822 (GRCm39)	missense	probably damaging	1.00
R5679:Palld	UTSW	8	62,137,979 (GRCm39)	missense	possibly damaging	0.95
R5915:Palld	UTSW	8	61,986,386 (GRCm39)	critical splice donor site	probably null
R6153:Palld	UTSW	8	62,003,186 (GRCm39)	missense	probably damaging	1.00
R6276:Palld	UTSW	8	61,966,457 (GRCm39)	missense	probably damaging	1.00
R6323:Palld	UTSW	8	62,173,727 (GRCm39)	missense	probably damaging	1.00
R6659:Palld	UTSW	8	61,986,477 (GRCm39)	missense	probably benign	0.28
R7016:Palld	UTSW	8	61,969,032 (GRCm39)	missense	probably damaging	1.00
R7124:Palld	UTSW	8	61,969,679 (GRCm39)	missense	unknown
R7145:Palld	UTSW	8	61,985,051 (GRCm39)	missense	unknown
R7386:Palld	UTSW	8	61,985,086 (GRCm39)	missense	unknown
R7407:Palld	UTSW	8	61,968,975 (GRCm39)	nonsense	probably null
R7723:Palld	UTSW	8	62,164,492 (GRCm39)	missense	probably damaging	1.00
R8029:Palld	UTSW	8	62,330,346 (GRCm39)	missense	probably damaging	1.00
R8402:Palld	UTSW	8	62,164,440 (GRCm39)	missense	probably damaging	1.00
R8775:Palld	UTSW	8	62,138,006 (GRCm39)	missense	possibly damaging	0.73
R8775-TAIL:Palld	UTSW	8	62,138,006 (GRCm39)	missense	possibly damaging	0.73
R8887:Palld	UTSW	8	61,986,512 (GRCm39)	missense	unknown
R8906:Palld	UTSW	8	62,003,198 (GRCm39)	critical splice donor site	probably null
R8969:Palld	UTSW	8	62,137,883 (GRCm39)	missense	probably damaging	1.00
R8971:Palld	UTSW	8	61,969,735 (GRCm39)	missense	unknown
R8990:Palld	UTSW	8	61,968,279 (GRCm39)	missense	probably damaging	1.00
R9012:Palld	UTSW	8	62,173,697 (GRCm39)	missense	possibly damaging	0.85
R9145:Palld	UTSW	8	62,330,107 (GRCm39)	missense	probably benign	0.01
R9221:Palld	UTSW	8	61,969,591 (GRCm39)	missense	unknown
R9228:Palld	UTSW	8	62,173,571 (GRCm39)	missense	probably damaging	1.00
R9311:Palld	UTSW	8	61,978,189 (GRCm39)	missense	unknown
R9355:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9376:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9377:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9378:Palld	UTSW	8	61,969,691 (GRCm39)	missense	unknown
R9467:Palld	UTSW	8	61,968,264 (GRCm39)	missense	unknown
R9638:Palld	UTSW	8	62,002,788 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCATCTCCAGTTGATCTAGC -3'
(R):5'- ACCTGTCCAGCCTCTAACAG -3'

Sequencing Primer
(F):5'- CAGTTGATCTAGCTGGTCTGCAG -3'
(R):5'- GGAGATCAAGCTGAAAGGATCACTTC -3'

Posted On

2014-09-17