Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Palld'

683102

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 #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61511433-61902690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61516701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1196 (D1196E)

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: D954E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: D954E

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: D451E

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112374
Gene: ENSMUSG00000058056
AA Change: D451E

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: D790E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113874
Gene: ENSMUSG00000058056
AA Change: D790E

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: D1196E

SMART Domains

Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: D1196E

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: D240E

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119792
Gene: ENSMUSG00000058056
AA Change: D240E

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

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
9230112D13Rik	T	C	14: 34,514,426	H44R	unknown	Het
Acp6	C	T	3: 97,171,645	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,135,523	N97S	possibly damaging	Het
Afm	T	A	5: 90,548,816	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,653,793	D927E	probably benign	Het
Ap2a2	T	C	7: 141,611,345	V275A	probably benign	Het
Arfgef2	A	T	2: 166,859,301	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,997	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,391,946	A193V		Het
Bicra	T	A	7: 15,987,556	I679L	probably benign	Het
Ccm2l	G	A	2: 153,067,836	R36H	probably damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Cela3a	C	T	4: 137,405,911	G50D	probably benign	Het
Cep152	T	A	2: 125,579,850	R987*	probably null	Het
Cnnm2	T	C	19: 46,856,923	V618A	probably benign	Het
Crim1	G	A	17: 78,345,980	R593Q	possibly damaging	Het
Ctsc	A	G	7: 88,309,816	S435G	probably benign	Het
Dcbld1	G	T	10: 52,319,862	A460S	probably benign	Het
Dcbld2	A	G	16: 58,456,352	E502G	probably benign	Het
Dhx30	A	T	9: 110,084,445	L1207*	probably null	Het
Dlx2	A	T	2: 71,546,372	S7R	possibly damaging	Het
Dmwd	T	A	7: 19,081,048	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,864,508	L588V	possibly damaging	Het
Dmxl1	C	T	18: 49,893,674	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,709,321	L3339*	probably null	Het
Elovl1	C	A	4: 118,431,512	P160Q	probably damaging	Het
Epg5	T	A	18: 77,979,219	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,352,709	S53F	probably benign	Het
Fat1	T	A	8: 45,042,294	C4140S	probably damaging	Het
Gria2	C	T	3: 80,707,893	V427I	probably damaging	Het
H2al2a	C	A	2: 17,996,726	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,681,859	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,484,466		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,096,359	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,247,816	D553E	probably damaging	Het
Kif3a	T	A	11: 53,583,362	L251Q	probably damaging	Het
Klb	T	A	5: 65,375,683	I445K	probably damaging	Het
Klhl29	T	A	12: 5,140,710		probably null	Het
Lipf	A	G	19: 33,964,873	K68E	probably benign	Het
Lnx2	T	A	5: 147,033,426	I169L	probably benign	Het
Lrba	A	C	3: 86,615,081	I2223L	probably benign	Het
Lrp1	C	T	10: 127,556,027	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,435,628	T926A		Het
Lrrc37a	T	A	11: 103,500,664	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,739,846	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,141	V122A	probably damaging	Het
Lsm14b	T	C	2: 180,025,314		probably null	Het
Magel2	A	C	7: 62,380,251	I968L	unknown	Het
Mapkbp1	T	C	2: 120,019,569	V771A	probably benign	Het
Mtmr4	T	C	11: 87,602,800	S295P	probably benign	Het
Nanos3	T	A	8: 84,176,186	T116S	probably benign	Het
Nectin3	T	C	16: 46,448,902	D379G	probably benign	Het
Nelfa	T	C	5: 33,936,195	H14R	possibly damaging	Het
Nnt	A	G	13: 119,366,431	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575	M19L	probably benign	Het
Olfr1026	T	C	2: 85,923,984	S239P	probably damaging	Het
Olfr1220	T	A	2: 89,097,547	K127*	probably null	Het
Olfr153	T	A	2: 87,532,236	C68S	probably benign	Het
Olfr308	T	A	7: 86,321,161	I264F	possibly damaging	Het
Olfr656	A	T	7: 104,618,260	T194S	probably damaging	Het
Parl	A	G	16: 20,298,159	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,847,556	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,529,519	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,675,365	E712G	probably null	Het
Rasgrf2	T	C	13: 92,021,717	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,955,835	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,132,136		probably benign	Het
Rmnd5b	T	C	11: 51,624,495	S315G	probably benign	Het
Rp1l1	T	A	14: 64,021,996	V29E	probably damaging	Het
Sclt1	T	C	3: 41,727,106	T93A	probably benign	Het
Shroom1	T	A	11: 53,465,167	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,786	K545E	probably benign	Het
Slc20a2	C	T	8: 22,540,380	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,988,892	Y447C	probably damaging	Het
Slu7	C	A	11: 43,442,653	Q367K	probably benign	Het
Spen	T	C	4: 141,474,578	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,265,219	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,360,060	V530A		Het
Tnrc6c	T	C	11: 117,749,263	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 20,847,059	T170I	possibly damaging	Het
Vps29	A	G	5: 122,360,149	D51G	probably benign	Het
Washc2	T	C	6: 116,254,438	L874P	probably damaging	Het
Wdr5b	T	C	16: 36,041,556	L15P	probably benign	Het
Zscan20	T	A	4: 128,586,054	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,586,055	Q881P	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
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'- GCCCACTAACTTGTTTCAGCAG -3'
(R):5'- GCCATCATCACCTGGGAATG -3'

Sequencing Primer
(F):5'- ACTTGTTTCAGCAGTGAGAAAG -3'
(R):5'- GTATCTCTCAGTGCTCATGGGAAC -3'

Posted On

2021-10-11