Mutagenetix > Incidental Mutation

Incidental Mutation 'R9673:Pdlim3'

728158

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R9673 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46338498-46372585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46368195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 183 (S183L)

Ref Sequence

ENSEMBL: ENSMUSP00000034053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034053] [ENSMUST00000210422]

AlphaFold

O70209

PDB Structure

Solution structure of PDZ domain of mouse Alpha-actinin-2 associated LIM protein [SOLUTION NMR]
Solution structure of the LIM domain of alpha-actinin-2 associated LIM protein [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034053
AA Change: S183L

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: S183L

Domain	Start	End	E-Value	Type
PDZ	11	84	3.86e-16	SMART
ZM	137	162	5.55e-11	SMART
LIM	245	296	3.73e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210422
AA Change: S231L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,399 (GRCm39)	K318E	probably benign	Het
Ap5z1	T	C	5: 142,463,113 (GRCm39)	F766L	probably benign	Het
Atrnl1	A	G	19: 57,599,786 (GRCm39)	M1V	probably null	Het
Atxn1	T	C	13: 45,710,622 (GRCm39)	E770G	probably benign	Het
Brwd1	T	G	16: 95,813,096 (GRCm39)	I1471L	probably benign	Het
Bud23	T	C	5: 135,082,571 (GRCm39)	E66G	probably benign	Het
Cdh8	T	A	8: 99,757,367 (GRCm39)	I744L	possibly damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep95	C	A	11: 106,703,322 (GRCm39)	H467Q	probably benign	Het
Chd1	A	G	17: 15,989,023 (GRCm39)	Y1592C	probably benign	Het
Chkb	C	G	15: 89,313,628 (GRCm39)	G59A	probably damaging	Het
Copa	A	G	1: 171,945,648 (GRCm39)	S915G	probably benign	Het
Creb3	G	T	4: 43,563,191 (GRCm39)	V97F	probably damaging	Het
Csmd2	T	A	4: 128,308,062 (GRCm39)	H1273Q		Het
Cxcr1	T	C	1: 74,231,074 (GRCm39)	N316S	probably benign	Het
Cyct	A	T	2: 76,184,523 (GRCm39)	I76N	probably damaging	Het
Dmxl2	G	T	9: 54,294,840 (GRCm39)	R2412S	probably damaging	Het
Dnah11	A	G	12: 117,982,513 (GRCm39)	M2552T	possibly damaging	Het
Dnph1	G	A	17: 46,809,901 (GRCm39)	E148K	possibly damaging	Het
Ecpas	T	C	4: 58,822,060 (GRCm39)	N1169S	probably benign	Het
Esp16	T	A	17: 39,848,731 (GRCm39)	Y8*	probably null	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam76a	C	A	4: 132,628,557 (GRCm39)	K300N	probably damaging	Het
Fcgbpl1	A	G	7: 27,856,044 (GRCm39)	T1944A	probably benign	Het
Frrs1l	A	C	4: 56,990,191 (GRCm39)	D27E		Het
G6pc1	T	C	11: 101,267,380 (GRCm39)	S277P	probably damaging	Het
Gabrg3	T	A	7: 56,973,422 (GRCm39)	I82F	probably damaging	Het
Gm3604	G	T	13: 62,517,969 (GRCm39)	Q130K	probably benign	Het
Hhip	T	A	8: 80,719,108 (GRCm39)	D473V	probably damaging	Het
Ifi209	T	C	1: 173,470,332 (GRCm39)	S307P	probably damaging	Het
Ino80c	C	T	18: 24,254,856 (GRCm39)	M1I	probably null	Het
Jag2	G	T	12: 112,875,416 (GRCm39)	C872*	probably null	Het
Kcnma1	A	C	14: 23,558,123 (GRCm39)	H474Q	probably benign	Het
Krr1	G	A	10: 111,818,963 (GRCm39)		probably null	Het
Lats1	T	G	10: 7,588,387 (GRCm39)	D1001E	probably benign	Het
Lilrb4b	T	C	10: 51,357,753 (GRCm39)	L149P	probably benign	Het
Lrrk2	T	A	15: 91,649,884 (GRCm39)	S1674T	probably damaging	Het
Magi2	A	G	5: 20,670,582 (GRCm39)	I309V	possibly damaging	Het
Mtmr4	T	C	11: 87,504,916 (GRCm39)	V1137A	probably damaging	Het
Mtmr4	A	G	11: 87,503,138 (GRCm39)	D1064G	probably damaging	Het
Neb	C	T	2: 52,133,853 (GRCm39)		probably null	Het
Nhsl1	T	A	10: 18,402,665 (GRCm39)	V1297E	possibly damaging	Het
Nlrp3	T	A	11: 59,440,148 (GRCm39)	V575D	probably damaging	Het
Nptx2	T	C	5: 144,492,159 (GRCm39)	I312T	possibly damaging	Het
Osm	A	G	11: 4,189,926 (GRCm39)	T237A	probably benign	Het
Pcdha12	T	C	18: 37,155,234 (GRCm39)	V651A	possibly damaging	Het
Pclo	A	G	5: 14,908,758 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,273,671 (GRCm39)	M552K	probably damaging	Het
Pkhd1l1	T	C	15: 44,386,901 (GRCm39)	L1258S	probably benign	Het
Proser3	T	G	7: 30,248,530 (GRCm39)	T55P	probably damaging	Het
Ranbp2	C	A	10: 58,300,963 (GRCm39)	P611Q	probably damaging	Het
Rangap1	T	C	15: 81,590,637 (GRCm39)	D485G	probably benign	Het
Rp1	G	A	1: 4,337,792 (GRCm39)	T421I	unknown	Het
Ryr3	G	A	2: 112,486,883 (GRCm39)	L3862F	possibly damaging	Het
Sbf1	C	T	15: 89,179,675 (GRCm39)	G1337R	possibly damaging	Het
Setd2	A	G	9: 110,378,138 (GRCm39)	E651G	probably damaging	Het
Shmt1	A	G	11: 60,692,769 (GRCm39)	W105R	probably damaging	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc22a29	T	C	19: 8,140,104 (GRCm39)	I434V	probably benign	Het
Sord	C	T	2: 122,090,712 (GRCm39)	T221I	probably benign	Het
Speer1g	T	A	5: 11,178,990 (GRCm39)	N55K	probably benign	Het
Tbcd	T	C	11: 121,464,647 (GRCm39)	Y561H	probably damaging	Het
Tcaf1	G	A	6: 42,663,808 (GRCm39)	S24F	probably benign	Het
Tenm4	A	T	7: 96,517,196 (GRCm39)	D1429V	probably damaging	Het
Tesk1	A	G	4: 43,444,574 (GRCm39)	Y126C	probably damaging	Het
Tmem176a	G	A	6: 48,820,952 (GRCm39)	V141I	probably benign	Het
Tmem204	A	T	17: 25,299,243 (GRCm39)	V92D	probably damaging	Het
Ttn	T	A	2: 76,572,605 (GRCm39)	D26096V	probably damaging	Het
Vmn1r70	T	A	7: 10,368,364 (GRCm39)	L284Q	probably damaging	Het
Vmn2r77	T	C	7: 86,450,171 (GRCm39)	V139A	possibly damaging	Het
Wdpcp	A	G	11: 21,671,285 (GRCm39)	R509G	possibly damaging	Het
Wee1	C	T	7: 109,725,210 (GRCm39)	T284I	probably damaging	Het
Wfs1	A	G	5: 37,125,113 (GRCm39)	S593P	probably damaging	Het
Zbtb11	A	G	16: 55,827,336 (GRCm39)	H934R	probably damaging	Het
Zfp277	A	T	12: 40,370,611 (GRCm39)	V446E	probably benign	Het
Zfp874a	C	A	13: 67,591,156 (GRCm39)	R176L	probably benign	Het
Znrf2	A	T	6: 54,840,978 (GRCm39)	N184I	probably damaging	Het
Zp2	T	A	7: 119,733,238 (GRCm39)	T568S	probably damaging	Het

Other mutations in Pdlim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Pdlim3	APN	8	46,349,827 (GRCm39)	missense	probably damaging	1.00
IGL01341:Pdlim3	APN	8	46,368,277 (GRCm39)	missense	probably benign
IGL02189:Pdlim3	APN	8	46,338,630 (GRCm39)	missense	probably damaging	1.00
IGL02834:Pdlim3	APN	8	46,370,569 (GRCm39)	missense	probably benign	0.02
IGL03165:Pdlim3	APN	8	46,372,035 (GRCm39)	missense	possibly damaging	0.82
C9142:Pdlim3	UTSW	8	46,349,869 (GRCm39)	missense	probably benign	0.37
R0244:Pdlim3	UTSW	8	46,361,497 (GRCm39)	intron	probably benign
R0369:Pdlim3	UTSW	8	46,370,543 (GRCm39)	missense	probably benign
R1052:Pdlim3	UTSW	8	46,349,837 (GRCm39)	missense	probably damaging	1.00
R1142:Pdlim3	UTSW	8	46,371,998 (GRCm39)	missense	probably damaging	1.00
R1531:Pdlim3	UTSW	8	46,349,800 (GRCm39)	missense	probably damaging	1.00
R1607:Pdlim3	UTSW	8	46,349,896 (GRCm39)	missense	probably damaging	1.00
R1645:Pdlim3	UTSW	8	46,349,785 (GRCm39)	missense	probably benign	0.37
R5641:Pdlim3	UTSW	8	46,368,300 (GRCm39)	splice site	probably null
R5731:Pdlim3	UTSW	8	46,368,284 (GRCm39)	missense	probably benign
R6501:Pdlim3	UTSW	8	46,361,639 (GRCm39)	missense	possibly damaging	0.95
R7111:Pdlim3	UTSW	8	46,370,539 (GRCm39)	missense	probably damaging	0.99
R7637:Pdlim3	UTSW	8	46,362,102 (GRCm39)	missense	probably damaging	1.00
R7701:Pdlim3	UTSW	8	46,361,576 (GRCm39)	missense	probably benign	0.17
R8223:Pdlim3	UTSW	8	46,353,562 (GRCm39)	missense	possibly damaging	0.80
R8380:Pdlim3	UTSW	8	46,370,572 (GRCm39)	missense	probably benign
R9163:Pdlim3	UTSW	8	46,338,711 (GRCm39)	critical splice donor site	probably null
Z1177:Pdlim3	UTSW	8	46,372,021 (GRCm39)	nonsense	probably null
Z1177:Pdlim3	UTSW	8	46,362,117 (GRCm39)	missense	possibly damaging	0.77
Z1177:Pdlim3	UTSW	8	46,362,116 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TCCTGGCAGATTTCACCTAGG -3'
(R):5'- GGCCCCTGACTACTATGGATAG -3'

Sequencing Primer
(F):5'- ACCTAGGTGAATTCAAATGGTATTTC -3'
(R):5'- CCCCTGACTACTATGGATAGAATTTG -3'

Posted On

2022-10-06