Mutagenetix > Incidental Mutation

Incidental Mutation 'R9091:Pdlim7'

691019

Institutional Source

Beutler Lab

Gene Symbol

Pdlim7

Ensembl Gene

ENSMUSG00000021493

Gene Name

PDZ and LIM domain 7

Synonyms

2410002J21Rik, 1110003B01Rik, Enigma

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R9091 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55645300-55661281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55655354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 161 (T161K)

Ref Sequence

ENSEMBL: ENSMUSP00000047173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046246] [ENSMUST00000069929] [ENSMUST00000069968] [ENSMUST00000131306] [ENSMUST00000144288] [ENSMUST00000153426] [ENSMUST00000155098]

AlphaFold

Q3TJD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000046246
AA Change: T161K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: T161K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART
low complexity region	209	223	N/A	INTRINSIC
low complexity region	264	273	N/A	INTRINSIC
LIM	281	332	3.69e-18	SMART
LIM	340	391	8.29e-21	SMART
LIM	399	452	2.47e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069929
AA Change: T127K

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

SMART Domains

Protein: ENSMUSP00000064219
Gene: ENSMUSG00000021493
AA Change: T127K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069968
AA Change: T161K

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

SMART Domains

Protein: ENSMUSP00000070153
Gene: ENSMUSG00000021493
AA Change: T161K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131306

SMART Domains

Protein: ENSMUSP00000119753
Gene: ENSMUSG00000021493

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144288

SMART Domains

Protein: ENSMUSP00000121614
Gene: ENSMUSG00000021493

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153426

SMART Domains

Protein: ENSMUSP00000118867
Gene: ENSMUSG00000021493

Domain	Start	End	E-Value	Type
Pfam:PDZ	3	58	1.4e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155098
AA Change: T161K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: T161K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART
low complexity region	209	223	N/A	INTRINSIC
low complexity region	264	273	N/A	INTRINSIC
LIM	281	332	3.69e-18	SMART
LIM	340	391	8.29e-21	SMART
LIM	399	452	2.47e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit heart defects and hemostatic dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,781 (GRCm39)	E104D	probably damaging	Het
Arih2	A	T	9: 108,493,890 (GRCm39)	D174E	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Baiap2l2	A	G	15: 79,168,205 (GRCm39)		probably null	Het
Btla	T	C	16: 45,064,656 (GRCm39)	F203L	possibly damaging	Het
C1rb	A	T	6: 124,551,947 (GRCm39)	D283V	probably damaging	Het
C87436	C	G	6: 86,442,813 (GRCm39)	Q462E	probably benign	Het
Ccdc149	T	C	5: 52,563,352 (GRCm39)	D147G	possibly damaging	Het
Chd6	A	T	2: 160,871,793 (GRCm39)	L214*	probably null	Het
Chrna4	C	A	2: 180,670,643 (GRCm39)	R371L	possibly damaging	Het
Cit	C	A	5: 115,984,161 (GRCm39)		probably benign	Het
Cpne5	A	G	17: 29,444,163 (GRCm39)		probably null	Het
Cr1l	T	C	1: 194,789,204 (GRCm39)	E400G	possibly damaging	Het
Creb3l2	T	C	6: 37,332,583 (GRCm39)	N304D	probably damaging	Het
Cyp17a1	T	C	19: 46,656,030 (GRCm39)	T420A	probably benign	Het
Cyp24a1	A	G	2: 170,327,853 (GRCm39)	I463T	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,973 (GRCm39)	I84N	probably damaging	Het
Dnajc6	G	A	4: 101,496,559 (GRCm39)	V909M	possibly damaging	Het
Dtl	A	G	1: 191,288,923 (GRCm39)	Y264H	probably damaging	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Egf	A	G	3: 129,529,449 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,701,231 (GRCm39)	S402P	probably benign	Het
Fcho2	A	T	13: 98,925,869 (GRCm39)		probably null	Het
Fhdc1	G	A	3: 84,352,290 (GRCm39)	R197C	unknown	Het
Foxa2	T	A	2: 147,886,426 (GRCm39)	M136L	probably benign	Het
Gm10226	T	C	17: 21,910,866 (GRCm39)	C34R	possibly damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8947	T	C	1: 151,068,853 (GRCm39)	S229P	probably benign	Het
Ighv9-2	A	T	12: 114,072,896 (GRCm39)	S26T	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,420,190 (GRCm39)	I745M	probably damaging	Het
Klhdc1	T	C	12: 69,309,968 (GRCm39)	L290P	probably damaging	Het
Lcp2	C	T	11: 34,039,688 (GRCm39)	T496I		Het
Map4k4	T	C	1: 40,042,923 (GRCm39)	W593R	probably benign	Het
Mefv	T	G	16: 3,535,841 (GRCm39)	Q29P	probably damaging	Het
Mgat5b	T	C	11: 116,859,269 (GRCm39)	Y34H		Het
Mlip	C	T	9: 77,137,080 (GRCm39)	R609Q	probably benign	Het
Muc2	A	G	7: 141,290,816 (GRCm39)	D34G		Het
Nbeal1	C	T	1: 60,307,548 (GRCm39)	P1687S	possibly damaging	Het
Notch1	T	A	2: 26,369,895 (GRCm39)	I477L	probably damaging	Het
Odad2	T	A	18: 7,217,846 (GRCm39)	K623*	probably null	Het
Or1l4b	G	A	2: 37,037,047 (GRCm39)	M274I	probably benign	Het
Or1s2	T	C	19: 13,758,333 (GRCm39)	V117A	probably benign	Het
Or4a2	A	T	2: 89,248,712 (GRCm39)	L15Q	probably damaging	Het
Or51v8	T	A	7: 103,320,124 (GRCm39)	N38I	probably damaging	Het
Or6c214	A	G	10: 129,591,148 (GRCm39)	M57T	probably damaging	Het
Pak5	A	T	2: 135,958,688 (GRCm39)	S133R	probably damaging	Het
Pcyt1a	C	A	16: 32,285,332 (GRCm39)	D187E	probably benign	Het
Phf8-ps	A	C	17: 33,286,701 (GRCm39)	C34G	probably damaging	Het
Pik3r4	A	G	9: 105,547,108 (GRCm39)	K962R	probably benign	Het
Pkd1l2	T	C	8: 117,759,433 (GRCm39)	K1516E	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ptchd3	A	T	11: 121,733,180 (GRCm39)	Y690F	probably benign	Het
Ptpn13	A	T	5: 103,649,735 (GRCm39)	R379S	possibly damaging	Het
Rbm27	C	T	18: 42,438,829 (GRCm39)	A410V	probably benign	Het
Rnase4	A	G	14: 51,342,662 (GRCm39)	T129A	probably benign	Het
Serpinb11	C	T	1: 107,304,533 (GRCm39)	T166I	probably benign	Het
Shank2	A	G	7: 143,963,705 (GRCm39)	T438A	possibly damaging	Het
Slc13a2	T	C	11: 78,295,258 (GRCm39)	N172D	probably damaging	Het
Slc2a8	A	G	2: 32,864,864 (GRCm39)	F428L	probably damaging	Het
Slc38a6	T	C	12: 73,398,544 (GRCm39)	M358T	probably benign	Het
Snx29	A	G	16: 11,213,155 (GRCm39)	H107R	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Spint3	G	A	2: 164,415,154 (GRCm39)	A21V	probably benign	Het
Susd1	A	T	4: 59,412,226 (GRCm39)	V162E	probably benign	Het
Syne2	T	G	12: 75,977,834 (GRCm39)	N1426K	probably damaging	Het
Synj2	T	C	17: 6,067,875 (GRCm39)	V638A	possibly damaging	Het
Thada	A	T	17: 84,538,589 (GRCm39)	L1473Q	probably damaging	Het
Trim36	G	A	18: 46,300,580 (GRCm39)	S697L	possibly damaging	Het
Ttbk1	A	T	17: 46,781,517 (GRCm39)	I412N	possibly damaging	Het
Tubb2a	T	C	13: 34,258,578 (GRCm39)	D404G	probably damaging	Het
Tyk2	T	A	9: 21,035,841 (GRCm39)	N114Y	probably damaging	Het
Umodl1	A	G	17: 31,185,678 (GRCm39)	D139G	probably damaging	Het
Vmn2r101	T	A	17: 19,810,244 (GRCm39)	N343K	probably benign	Het
Vnn1	A	G	10: 23,780,464 (GRCm39)	D484G	probably damaging	Het
Vps13b	A	G	15: 35,770,919 (GRCm39)	T2121A	probably benign	Het
Wdr81	T	C	11: 75,345,216 (GRCm39)	E17G	probably benign	Het
Wnk2	T	G	13: 49,224,505 (GRCm39)	K1117Q	probably benign	Het
Zbtb46	C	T	2: 181,066,138 (GRCm39)	R4Q	probably benign	Het
Zfp608	T	A	18: 55,032,190 (GRCm39)	K583N	probably damaging	Het
Zfp729b	A	T	13: 67,740,480 (GRCm39)	L595H	probably damaging	Het

Other mutations in Pdlim7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0737:Pdlim7	UTSW	13	55,652,693 (GRCm39)	splice site	probably null
R1518:Pdlim7	UTSW	13	55,656,107 (GRCm39)	nonsense	probably null
R1857:Pdlim7	UTSW	13	55,653,858 (GRCm39)	missense	probably damaging	1.00
R1886:Pdlim7	UTSW	13	55,653,981 (GRCm39)	missense	probably benign	0.34
R1887:Pdlim7	UTSW	13	55,653,981 (GRCm39)	missense	probably benign	0.34
R5139:Pdlim7	UTSW	13	55,654,869 (GRCm39)	missense	probably damaging	1.00
R5367:Pdlim7	UTSW	13	55,653,975 (GRCm39)	missense	probably benign	0.01
R5866:Pdlim7	UTSW	13	55,646,501 (GRCm39)	missense	probably damaging	1.00
R5922:Pdlim7	UTSW	13	55,656,768 (GRCm39)	missense	probably damaging	1.00
R6328:Pdlim7	UTSW	13	55,655,905 (GRCm39)	intron	probably benign
R6787:Pdlim7	UTSW	13	55,656,810 (GRCm39)	missense	probably damaging	1.00
R6980:Pdlim7	UTSW	13	55,656,041 (GRCm39)	missense	probably benign	0.35
R7690:Pdlim7	UTSW	13	55,656,744 (GRCm39)	missense	probably damaging	1.00
R7911:Pdlim7	UTSW	13	55,646,919 (GRCm39)	missense	probably damaging	1.00
R9270:Pdlim7	UTSW	13	55,655,354 (GRCm39)	missense	probably damaging	0.99
X0010:Pdlim7	UTSW	13	55,656,797 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TCTTGCACTGAGAGGACAGAG -3'
(R):5'- TTCCTTCACAGGTGCAGACC -3'

Sequencing Primer
(F):5'- CAGAGGCAGGCATTGACC -3'
(R):5'- TGCAGACCTCTGACAAGTTAGTG -3'

Posted On

2021-12-30