Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02476:Frmpd4'

294965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmpd4

Ensembl Gene

ENSMUSG00000049176

Gene Name

FERM and PDZ domain containing 4

Synonyms

LOC237234, PKAP1, Preso1, Pdzd10, Pdzk10, Preso

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02476

Quality Score

Status

Chromosome

Chromosomal Location

166254305-167360227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166280851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

Ref Sequence

ENSEMBL: ENSMUSP00000107777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112145] [ENSMUST00000112146] [ENSMUST00000112147] [ENSMUST00000112149]

AlphaFold

A2AFR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000112145
AA Change: V335A

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

SMART Domains

Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: V335A

Domain	Start	End	E-Value	Type
PDZ	77	147	1.38e-12	SMART
B41	194	416	1.86e-49	SMART
low complexity region	734	745	N/A	INTRINSIC
low complexity region	762	775	N/A	INTRINSIC
Blast:B41	794	864	9e-6	BLAST
low complexity region	865	874	N/A	INTRINSIC
low complexity region	892	905	N/A	INTRINSIC
low complexity region	1210	1224	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112146
AA Change: V303A

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

SMART Domains

Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: V303A

Domain	Start	End	E-Value	Type
PDZ	45	115	1.38e-12	SMART
B41	162	384	1.86e-49	SMART
low complexity region	702	713	N/A	INTRINSIC
low complexity region	730	743	N/A	INTRINSIC
Blast:B41	762	832	1e-5	BLAST
low complexity region	833	842	N/A	INTRINSIC
low complexity region	860	873	N/A	INTRINSIC
low complexity region	1178	1192	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112147
AA Change: V335A

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

SMART Domains

Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: V335A

Domain	Start	End	E-Value	Type
PDZ	77	147	1.38e-12	SMART
B41	194	416	1.86e-49	SMART
low complexity region	734	745	N/A	INTRINSIC
low complexity region	762	775	N/A	INTRINSIC
Blast:B41	794	864	9e-6	BLAST
low complexity region	865	874	N/A	INTRINSIC
low complexity region	892	905	N/A	INTRINSIC
low complexity region	1210	1224	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112149
AA Change: V343A

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

SMART Domains

Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: V343A

Domain	Start	End	E-Value	Type
PDZ	85	155	1.38e-12	SMART
B41	202	424	1.86e-49	SMART
low complexity region	742	753	N/A	INTRINSIC
low complexity region	770	783	N/A	INTRINSIC
Blast:B41	802	872	1e-5	BLAST
low complexity region	873	882	N/A	INTRINSIC
low complexity region	900	913	N/A	INTRINSIC
low complexity region	1218	1232	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased inflammation-induced pain and thermal pain in a chronic pain model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	A	1: 74,320,683 (GRCm39)		probably benign	Het
Birc6	A	G	17: 75,003,386 (GRCm39)	E4752G	possibly damaging	Het
Chd1	C	T	17: 15,954,535 (GRCm39)	P468S	probably damaging	Het
Cnot3	A	G	7: 3,661,067 (GRCm39)	D556G	probably benign	Het
Csnk1d	A	G	11: 120,863,338 (GRCm39)	Y201H	probably damaging	Het
Dhtkd1	A	G	2: 5,935,717 (GRCm39)	S132P	possibly damaging	Het
Dhx58	G	T	11: 100,593,090 (GRCm39)	Q206K	probably benign	Het
Dio1	C	A	4: 107,149,574 (GRCm39)	V195F	probably damaging	Het
Dio3	T	C	12: 110,245,916 (GRCm39)	V84A	probably benign	Het
Dnai4	T	A	4: 102,944,545 (GRCm39)	I3L	possibly damaging	Het
Extl3	T	C	14: 65,314,693 (GRCm39)	K163R	probably benign	Het
Fat2	A	T	11: 55,201,950 (GRCm39)	S375T	probably damaging	Het
Fbrs	A	G	7: 127,086,841 (GRCm39)	D73G	probably damaging	Het
Fnip1	A	G	11: 54,390,393 (GRCm39)		probably benign	Het
Gcc1	T	C	6: 28,420,468 (GRCm39)	D283G	probably benign	Het
Ghr	T	C	15: 3,349,528 (GRCm39)	D550G	probably damaging	Het
Glycam1	G	A	15: 103,471,307 (GRCm39)		probably benign	Het
Gpatch8	A	G	11: 102,369,417 (GRCm39)	S1374P	probably damaging	Het
Grm1	A	T	10: 10,565,197 (GRCm39)	M1037K	probably benign	Het
Gtpbp3	T	C	8: 71,945,242 (GRCm39)	L438P	probably damaging	Het
Ifi205	G	T	1: 173,842,627 (GRCm39)	N356K	probably damaging	Het
Ifi206	A	G	1: 173,309,132 (GRCm39)	L288P	probably benign	Het
Ift57	T	C	16: 49,584,252 (GRCm39)	V291A	probably benign	Het
Kif13a	A	C	13: 46,938,772 (GRCm39)	C166G	probably damaging	Het
Lypd6	A	G	2: 50,080,740 (GRCm39)	T143A	possibly damaging	Het
Mtus2	G	A	5: 148,014,748 (GRCm39)	A514T	probably benign	Het
Neu2	T	C	1: 87,524,674 (GRCm39)	W220R	probably damaging	Het
Notch3	T	C	17: 32,377,612 (GRCm39)	S155G	possibly damaging	Het
Nrxn2	A	G	19: 6,505,015 (GRCm39)	E286G	probably damaging	Het
Onecut3	A	G	10: 80,349,724 (GRCm39)	E406G	probably benign	Het
Oog2	T	A	4: 143,921,799 (GRCm39)	D236E	probably benign	Het
Pck1	A	G	2: 173,000,075 (GRCm39)	H502R	probably benign	Het
Pld1	A	G	3: 28,102,188 (GRCm39)	Y313C	probably damaging	Het
Rhox3f	A	T	X: 36,763,192 (GRCm39)		probably benign	Het
Rpl34	A	G	3: 130,520,613 (GRCm39)		probably benign	Het
Sema4c	T	C	1: 36,595,031 (GRCm39)	K31E	probably damaging	Het
Septin11	T	C	5: 93,296,443 (GRCm39)		probably null	Het
Slc4a9	T	A	18: 36,668,498 (GRCm39)		probably null	Het
Snrnp200	T	A	2: 127,059,408 (GRCm39)	S434T	probably benign	Het
Snx13	A	T	12: 35,136,940 (GRCm39)	I134F	probably damaging	Het
Syt2	T	C	1: 134,675,369 (GRCm39)	S407P	probably benign	Het
Tbc1d19	T	C	5: 54,046,755 (GRCm39)		probably null	Het
Tbc1d32	G	T	10: 56,074,638 (GRCm39)	Q192K	possibly damaging	Het
Ubr4	T	A	4: 139,148,560 (GRCm39)	C1681*	probably null	Het
Vmn1r43	T	A	6: 89,847,043 (GRCm39)	I148F	possibly damaging	Het
Vwa8	T	C	14: 79,162,781 (GRCm39)	V187A	possibly damaging	Het

Other mutations in Frmpd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Frmpd4	APN	X	166,275,931 (GRCm39)	missense	probably damaging	1.00
IGL03142:Frmpd4	APN	X	166,262,479 (GRCm39)	missense	possibly damaging	0.86
IGL03292:Frmpd4	APN	X	166,260,586 (GRCm39)	missense	probably benign
PIT4283001:Frmpd4	UTSW	X	166,512,030 (GRCm39)	missense	possibly damaging	0.95
R0647:Frmpd4	UTSW	X	166,272,006 (GRCm39)	missense	probably damaging	1.00
R1520:Frmpd4	UTSW	X	166,275,949 (GRCm39)	missense	probably damaging	1.00
R2869:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2869:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2871:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2871:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2872:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2872:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R2874:Frmpd4	UTSW	X	166,260,243 (GRCm39)	missense	probably benign	0.24
R3729:Frmpd4	UTSW	X	166,269,803 (GRCm39)	missense	probably damaging	0.96
R3731:Frmpd4	UTSW	X	166,269,803 (GRCm39)	missense	probably damaging	0.96
R6943:Frmpd4	UTSW	X	166,387,579 (GRCm39)	missense	probably damaging	1.00
Z1088:Frmpd4	UTSW	X	166,280,836 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16