Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Frmpd4'

57309

Institutional Source

Beutler Lab

Gene Symbol

Frmpd4

Ensembl Gene

ENSMUSG00000049176

Gene Name

FERM and PDZ domain containing 4

Synonyms

LOC237234, PKAP1, Preso1, Pdzd10, Pdzk10, Preso

MMRRC Submission

038832-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166254305-167360227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 166272006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 483 (E483K)

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: E475K

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

SMART Domains

Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: E475K

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: E443K

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

SMART Domains

Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: E443K

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: E475K

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

SMART Domains

Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: E475K

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: E483K

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

SMART Domains

Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: E483K

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

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	C	A	11: 50,494,265 (GRCm39)	T113K	probably damaging	Het
Adgre1	T	A	17: 57,718,003 (GRCm39)	N338K	probably damaging	Het
Aggf1	A	T	13: 95,508,164 (GRCm39)		probably null	Het
Apc2	A	T	10: 80,140,762 (GRCm39)	I206F	probably damaging	Het
Carmil3	T	C	14: 55,739,892 (GRCm39)		probably null	Het
Ccdc110	A	C	8: 46,396,425 (GRCm39)	E772A	probably damaging	Het
Cdh23	A	G	10: 60,143,681 (GRCm39)	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,159,153 (GRCm39)	Y2207*	probably null	Het
Cfap20dc	T	A	14: 8,536,655 (GRCm38)	D184V	possibly damaging	Het
Chd4	T	A	6: 125,086,086 (GRCm39)	N908K	probably damaging	Het
Chst9	A	G	18: 15,585,726 (GRCm39)	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,656,203 (GRCm39)	N261I	probably benign	Het
Dlgap2	A	T	8: 14,777,591 (GRCm39)	S279C	possibly damaging	Het
Dock4	G	A	12: 40,760,883 (GRCm39)	E524K	probably damaging	Het
Fabp12	T	A	3: 10,311,096 (GRCm39)	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,741,932 (GRCm39)	T100A	probably benign	Het
Fbxl5	T	C	5: 43,925,411 (GRCm39)	D176G	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477 (GRCm39)	N95S	possibly damaging	Het
Frem3	A	G	8: 81,341,814 (GRCm39)	E1369G	probably damaging	Het
Gbp11	T	C	5: 105,478,830 (GRCm39)	K203E	possibly damaging	Het
Hs3st6	C	T	17: 24,977,134 (GRCm39)	R205C	probably damaging	Het
Ifitm10	C	T	7: 141,909,772 (GRCm39)	S179N	probably damaging	Het
Irx2	A	C	13: 72,778,799 (GRCm39)	N121T	probably damaging	Het
Itih1	A	T	14: 30,657,820 (GRCm39)	V417E	probably damaging	Het
Itpr1	A	C	6: 108,360,659 (GRCm39)	E695A	probably damaging	Het
Kif1c	T	A	11: 70,616,967 (GRCm39)	I755K	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Lrp1	G	C	10: 127,407,346 (GRCm39)	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,628,473 (GRCm39)	I273K	possibly damaging	Het
Ly9	T	C	1: 171,427,376 (GRCm39)	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,911,862 (GRCm39)	V295A	probably benign	Het
Nlrp5	T	A	7: 23,117,132 (GRCm39)	D269E	probably damaging	Het
Or1r1	G	A	11: 73,874,597 (GRCm39)	A279V	probably damaging	Het
Or2t6	T	G	14: 14,175,858 (GRCm38)	T75P	probably benign	Het
Or4k44	A	G	2: 111,367,704 (GRCm39)	V310A	probably benign	Het
Or52u1	T	G	7: 104,237,322 (GRCm39)	F104V	probably damaging	Het
Or5p50	T	A	7: 107,422,218 (GRCm39)	I153F	probably benign	Het
Otud3	A	G	4: 138,640,948 (GRCm39)	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,685,213 (GRCm39)	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,646,913 (GRCm39)	V14A	probably damaging	Het
Prss3l	A	T	6: 41,420,275 (GRCm39)	F150L	probably benign	Het
Rbfox1	A	T	16: 7,042,248 (GRCm39)	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,084,650 (GRCm39)	D665G	probably benign	Het
Rc3h2	C	T	2: 37,299,542 (GRCm39)	V163M	probably damaging	Het
Sash1	T	A	10: 8,605,316 (GRCm39)	R1025W	probably damaging	Het
Sgpl1	A	G	10: 60,949,267 (GRCm39)	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,429,836 (GRCm39)	D615N	probably benign	Het
Smap1	A	G	1: 23,892,559 (GRCm39)	I135T	probably damaging	Het
Snapc3	A	G	4: 83,368,466 (GRCm39)	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,479,460 (GRCm39)	R6C	probably damaging	Het
Syne2	C	T	12: 75,934,977 (GRCm39)	P153L	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,621 (GRCm39)	N1160S	probably damaging	Het
Trim65	G	A	11: 116,019,036 (GRCm39)	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,406,732 (GRCm39)	I241N	probably damaging	Het
Txndc16	T	A	14: 45,402,818 (GRCm39)	R101*	probably null	Het
Ugt2b38	A	G	5: 87,571,328 (GRCm39)	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,635 (GRCm39)	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,903,169 (GRCm39)	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Wdfy4	A	G	14: 32,831,656 (GRCm39)	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,931,994 (GRCm39)	K31T	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
IGL02476:Frmpd4	APN	X	166,280,851 (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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTGGTGGAAACACATTCTCCC -3'
(R):5'- GTCATTCTCTTTCCTCAGCAGGCAG -3'

Sequencing Primer
(F):5'- cagaagggactgagaaatgatataac -3'
(R):5'- TTTCCTCAGCAGGCAGAGAAG -3'

Posted On

2013-07-11