Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Frmpd4'

253501

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

040457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2869 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

166254305-167360227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166260243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1166 (D1166E)

Ref Sequence

ENSEMBL: ENSMUSP00000107777 (fasta)

Gene Model

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

AlphaFold

A2AFR3

Predicted Effect

probably benign
Transcript: ENSMUST00000112145
AA Change: D1158E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: D1158E

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 benign
Transcript: ENSMUST00000112146
AA Change: D1126E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: D1126E

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 benign
Transcript: ENSMUST00000112147
AA Change: D1158E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: D1158E

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 benign
Transcript: ENSMUST00000112149
AA Change: D1166E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: D1166E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.4%
10x: 93.9%
20x: 77.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Ch25h	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	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
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
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'- TCATGTGCTTCCCCATGGAC -3'
(R):5'- CATGAAAGTCTTTCCCAGAGGTC -3'

Sequencing Primer
(F):5'- AGGCACTGCTACTGCTGC -3'
(R):5'- TTTCCCAGAGGTCCAGGCTTG -3'

Posted On

2014-12-04