Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Frmpd4'

253813

Institutional Source

Beutler Lab

Gene Symbol

Frmpd4

Ensembl Gene

ENSMUSG00000049176

Gene Name

FERM and PDZ domain containing 4

Synonyms

Preso1, Pdzk10, LOC237234, Pdzd10, PKAP1, Preso

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2871 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

167471309-168577231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 167477247 bp (GRCm38)

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: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Frmpd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Frmpd4	APN	X	167492935	missense	probably damaging	1.00
IGL02476:Frmpd4	APN	X	167497855	missense	probably damaging	1.00
IGL03142:Frmpd4	APN	X	167479483	missense	possibly damaging	0.86
IGL03292:Frmpd4	APN	X	167477590	missense	probably benign
PIT4283001:Frmpd4	UTSW	X	167729034	missense	possibly damaging	0.95
R0647:Frmpd4	UTSW	X	167489010	missense	probably damaging	1.00
R1520:Frmpd4	UTSW	X	167492953	missense	probably damaging	1.00
R2869:Frmpd4	UTSW	X	167477247	missense	probably benign	0.24
R2869:Frmpd4	UTSW	X	167477247	missense	probably benign	0.24
R2871:Frmpd4	UTSW	X	167477247	missense	probably benign	0.24
R2872:Frmpd4	UTSW	X	167477247	missense	probably benign	0.24
R2872:Frmpd4	UTSW	X	167477247	missense	probably benign	0.24
R2874:Frmpd4	UTSW	X	167477247	missense	probably benign	0.24
R3729:Frmpd4	UTSW	X	167486807	missense	probably damaging	0.96
R3731:Frmpd4	UTSW	X	167486807	missense	probably damaging	0.96
R6943:Frmpd4	UTSW	X	167604583	missense	probably damaging	1.00
Z1088:Frmpd4	UTSW	X	167497840	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGTGCTTCCCCATGGAC -3'
(R):5'- ATGAAAGTCTTTCCCAGAGGTC -3'

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

Posted On

2014-12-04