Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Frmpd4'

253967

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

040460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2872 (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: 98.6%
10x: 94.5%
20x: 80.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	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
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably 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
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
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'- GAAAGTCTTTCCCAGAGGTCC -3'

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

Posted On

2014-12-04