Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Frmpd1'

48772

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0524 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45256902 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 157 (V157M)

Ref Sequence

ENSEMBL: ENSMUSP00000118757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804] [ENSMUST00000134280]

AlphaFold

A2AKB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044773
AA Change: V157M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: V157M

Domain	Start	End	E-Value	Type
PDZ	67	135	5.72e-10	SMART
B41	177	401	4.85e-30	SMART
low complexity region	523	537	N/A	INTRINSIC
low complexity region	578	597	N/A	INTRINSIC
PDB:4G2V\|B	901	938	2e-15	PDB
low complexity region	962	980	N/A	INTRINSIC
low complexity region	1019	1030	N/A	INTRINSIC
low complexity region	1115	1130	N/A	INTRINSIC
Blast:B41	1264	1488	3e-44	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000107804
AA Change: V157M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: V157M

Domain	Start	End	E-Value	Type
PDZ	67	135	5.72e-10	SMART
B41	177	401	4.85e-30	SMART
low complexity region	523	537	N/A	INTRINSIC
low complexity region	578	597	N/A	INTRINSIC
PDB:4G2V\|B	901	938	2e-15	PDB
low complexity region	962	980	N/A	INTRINSIC
low complexity region	1019	1030	N/A	INTRINSIC
low complexity region	1115	1130	N/A	INTRINSIC
Blast:B41	1264	1488	3e-44	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000134280
AA Change: V157M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118757
Gene: ENSMUSG00000035615
AA Change: V157M

Domain	Start	End	E-Value	Type
PDZ	67	135	5.72e-10	SMART

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adamts16	T	C	13: 70,800,894	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511	P715T	probably damaging	Het
Bnipl	T	C	3: 95,249,829	D33G	probably benign	Het
Celsr2	T	C	3: 108,401,587	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048	I431K	probably damaging	Het
Fam135b	A	T	15: 71,462,284	D1020E	probably benign	Het
Flii	A	G	11: 60,720,061	V514A	probably damaging	Het
Gm6970	T	A	19: 47,170,494	K214M	unknown	Het
Gsr	G	A	8: 33,669,180		probably null	Het
Hps3	A	T	3: 20,012,776	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,873,552	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,013,424	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,283,618	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,172,770	R142*	probably null	Het
Pygl	T	A	12: 70,207,724	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942	I878T	probably damaging	Het
Tmem232	A	G	17: 65,485,942	S87P	probably damaging	Het
Tmem260	A	G	14: 48,472,478	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651		probably null	Het
Vmn1r72	A	G	7: 11,669,792	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364	D119G	unknown	Het
Zfp719	A	G	7: 43,589,253		probably null	Het

Other mutations in Frmpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Frmpd1	APN	4	45279456	missense	possibly damaging	0.61
IGL01678:Frmpd1	APN	4	45243717	missense	probably damaging	1.00
IGL01815:Frmpd1	APN	4	45284239	missense	probably benign
IGL02305:Frmpd1	APN	4	45249209	missense	probably damaging	1.00
IGL02347:Frmpd1	APN	4	45270023	splice site	probably null
IGL02586:Frmpd1	APN	4	45285160	missense	probably damaging	1.00
IGL02704:Frmpd1	APN	4	45285082	missense	possibly damaging	0.83
IGL02942:Frmpd1	APN	4	45285493	missense	probably damaging	0.99
IGL03353:Frmpd1	APN	4	45261926	missense	probably damaging	1.00
IGL03355:Frmpd1	APN	4	45279140	missense	probably damaging	1.00
IGL03401:Frmpd1	APN	4	45284383	missense	probably benign	0.28
IGL03047:Frmpd1	UTSW	4	45283993	missense	probably damaging	1.00
R0094:Frmpd1	UTSW	4	45284899	nonsense	probably null
R0103:Frmpd1	UTSW	4	45229884	missense	probably damaging	0.99
R0103:Frmpd1	UTSW	4	45229884	missense	probably damaging	0.99
R0109:Frmpd1	UTSW	4	45279340	missense	probably benign	0.03
R0109:Frmpd1	UTSW	4	45279340	missense	probably benign	0.03
R0375:Frmpd1	UTSW	4	45284196	missense	probably benign	0.00
R0508:Frmpd1	UTSW	4	45284938	missense	unknown
R0524:Frmpd1	UTSW	4	45283774	missense	probably benign	0.00
R0625:Frmpd1	UTSW	4	45284055	missense	probably benign
R0825:Frmpd1	UTSW	4	45285394	missense	possibly damaging	0.93
R0926:Frmpd1	UTSW	4	45268497	missense	probably damaging	1.00
R0975:Frmpd1	UTSW	4	45279000	missense	probably benign	0.01
R1465:Frmpd1	UTSW	4	45273197	missense	probably damaging	1.00
R1465:Frmpd1	UTSW	4	45273197	missense	probably damaging	1.00
R1573:Frmpd1	UTSW	4	45283932	missense	probably benign	0.01
R1938:Frmpd1	UTSW	4	45283711	missense	probably damaging	1.00
R2334:Frmpd1	UTSW	4	45285408	missense	probably damaging	0.97
R2413:Frmpd1	UTSW	4	45278969	missense	probably benign	0.02
R2760:Frmpd1	UTSW	4	45244667	missense	possibly damaging	0.77
R3856:Frmpd1	UTSW	4	45283698	missense	probably damaging	1.00
R3876:Frmpd1	UTSW	4	45284093	missense	probably benign	0.01
R4080:Frmpd1	UTSW	4	45284382	missense	probably benign
R4597:Frmpd1	UTSW	4	45274441	missense	probably benign	0.12
R4714:Frmpd1	UTSW	4	45284785	missense	probably benign	0.11
R4779:Frmpd1	UTSW	4	45229865	missense	probably damaging	1.00
R4957:Frmpd1	UTSW	4	45273099	missense	probably damaging	1.00
R5000:Frmpd1	UTSW	4	45261931	splice site	probably null
R5041:Frmpd1	UTSW	4	45278878	missense	probably damaging	1.00
R5228:Frmpd1	UTSW	4	45284322	missense	probably damaging	0.98
R5413:Frmpd1	UTSW	4	45249196	missense	probably benign	0.00
R5560:Frmpd1	UTSW	4	45243697	missense	probably damaging	1.00
R6133:Frmpd1	UTSW	4	45284915	missense	probably benign	0.01
R6158:Frmpd1	UTSW	4	45285401	missense	probably damaging	1.00
R6329:Frmpd1	UTSW	4	45268551	missense	possibly damaging	0.80
R6338:Frmpd1	UTSW	4	45274489	missense	probably benign	0.00
R6544:Frmpd1	UTSW	4	45279024	missense	probably damaging	1.00
R6728:Frmpd1	UTSW	4	45284664	missense	probably benign
R6748:Frmpd1	UTSW	4	45274397	missense	probably benign	0.08
R6798:Frmpd1	UTSW	4	45284850	missense	probably benign	0.17
R6828:Frmpd1	UTSW	4	45275383	missense	probably damaging	0.99
R7002:Frmpd1	UTSW	4	45284200	missense	probably benign
R7258:Frmpd1	UTSW	4	45269974	missense	possibly damaging	0.79
R7295:Frmpd1	UTSW	4	45285700	missense	probably damaging	1.00
R7382:Frmpd1	UTSW	4	45278880	missense	probably benign	0.00
R7423:Frmpd1	UTSW	4	45256948	missense	probably damaging	1.00
R7451:Frmpd1	UTSW	4	45279558	missense	probably benign	0.11
R7492:Frmpd1	UTSW	4	45285237	missense	possibly damaging	0.71
R7524:Frmpd1	UTSW	4	45271181	missense	probably benign	0.16
R7610:Frmpd1	UTSW	4	45279098	missense	probably damaging	1.00
R7719:Frmpd1	UTSW	4	45284841	missense	possibly damaging	0.52
R7724:Frmpd1	UTSW	4	45229888	missense	probably damaging	1.00
R7891:Frmpd1	UTSW	4	45284478	missense	probably benign	0.06
R8010:Frmpd1	UTSW	4	45284272	missense	possibly damaging	0.51
R8260:Frmpd1	UTSW	4	45244638	missense	probably damaging	0.99
R8528:Frmpd1	UTSW	4	45285034	missense	probably benign
R8794:Frmpd1	UTSW	4	45279632	missense	probably benign	0.00
R8798:Frmpd1	UTSW	4	45285424	missense	possibly damaging	0.95
R8954:Frmpd1	UTSW	4	45284702	missense	probably benign	0.02
R9058:Frmpd1	UTSW	4	45283948	missense	probably damaging	1.00
R9178:Frmpd1	UTSW	4	45285367	missense	probably damaging	1.00
R9281:Frmpd1	UTSW	4	45284127	missense	probably benign	0.11
R9408:Frmpd1	UTSW	4	45279182	missense	probably benign	0.00
R9532:Frmpd1	UTSW	4	45278886	missense
Z1088:Frmpd1	UTSW	4	45284080	missense	possibly damaging	0.93
Z1177:Frmpd1	UTSW	4	45275272	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGAAGCTAGGACCTGAAGTC -3'
(R):5'- GCCTCCAGCAAATGTCTGTCACTC -3'

Sequencing Primer
(F):5'- GTacacacacacacacacacac -3'
(R):5'- AAATGTCTGTCACTCCCACTAC -3'

Posted On

2013-06-12