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(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45256902 bp (GRCm39)

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: 180,574,624 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,949,013 (GRCm39)	E216G	probably benign	Het
Aoc3	C	A	11: 101,228,337 (GRCm39)	P715T	probably damaging	Het
Bnipl	T	C	3: 95,157,140 (GRCm39)	D33G	probably benign	Het
Celsr2	T	C	3: 108,308,903 (GRCm39)	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,531,082 (GRCm39)	H756L	probably benign	Het
Clca4a	A	G	3: 144,675,154 (GRCm39)	W159R	probably damaging	Het
Ddx49	A	T	8: 70,749,574 (GRCm39)	I252N	probably damaging	Het
Duox2	T	C	2: 122,112,317 (GRCm39)	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,565,412 (GRCm39)	I431K	probably damaging	Het
Fam135b	A	T	15: 71,334,133 (GRCm39)	D1020E	probably benign	Het
Flii	A	G	11: 60,610,887 (GRCm39)	V514A	probably damaging	Het
Gsr	G	A	8: 34,159,208 (GRCm39)		probably null	Het
H1f11-ps	T	A	19: 47,158,933 (GRCm39)	K214M	unknown	Het
Hps3	A	T	3: 20,066,940 (GRCm39)	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,234,270 (GRCm39)	I15T	probably benign	Het
Kif2b	T	C	11: 91,466,550 (GRCm39)	R578G	probably benign	Het
Lamb2	A	G	9: 108,361,571 (GRCm39)	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,692,302 (GRCm39)	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,146,477 (GRCm39)	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,306,474 (GRCm39)	W69R	probably benign	Het
Nsd3	C	A	8: 26,190,605 (GRCm39)	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,189,384 (GRCm39)	S150P	probably damaging	Het
Or2g1	A	T	17: 38,106,496 (GRCm39)	K54*	probably null	Het
Or5b116	A	G	19: 13,423,228 (GRCm39)	N284S	probably damaging	Het
Pask	A	T	1: 93,238,556 (GRCm39)	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,710,091 (GRCm39)	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,029,488 (GRCm39)	I700V	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,330,401 (GRCm39)	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,310,833 (GRCm39)	R142*	probably null	Het
Pygl	T	A	12: 70,254,498 (GRCm39)	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,581,110 (GRCm39)	S1285T	probably benign	Het
Rdh13	A	C	7: 4,447,296 (GRCm39)	C10W	probably damaging	Het
Rgr	A	T	14: 36,760,252 (GRCm39)	C273S	probably benign	Het
Ripk4	G	T	16: 97,556,487 (GRCm39)	Y22*	probably null	Het
Slc34a2	G	A	5: 53,222,215 (GRCm39)	W302*	probably null	Het
Smarce1	G	A	11: 99,104,888 (GRCm39)	T263M	probably damaging	Het
Sypl1	C	T	12: 33,017,564 (GRCm39)	P94L	possibly damaging	Het
Tet3	A	G	6: 83,356,924 (GRCm39)	I878T	probably damaging	Het
Tmem232	A	G	17: 65,792,937 (GRCm39)	S87P	probably damaging	Het
Tmem260	A	G	14: 48,709,935 (GRCm39)	T163A	probably benign	Het
Ttn	T	C	2: 76,555,796 (GRCm39)	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 40,927,904 (GRCm39)	M468K	probably benign	Het
Ulk4	A	G	9: 121,081,717 (GRCm39)		probably null	Het
Vmn1r72	A	G	7: 11,403,719 (GRCm39)	F243S	probably benign	Het
Wrap73	A	G	4: 154,229,764 (GRCm39)	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,674,424 (GRCm39)	D119G	unknown	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het

Other mutations in Frmpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Frmpd1	APN	4	45,279,456 (GRCm39)	missense	possibly damaging	0.61
IGL01678:Frmpd1	APN	4	45,243,717 (GRCm39)	missense	probably damaging	1.00
IGL01815:Frmpd1	APN	4	45,284,239 (GRCm39)	missense	probably benign
IGL02305:Frmpd1	APN	4	45,249,209 (GRCm39)	missense	probably damaging	1.00
IGL02347:Frmpd1	APN	4	45,270,023 (GRCm39)	splice site	probably null
IGL02586:Frmpd1	APN	4	45,285,160 (GRCm39)	missense	probably damaging	1.00
IGL02704:Frmpd1	APN	4	45,285,082 (GRCm39)	missense	possibly damaging	0.83
IGL02942:Frmpd1	APN	4	45,285,493 (GRCm39)	missense	probably damaging	0.99
IGL03353:Frmpd1	APN	4	45,261,926 (GRCm39)	missense	probably damaging	1.00
IGL03355:Frmpd1	APN	4	45,279,140 (GRCm39)	missense	probably damaging	1.00
IGL03401:Frmpd1	APN	4	45,284,383 (GRCm39)	missense	probably benign	0.28
IGL03047:Frmpd1	UTSW	4	45,283,993 (GRCm39)	missense	probably damaging	1.00
R0094:Frmpd1	UTSW	4	45,284,899 (GRCm39)	nonsense	probably null
R0103:Frmpd1	UTSW	4	45,229,884 (GRCm39)	missense	probably damaging	0.99
R0103:Frmpd1	UTSW	4	45,229,884 (GRCm39)	missense	probably damaging	0.99
R0109:Frmpd1	UTSW	4	45,279,340 (GRCm39)	missense	probably benign	0.03
R0109:Frmpd1	UTSW	4	45,279,340 (GRCm39)	missense	probably benign	0.03
R0375:Frmpd1	UTSW	4	45,284,196 (GRCm39)	missense	probably benign	0.00
R0508:Frmpd1	UTSW	4	45,284,938 (GRCm39)	missense	unknown
R0524:Frmpd1	UTSW	4	45,283,774 (GRCm39)	missense	probably benign	0.00
R0625:Frmpd1	UTSW	4	45,284,055 (GRCm39)	missense	probably benign
R0825:Frmpd1	UTSW	4	45,285,394 (GRCm39)	missense	possibly damaging	0.93
R0926:Frmpd1	UTSW	4	45,268,497 (GRCm39)	missense	probably damaging	1.00
R0975:Frmpd1	UTSW	4	45,279,000 (GRCm39)	missense	probably benign	0.01
R1465:Frmpd1	UTSW	4	45,273,197 (GRCm39)	missense	probably damaging	1.00
R1465:Frmpd1	UTSW	4	45,273,197 (GRCm39)	missense	probably damaging	1.00
R1573:Frmpd1	UTSW	4	45,283,932 (GRCm39)	missense	probably benign	0.01
R1938:Frmpd1	UTSW	4	45,283,711 (GRCm39)	missense	probably damaging	1.00
R2334:Frmpd1	UTSW	4	45,285,408 (GRCm39)	missense	probably damaging	0.97
R2413:Frmpd1	UTSW	4	45,278,969 (GRCm39)	missense	probably benign	0.02
R2760:Frmpd1	UTSW	4	45,244,667 (GRCm39)	missense	possibly damaging	0.77
R3856:Frmpd1	UTSW	4	45,283,698 (GRCm39)	missense	probably damaging	1.00
R3876:Frmpd1	UTSW	4	45,284,093 (GRCm39)	missense	probably benign	0.01
R4080:Frmpd1	UTSW	4	45,284,382 (GRCm39)	missense	probably benign
R4597:Frmpd1	UTSW	4	45,274,441 (GRCm39)	missense	probably benign	0.12
R4714:Frmpd1	UTSW	4	45,284,785 (GRCm39)	missense	probably benign	0.11
R4779:Frmpd1	UTSW	4	45,229,865 (GRCm39)	missense	probably damaging	1.00
R4957:Frmpd1	UTSW	4	45,273,099 (GRCm39)	missense	probably damaging	1.00
R5000:Frmpd1	UTSW	4	45,261,931 (GRCm39)	splice site	probably null
R5041:Frmpd1	UTSW	4	45,278,878 (GRCm39)	missense	probably damaging	1.00
R5228:Frmpd1	UTSW	4	45,284,322 (GRCm39)	missense	probably damaging	0.98
R5413:Frmpd1	UTSW	4	45,249,196 (GRCm39)	missense	probably benign	0.00
R5560:Frmpd1	UTSW	4	45,243,697 (GRCm39)	missense	probably damaging	1.00
R6133:Frmpd1	UTSW	4	45,284,915 (GRCm39)	missense	probably benign	0.01
R6158:Frmpd1	UTSW	4	45,285,401 (GRCm39)	missense	probably damaging	1.00
R6329:Frmpd1	UTSW	4	45,268,551 (GRCm39)	missense	possibly damaging	0.80
R6338:Frmpd1	UTSW	4	45,274,489 (GRCm39)	missense	probably benign	0.00
R6544:Frmpd1	UTSW	4	45,279,024 (GRCm39)	missense	probably damaging	1.00
R6728:Frmpd1	UTSW	4	45,284,664 (GRCm39)	missense	probably benign
R6748:Frmpd1	UTSW	4	45,274,397 (GRCm39)	missense	probably benign	0.08
R6798:Frmpd1	UTSW	4	45,284,850 (GRCm39)	missense	probably benign	0.17
R6828:Frmpd1	UTSW	4	45,275,383 (GRCm39)	missense	probably damaging	0.99
R7002:Frmpd1	UTSW	4	45,284,200 (GRCm39)	missense	probably benign
R7258:Frmpd1	UTSW	4	45,269,974 (GRCm39)	missense	possibly damaging	0.79
R7295:Frmpd1	UTSW	4	45,285,700 (GRCm39)	missense	probably damaging	1.00
R7382:Frmpd1	UTSW	4	45,278,880 (GRCm39)	missense	probably benign	0.00
R7423:Frmpd1	UTSW	4	45,256,948 (GRCm39)	missense	probably damaging	1.00
R7451:Frmpd1	UTSW	4	45,279,558 (GRCm39)	missense	probably benign	0.11
R7492:Frmpd1	UTSW	4	45,285,237 (GRCm39)	missense	possibly damaging	0.71
R7524:Frmpd1	UTSW	4	45,271,181 (GRCm39)	missense	probably benign	0.16
R7610:Frmpd1	UTSW	4	45,279,098 (GRCm39)	missense	probably damaging	1.00
R7719:Frmpd1	UTSW	4	45,284,841 (GRCm39)	missense	possibly damaging	0.52
R7724:Frmpd1	UTSW	4	45,229,888 (GRCm39)	missense	probably damaging	1.00
R7891:Frmpd1	UTSW	4	45,284,478 (GRCm39)	missense	probably benign	0.06
R8010:Frmpd1	UTSW	4	45,284,272 (GRCm39)	missense	possibly damaging	0.51
R8260:Frmpd1	UTSW	4	45,244,638 (GRCm39)	missense	probably damaging	0.99
R8528:Frmpd1	UTSW	4	45,285,034 (GRCm39)	missense	probably benign
R8794:Frmpd1	UTSW	4	45,279,632 (GRCm39)	missense	probably benign	0.00
R8798:Frmpd1	UTSW	4	45,285,424 (GRCm39)	missense	possibly damaging	0.95
R8954:Frmpd1	UTSW	4	45,284,702 (GRCm39)	missense	probably benign	0.02
R9058:Frmpd1	UTSW	4	45,283,948 (GRCm39)	missense	probably damaging	1.00
R9178:Frmpd1	UTSW	4	45,285,367 (GRCm39)	missense	probably damaging	1.00
R9281:Frmpd1	UTSW	4	45,284,127 (GRCm39)	missense	probably benign	0.11
R9408:Frmpd1	UTSW	4	45,279,182 (GRCm39)	missense	probably benign	0.00
R9532:Frmpd1	UTSW	4	45,278,886 (GRCm39)	missense
Z1088:Frmpd1	UTSW	4	45,284,080 (GRCm39)	missense	possibly damaging	0.93
Z1177:Frmpd1	UTSW	4	45,275,272 (GRCm39)	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