Mutagenetix > Incidental Mutations

Incidental Mutation 'R2760:Frmpd1'

253981

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2760 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45244667 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 119 (I119L)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044773
AA Change: I119L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: I119L

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

possibly damaging
Transcript: ENSMUST00000107804
AA Change: I119L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: I119L

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 benign
Transcript: ENSMUST00000134280
AA Change: I119L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118757
Gene: ENSMUSG00000035615
AA Change: I119L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134640

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Atp8a2	C	T	14: 59,860,192	V796I	probably benign	Het
Btnl1	T	G	17: 34,381,038	W172G	probably damaging	Het
Ceacam1	T	C	7: 25,477,474	T21A	probably damaging	Het
Fam69b	A	G	2: 26,635,825	H257R	probably benign	Het
Haus6	A	T	4: 86,583,176	Y819*	probably null	Het
Ildr2	A	G	1: 166,303,606	R344G	probably damaging	Het
Irs1	T	C	1: 82,288,570	I642V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Lum	T	C	10: 97,568,771	V176A	probably benign	Het
Nobox	A	G	6: 43,304,106	L478P	probably damaging	Het
Olfr1200	T	A	2: 88,767,636	R226S	possibly damaging	Het
Olfr1415	A	G	1: 92,491,080	V225A	probably damaging	Het
Olfr544	T	C	7: 102,484,376	H248R	probably damaging	Het
Olfr8	A	T	10: 78,956,042	Y279F	probably damaging	Het
Olfr981	T	A	9: 40,022,396	M1K	probably null	Het
Rtn1	A	T	12: 72,408,362	C64S	probably benign	Het
Senp6	A	G	9: 80,121,978	Y285C	probably null	Het
Slco1a5	C	A	6: 142,250,271	M335I	probably benign	Het
Spg11	A	T	2: 122,097,359	I648K	probably damaging	Het
Ube2cbp	T	C	9: 86,422,974	I272V	probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Utrn	A	G	10: 12,690,878	V1180A	probably damaging	Het
Vill	T	C	9: 119,066,882		probably null	Het
Vmn2r101	T	C	17: 19,589,639	I229T	probably benign	Het
Zbtb8b	A	T	4: 129,432,500	L291M	probably benign	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	45256902	missense	probably damaging	1.00
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
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
Z1088:Frmpd1	UTSW	4	45284080	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTTCCTGTGGTCTACAACGAG -3'
(R):5'- AGACGGCAGATCATAATACTGTC -3'

Sequencing Primer
(F):5'- TAAGGGTCCTAGGCTGCCATG -3'
(R):5'- CGGCAGATCATAATACTGTCATAGC -3'

Posted On

2014-12-04