Mutagenetix > Incidental Mutation

Incidental Mutation 'R5041:Frmpd1'

393203

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

042631-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45278878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 534 (C534W)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

AlphaFold

A2AKB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044773
AA Change: C534W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: C534W

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: C534W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: C534W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,550,711 (GRCm39)	F667S	probably benign	Het
Akna	A	G	4: 63,305,381 (GRCm39)	Y462H	possibly damaging	Het
Anxa11	G	T	14: 25,875,188 (GRCm39)	E278*	probably null	Het
Ap3s2	T	C	7: 79,570,267 (GRCm39)	Y20C	probably benign	Het
Atxn7	T	C	14: 14,096,317 (GRCm38)		probably null	Het
AW551984	T	C	9: 39,511,894 (GRCm39)	Y39C	probably damaging	Het
Becn1	A	T	11: 101,179,662 (GRCm39)	S442T	probably benign	Het
Bhlhe40	C	T	6: 108,639,546 (GRCm39)	T108I	probably damaging	Het
Cnst	A	G	1: 179,432,593 (GRCm39)	D252G	probably damaging	Het
Cpxm1	A	G	2: 130,235,990 (GRCm39)	S391P	probably damaging	Het
Ctnna2	T	A	6: 76,892,746 (GRCm39)	N814Y	probably damaging	Het
Ddx3y	T	A	Y: 1,266,611 (GRCm39)	Y282F	probably benign	Het
Ddx56	A	G	11: 6,214,178 (GRCm39)	V357A	probably damaging	Het
Gimap8	A	G	6: 48,636,097 (GRCm39)	N621D	probably damaging	Het
Herc1	T	A	9: 66,336,327 (GRCm39)	I1624N	possibly damaging	Het
Htr7	A	C	19: 36,034,467 (GRCm39)	W63G	probably benign	Het
Ly6g6c	T	A	17: 35,284,428 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,290,839 (GRCm39)		probably null	Het
Mfrp	A	G	9: 44,013,575 (GRCm39)	D62G	probably damaging	Het
Ncam1	T	C	9: 49,478,085 (GRCm39)	Y173C	probably damaging	Het
Nwd1	T	C	8: 73,431,683 (GRCm39)	V1185A	possibly damaging	Het
Or4c113	A	T	2: 88,885,265 (GRCm39)	C168*	probably null	Het
Or51h7	T	C	7: 102,591,785 (GRCm39)		probably null	Het
Pcf11	G	A	7: 92,307,613 (GRCm39)	P852S	probably benign	Het
Pramel25	T	C	4: 143,520,260 (GRCm39)	V4A	probably benign	Het
Ralgapa2	T	C	2: 146,327,071 (GRCm39)	I63V	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,287,572 (GRCm39)	F619L	probably damaging	Het
Sec24d	A	T	3: 123,087,880 (GRCm39)	Q247L	probably damaging	Het
Spmap2l	A	G	5: 77,203,928 (GRCm39)	T319A	probably benign	Het
Spns3	G	T	11: 72,427,373 (GRCm39)	Q306K	possibly damaging	Het
Sstr1	T	C	12: 58,259,941 (GRCm39)	V188A	possibly damaging	Het
Supt5	A	T	7: 28,014,805 (GRCm39)	L1024Q	probably damaging	Het
Tent4b	CCCAACAACGCCAACAA	CCCAACAA	8: 88,981,878 (GRCm39)		probably benign	Het
Unc13b	T	A	4: 43,237,836 (GRCm39)	H3452Q	probably benign	Het
Usp28	A	G	9: 48,949,073 (GRCm39)	Q864R	probably benign	Het
Vmn2r43	T	C	7: 8,247,806 (GRCm39)	T786A	probably damaging	Het
Yy1	TCACCACCACCACCACCACCACCACCACC	TCACCACCACCACCACCACCACCACCACCACC	12: 108,759,557 (GRCm39)		probably benign	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
R0524:Frmpd1	UTSW	4	45,256,902 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGGACTCACTCTGTGGCTC -3'
(R):5'- ATGCCTCCGATTCAGCACTG -3'

Sequencing Primer
(F):5'- GGCATTAGTCAACCTAGTATGACTC -3'
(R):5'- AGCACTGTCTGTCATGCTG -3'

Posted On

2016-06-15