Mutagenetix > Incidental Mutation

Incidental Mutation 'R6828:Frmpd1'

534241

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

045020-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45275383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 512 (V512A)

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: V512A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: V512A

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: V512A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: V512A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,545,389 (GRCm39)	M349K	possibly damaging	Het
Akap12	A	G	10: 4,304,606 (GRCm39)	E472G	probably damaging	Het
Ap2s1	T	C	7: 16,482,626 (GRCm39)	Y94H	probably damaging	Het
Apeh	A	G	9: 107,964,237 (GRCm39)	F530L	probably damaging	Het
Aplnr	G	A	2: 84,970,103 (GRCm39)		probably benign	Het
Arid3b	A	G	9: 57,717,446 (GRCm39)		probably null	Het
Ash1l	A	C	3: 88,983,420 (GRCm39)	D2874A	probably benign	Het
Aurka	T	A	2: 172,199,172 (GRCm39)	R277S	probably damaging	Het
Calhm4	A	G	10: 33,919,953 (GRCm39)	F105L	possibly damaging	Het
Ccar1	C	A	10: 62,600,209 (GRCm39)	W574L	probably damaging	Het
Cd8b1	T	C	6: 71,311,100 (GRCm39)	F207L	probably benign	Het
Clec14a	T	C	12: 58,315,290 (GRCm39)	R111G	probably damaging	Het
Clk3	G	A	9: 57,668,132 (GRCm39)	T263I	possibly damaging	Het
Col11a2	A	G	17: 34,272,607 (GRCm39)		probably null	Het
Col5a3	C	T	9: 20,709,748 (GRCm39)	G604D	unknown	Het
Cracdl	T	C	1: 37,663,898 (GRCm39)	T667A	possibly damaging	Het
Crb2	ACTGCTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	2: 37,666,421 (GRCm39)		probably benign	Het
Ctps1	A	T	4: 120,405,335 (GRCm39)	V369D	probably damaging	Het
Dennd5b	A	G	6: 148,895,244 (GRCm39)	I1262T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Fam170b	A	G	14: 32,557,915 (GRCm39)	D250G	probably damaging	Het
Foxs1	G	A	2: 152,775,048 (GRCm39)	Q2*	probably null	Het
Fry	G	A	5: 150,389,911 (GRCm39)		probably null	Het
Gria1	A	G	11: 57,180,288 (GRCm39)	Y677C	probably damaging	Het
Igdcc4	T	C	9: 65,029,979 (GRCm39)	I343T	probably benign	Het
Igkv1-132	T	C	6: 67,736,697 (GRCm39)	V5A	probably benign	Het
Ikzf5	A	T	7: 130,993,401 (GRCm39)	C256S	probably damaging	Het
Itk	G	A	11: 46,232,045 (GRCm39)	H297Y	probably damaging	Het
Lamb3	A	G	1: 193,017,756 (GRCm39)	E879G	probably benign	Het
Lpin2	T	C	17: 71,529,123 (GRCm39)	V127A	probably damaging	Het
Man2b1	C	A	8: 85,813,548 (GRCm39)	P247T	possibly damaging	Het
Meak7	G	A	8: 120,499,306 (GRCm39)	T62I	possibly damaging	Het
Mxd3	T	C	13: 55,473,967 (GRCm39)	K122E	probably benign	Het
Npr1	C	A	3: 90,372,120 (GRCm39)	V231L	probably benign	Het
Nsd2	C	T	5: 34,050,912 (GRCm39)	A1263V	probably damaging	Het
Olfm4	A	G	14: 80,258,973 (GRCm39)	D374G	probably damaging	Het
Optc	A	T	1: 133,825,605 (GRCm39)	I307N	probably damaging	Het
Or5p80	A	C	7: 108,229,500 (GRCm39)	Q100H	possibly damaging	Het
Or6c3b	A	T	10: 129,527,863 (GRCm39)	S16T	probably damaging	Het
Pecr	C	A	1: 72,306,616 (GRCm39)	E222*	probably null	Het
Pibf1	A	G	14: 99,423,987 (GRCm39)	N520S	probably benign	Het
Rhoj	A	G	12: 75,355,653 (GRCm39)	N19S	probably benign	Het
Rock2	G	A	12: 16,992,960 (GRCm39)		probably null	Het
Rpa1	G	A	11: 75,205,697 (GRCm39)	T220I	probably damaging	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Sipa1l3	G	A	7: 29,038,457 (GRCm39)	H397Y	probably benign	Het
Snrk	T	C	9: 121,966,632 (GRCm39)	I185T	probably damaging	Het
Srrt	A	T	5: 137,295,230 (GRCm39)	V300E	probably damaging	Het
Taok2	A	T	7: 126,471,047 (GRCm39)		probably null	Het
Tmem131	T	C	1: 36,843,724 (GRCm39)	K1379R	possibly damaging	Het
Usp15	T	C	10: 122,963,894 (GRCm39)	I543V	probably damaging	Het
Zfp553	A	G	7: 126,835,447 (GRCm39)	E334G	probably damaging	Het
Zim1	T	C	7: 6,680,688 (GRCm39)	Y325C	probably damaging	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
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
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'- ATCTGGGTCCTCTACAAACAGAAAC -3'
(R):5'- AGTGACGTCTCCTTTTGCTG -3'

Sequencing Primer
(F):5'- AGAAACTTTCTATTCACCTTCACAGG -3'
(R):5'- CTTAGAGACTGCTTTGGGAAACTC -3'

Posted On

2018-09-12