Mutagenetix > Incidental Mutation

Incidental Mutation 'R5413:Frmpd1'

427576

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

042982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45249196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 129 (I129V)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

AlphaFold

A2AKB4

Predicted Effect

probably benign
Transcript: ENSMUST00000044773
AA Change: I129V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: I129V

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: ENSMUST00000107804
AA Change: I129V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: I129V

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: I129V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118757
Gene: ENSMUSG00000035615
AA Change: I129V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,911,204 (GRCm39)	T410S	possibly damaging	Het
Adamts3	A	G	5: 89,856,626 (GRCm39)	S316P	probably damaging	Het
Angptl3	A	T	4: 98,919,259 (GRCm39)	L6F	probably benign	Het
Clint1	T	C	11: 45,777,307 (GRCm39)	V98A	probably damaging	Het
Clk2	A	G	3: 89,080,785 (GRCm39)	N258S	probably benign	Het
Col18a1	T	C	10: 76,905,310 (GRCm39)	D723G	probably damaging	Het
Csmd3	A	T	15: 47,701,831 (GRCm39)	W1751R	probably damaging	Het
Daam1	C	A	12: 71,993,066 (GRCm39)	L352M	unknown	Het
Dennd2a	A	T	6: 39,441,227 (GRCm39)	F964I	probably damaging	Het
Dock5	A	G	14: 68,002,104 (GRCm39)	L1622P	probably damaging	Het
Dpy19l4	A	G	4: 11,289,700 (GRCm39)	L195P	probably damaging	Het
Esp24	A	C	17: 39,350,893 (GRCm39)	E31A	possibly damaging	Het
Fars2	T	A	13: 36,388,545 (GRCm39)	Y11*	probably null	Het
Fbxl16	C	A	17: 26,035,817 (GRCm39)	T138K	possibly damaging	Het
Gria1	A	G	11: 57,108,620 (GRCm39)	N241S	probably benign	Het
Homer1	A	G	13: 93,528,287 (GRCm39)	E274G	probably benign	Het
Igdcc3	T	C	9: 65,084,797 (GRCm39)	V189A	possibly damaging	Het
Igkv12-98	A	G	6: 68,548,078 (GRCm39)	Y68C	possibly damaging	Het
Igkv3-3	G	C	6: 70,664,414 (GRCm39)	R85S	probably damaging	Het
Ldha	A	G	7: 46,500,320 (GRCm39)	T144A	possibly damaging	Het
Lrp1	A	G	10: 127,423,936 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Or14c44	A	G	7: 86,061,675 (GRCm39)	Y35C	probably benign	Het
Or2n1d	G	T	17: 38,646,515 (GRCm39)	A156S	probably benign	Het
Or2y1b	A	T	11: 49,209,240 (GRCm39)	Y289F	probably damaging	Het
Or6b13	A	T	7: 139,782,635 (GRCm39)	V16E	possibly damaging	Het
Osbp	T	C	19: 11,961,855 (GRCm39)	Y551H	probably damaging	Het
Paf1	T	C	7: 28,096,040 (GRCm39)	M249T	possibly damaging	Het
Pcsk2	T	C	2: 143,538,620 (GRCm39)		probably null	Het
Piwil1	G	A	5: 128,820,944 (GRCm39)	V290I	possibly damaging	Het
Prmt9	A	T	8: 78,298,638 (GRCm39)	D444V	possibly damaging	Het
Rapgef2	T	C	3: 78,995,173 (GRCm39)	D677G	probably damaging	Het
Tmem59	A	G	4: 107,057,659 (GRCm39)	E237G	probably benign	Het
Trpm5	A	T	7: 142,634,705 (GRCm39)	I664N	probably damaging	Het
Unc13b	G	A	4: 43,257,936 (GRCm39)		probably null	Het
Usp17lc	C	A	7: 103,067,763 (GRCm39)	Q353K	probably benign	Het
Uvssa	G	A	5: 33,568,252 (GRCm39)	V547M	probably damaging	Het
Vdac1	G	T	11: 52,265,794 (GRCm39)	L52F	probably null	Het
Vmn2r14	T	A	5: 109,369,154 (GRCm39)	I140L	probably benign	Het
Wnt3a	A	G	11: 59,166,182 (GRCm39)	S33P	probably benign	Het
Wwp2	T	A	8: 108,281,710 (GRCm39)	Y300N	probably damaging	Het
Zwilch	T	A	9: 64,075,892 (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
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
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'- AGAGGCTTTTCTGAAGAGTAGG -3'
(R):5'- CTATGTCCAGGAGGGCTTCAAG -3'

Sequencing Primer
(F):5'- GAGTAGGGTTTACCACAGTCACC -3'
(R):5'- ACGGGATATCGTCCAAGA -3'

Posted On

2016-09-01