Mutagenetix > Incidental Mutation

Incidental Mutation 'R0825:Frmpd1'

78168

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

039005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45285394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1405 (D1405G)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

AlphaFold

A2AKB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044773
AA Change: D1405G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: D1405G

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: D1405G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: D1405G

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

0.0717

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 91.4%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,619,551 (GRCm39)	I963N	probably damaging	Het
Aox4	A	G	1: 58,288,068 (GRCm39)	D727G	possibly damaging	Het
Arhgef26	T	A	3: 62,334,014 (GRCm39)	I590N	probably damaging	Het
Arid1b	T	G	17: 5,392,453 (GRCm39)	C1994W	probably damaging	Het
Chd9	T	C	8: 91,777,825 (GRCm39)	I2628T	probably benign	Het
Clspn	G	A	4: 126,466,923 (GRCm39)		probably benign	Het
Cyp2a4	A	T	7: 26,012,341 (GRCm39)	T375S	probably benign	Het
Dmtf1	A	T	5: 9,180,388 (GRCm39)	M226K	probably damaging	Het
Erap1	T	C	13: 74,822,733 (GRCm39)		probably benign	Het
Gfm2	A	T	13: 97,279,612 (GRCm39)		probably benign	Het
Ghsr	T	C	3: 27,428,776 (GRCm39)	V267A	probably damaging	Het
Golga2	A	C	2: 32,194,803 (GRCm39)	Q650P	probably damaging	Het
Hmgcl	A	G	4: 135,687,381 (GRCm39)	T219A	probably benign	Het
Ift27	C	A	15: 78,049,336 (GRCm39)		probably benign	Het
Igfn1	C	T	1: 135,890,864 (GRCm39)	E2379K	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kpnb1	A	T	11: 97,062,501 (GRCm39)	S421R	probably damaging	Het
Minar1	G	A	9: 89,485,332 (GRCm39)	Q22*	probably null	Het
Mtx3	C	A	13: 92,986,849 (GRCm39)	T264K	probably damaging	Het
Nrg3	G	A	14: 39,194,348 (GRCm39)	P137L	possibly damaging	Het
Nt5c2	A	G	19: 46,887,344 (GRCm39)		probably benign	Het
Or2y1e	T	A	11: 49,218,509 (GRCm39)	H90Q	probably benign	Het
Or5ac17	G	T	16: 59,036,813 (GRCm39)	H54Q	possibly damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd5	G	A	7: 35,346,338 (GRCm39)	R91W	possibly damaging	Het
Pxdn	G	A	12: 30,034,995 (GRCm39)		probably benign	Het
Rgl2	T	A	17: 34,154,133 (GRCm39)		probably null	Het
Rnf217	T	C	10: 31,393,453 (GRCm39)	D376G	probably damaging	Het
Septin9	C	T	11: 117,250,286 (GRCm39)	L519F	probably damaging	Het
Slc15a5	C	T	6: 137,995,087 (GRCm39)	C386Y	possibly damaging	Het
Srrm4	T	A	5: 116,591,772 (GRCm39)	I256F	unknown	Het
Stab1	G	T	14: 30,874,557 (GRCm39)	D950E	probably benign	Het
Stim2	A	G	5: 54,275,825 (GRCm39)	T667A	probably benign	Het
Strbp	A	T	2: 37,525,539 (GRCm39)	N144K	probably benign	Het
Sync	A	G	4: 129,187,190 (GRCm39)	Y74C	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tgfbi	T	C	13: 56,786,523 (GRCm39)		probably benign	Het
Tmf1	A	T	6: 97,152,956 (GRCm39)	N372K	probably benign	Het
Ubr4	G	T	4: 139,206,887 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,197,224 (GRCm39)	N1226K	probably benign	Het
Ugt2b34	T	C	5: 87,054,560 (GRCm39)	I74V	possibly damaging	Het
Wdfy3	A	G	5: 102,017,917 (GRCm39)	L2541P	probably damaging	Het
Zfhx3	T	G	8: 109,675,840 (GRCm39)	F2297V	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
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'- CTATCATTTGCCTACCGCCTGAGAG -3'
(R):5'- CGGCTACAGTCTGTGAACTGGAAG -3'

Sequencing Primer
(F):5'- TTTGCCCCAGAGAGCCATC -3'
(R):5'- TGCTGGAAAGTGACCCG -3'

Posted On

2013-10-16