Mutagenetix > Incidental Mutation

Incidental Mutation 'R7423:Frmpd1'

575804

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

045501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45256948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 172 (Q172R)

Ref Sequence

ENSEMBL: ENSMUSP00000047232 (fasta)

Gene Model

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

AlphaFold

A2AKB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044773
AA Change: Q172R

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

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: Q172R

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: Q172R

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

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: Q172R

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: ENSMUST00000134280
AA Change: Q172R

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

SMART Domains

Protein: ENSMUSP00000118757
Gene: ENSMUSG00000035615
AA Change: Q172R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (91/95)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 57,175,257 (GRCm39)	M85K	probably benign	Het
Actn4	C	T	7: 28,593,680 (GRCm39)	A905T	probably damaging	Het
Aff1	T	A	5: 103,994,967 (GRCm39)	V1055D	probably damaging	Het
Aox3	A	G	1: 58,160,228 (GRCm39)	E137G	possibly damaging	Het
Apaf1	A	T	10: 90,895,468 (GRCm39)	D443E	probably damaging	Het
Arl5b	C	A	2: 15,072,983 (GRCm39)	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,714,023 (GRCm39)	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,105 (GRCm39)	E13Q	probably null	Het
Atpaf1	A	T	4: 115,647,827 (GRCm39)	K162M	probably damaging	Het
C3	A	T	17: 57,521,767 (GRCm39)	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,764,422 (GRCm39)	L36P	probably damaging	Het
Cct3	T	C	3: 88,216,503 (GRCm39)	L153S	probably benign	Het
Chd4	A	G	6: 125,105,822 (GRCm39)	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,928,845 (GRCm39)	I64V	probably benign	Het
Cnot2	A	T	10: 116,328,303 (GRCm39)	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,176,760 (GRCm39)	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,923,743 (GRCm39)	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,069,175 (GRCm39)	V130A	probably benign	Het
Dock10	G	A	1: 80,501,497 (GRCm39)	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,844,370 (GRCm39)	V910A	probably damaging	Het
Drgx	A	G	14: 32,350,778 (GRCm39)	S205G	probably damaging	Het
Fbrs	G	A	7: 127,088,633 (GRCm39)	W738*	probably null	Het
Fmnl3	T	A	15: 99,227,281 (GRCm39)	D162V	probably damaging	Het
Fosl2	A	G	5: 32,307,807 (GRCm39)	R133G	probably damaging	Het
Fsd1l	A	T	4: 53,686,406 (GRCm39)	D273V	probably damaging	Het
Fstl4	T	A	11: 52,959,382 (GRCm39)	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,923,541 (GRCm39)	D535G	probably damaging	Het
Gm19410	A	C	8: 36,271,761 (GRCm39)	D1277A	probably benign	Het
Gnmt	T	A	17: 47,037,066 (GRCm39)	N211Y	probably damaging	Het
Hic2	A	G	16: 17,075,993 (GRCm39)	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,156,849 (GRCm39)		probably benign	Het
Icam5	T	C	9: 20,948,201 (GRCm39)	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,561,120 (GRCm39)	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,719,072 (GRCm39)	S337T	probably damaging	Het
Inf2	G	T	12: 112,576,172 (GRCm39)	R883L	unknown	Het
Inhbc	C	T	10: 127,193,275 (GRCm39)	C247Y	probably damaging	Het
Ints4	A	G	7: 97,156,926 (GRCm39)	K333E	probably damaging	Het
Iyd	A	T	10: 3,497,088 (GRCm39)	I148F	probably damaging	Het
Klk1b26	A	T	7: 43,664,193 (GRCm39)	D16V	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lama2	A	T	10: 27,088,222 (GRCm39)	S852T	probably benign	Het
Mbtd1	A	G	11: 93,834,622 (GRCm39)	E600G	probably benign	Het
Mfap3	T	G	11: 57,420,329 (GRCm39)	N103K	probably damaging	Het
Mtor	G	A	4: 148,640,801 (GRCm39)	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,056,685 (GRCm39)	S1210N	probably benign	Het
Nat8	G	A	6: 85,807,477 (GRCm39)	L219F	probably benign	Het
Nisch	A	G	14: 30,893,658 (GRCm39)	V1305A	probably benign	Het
Nup153	A	T	13: 46,850,120 (GRCm39)		probably null	Het
Or3a1b	G	A	11: 74,012,811 (GRCm39)	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858 (GRCm39)		probably null	Het
Pbld2	A	G	10: 62,883,783 (GRCm39)	T83A	probably damaging	Het
Pcx	A	T	19: 4,671,206 (GRCm39)	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,329,874 (GRCm39)	R81L	probably benign	Het
Pik3cd	A	T	4: 149,736,220 (GRCm39)		probably null	Het
Plch2	A	C	4: 155,068,194 (GRCm39)	D1477E	probably damaging	Het
Plek2	A	G	12: 78,946,884 (GRCm39)	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,315,142 (GRCm39)	V505A	probably benign	Het
Pofut2	T	C	10: 77,098,273 (GRCm39)	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,887,370 (GRCm39)		probably benign	Het
Proca1	G	T	11: 78,085,643 (GRCm39)		probably benign	Het
Ptprs	A	C	17: 56,721,793 (GRCm39)	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,501,856 (GRCm39)	V1127M	probably damaging	Het
Ralbp1	T	C	17: 66,165,976 (GRCm39)	R403G	probably damaging	Het
Reps1	A	T	10: 17,969,635 (GRCm39)	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,293 (GRCm39)	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,287,083 (GRCm39)	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408 (GRCm39)	V951E	probably damaging	Het
Sbf2	A	G	7: 110,038,055 (GRCm39)	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,076,264 (GRCm39)	S560T	probably benign	Het
Slc26a8	A	G	17: 28,867,177 (GRCm39)	I548T	probably benign	Het
Slc2a13	T	A	15: 91,456,883 (GRCm39)	I140F	probably damaging	Het
Smtn	A	T	11: 3,481,200 (GRCm39)		probably null	Het
Sobp	G	T	10: 42,898,564 (GRCm39)	C340*	probably null	Het
Sox6	A	T	7: 115,149,258 (GRCm39)	V413E	probably benign	Het
Spin1	T	C	13: 51,277,326 (GRCm39)		probably null	Het
Sra1	T	C	18: 36,800,536 (GRCm39)	T224A	probably benign	Het
Sv2c	A	T	13: 96,185,056 (GRCm39)	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,511,655 (GRCm39)	A266S	probably damaging	Het
Tprg1	T	G	16: 25,241,003 (GRCm39)	S260A	probably damaging	Het
Trdv2-1	T	A	14: 54,183,935 (GRCm39)	W56R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc4	T	A	3: 54,225,450 (GRCm39)	V933E	probably benign	Het
Ulk4	A	T	9: 120,932,687 (GRCm39)	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,272,743 (GRCm39)	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,445,394 (GRCm39)	S10F	probably benign	Het
Vwce	A	G	19: 10,641,704 (GRCm39)	E810G	probably benign	Het
Wdr7	T	A	18: 63,910,451 (GRCm39)		probably null	Het
Wnk2	T	A	13: 49,191,608 (GRCm39)	E1283V	probably benign	Het
Zfp28	T	C	7: 6,396,956 (GRCm39)	C464R	probably damaging	Het
Zpld1	C	T	16: 55,054,027 (GRCm39)	C255Y	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
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
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'- TGAGTCCATAGCAACCGTG -3'
(R):5'- GCCACATTTAGGACTTGTTCC -3'

Sequencing Primer
(F):5'- TCCATAGCAACCGTGAGTGTG -3'
(R):5'- GGACTTGTTCCTCACCCAG -3'

Posted On

2019-10-07