Mutagenetix > Incidental Mutation

Incidental Mutation 'R8954:Frmpd1'

681814

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

068790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45284702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1174 (E1174D)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

AlphaFold

A2AKB4

Predicted Effect

probably benign
Transcript: ENSMUST00000044773
AA Change: E1174D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: E1174D

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: E1174D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: E1174D

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	A	2: 93,688,299 (GRCm39)	Y445F	probably benign	Het
Actn4	T	C	7: 28,594,583 (GRCm39)	D815G	probably damaging	Het
Adam4	T	C	12: 81,467,146 (GRCm39)	S492G	possibly damaging	Het
Anapc2	A	G	2: 25,170,490 (GRCm39)	K643E	probably benign	Het
Ankfy1	T	A	11: 72,641,317 (GRCm39)	I630K	possibly damaging	Het
Arhgap24	A	G	5: 103,040,136 (GRCm39)	T361A	probably benign	Het
Arhgef28	T	C	13: 98,066,141 (GRCm39)	M1571V	probably benign	Het
Arid5b	A	C	10: 67,937,810 (GRCm39)	V196G	possibly damaging	Het
Art2b	C	A	7: 101,229,110 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,807 (GRCm39)	R932H	probably damaging	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Brd10	A	T	19: 29,696,126 (GRCm39)	N1122K	possibly damaging	Het
C5ar2	C	A	7: 15,971,733 (GRCm39)	V65F	possibly damaging	Het
Cfap54	A	T	10: 92,879,255 (GRCm39)	L403Q	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Chac1	C	T	2: 119,183,836 (GRCm39)	A146V	probably damaging	Het
Cpne2	T	A	8: 95,284,774 (GRCm39)	S317T	probably damaging	Het
Cux1	T	A	5: 136,402,203 (GRCm39)	K138*	probably null	Het
Cwc22	T	A	2: 77,754,937 (GRCm39)	Y214F	probably damaging	Het
Cyp2c39	A	T	19: 39,525,197 (GRCm39)	T167S	probably benign	Het
Cyp4a12a	T	A	4: 115,185,935 (GRCm39)	Y414*	probably null	Het
Dap3	A	T	3: 88,835,570 (GRCm39)	D256E	probably damaging	Het
Dmxl2	C	T	9: 54,381,156 (GRCm39)	S110N	probably benign	Het
Dnhd1	A	T	7: 105,343,986 (GRCm39)	I1777L	probably benign	Het
Ecel1	G	A	1: 87,076,349 (GRCm39)	Q717*	probably null	Het
Efcab3	T	G	11: 104,909,525 (GRCm39)		probably null	Het
Eif3j2	G	A	18: 43,610,699 (GRCm39)	T38M	possibly damaging	Het
Fat3	T	C	9: 16,287,864 (GRCm39)	H553R	probably benign	Het
Fcho2	T	C	13: 98,913,985 (GRCm39)	D204G	probably benign	Het
Gabra6	T	A	11: 42,205,959 (GRCm39)	Y299F	probably damaging	Het
Gak	G	A	5: 108,777,518 (GRCm39)		probably benign	Het
Gapdhs	T	A	7: 30,432,591 (GRCm39)	H214L	probably damaging	Het
Gapvd1	T	C	2: 34,568,110 (GRCm39)	Y1418C	probably damaging	Het
Gk5	C	A	9: 96,059,562 (GRCm39)	D471E	probably benign	Het
Glg1	A	G	8: 111,914,527 (GRCm39)	M419T	probably damaging	Het
H2ac25	T	A	11: 58,845,785 (GRCm39)	N74K	possibly damaging	Het
Ice1	T	C	13: 70,758,697 (GRCm39)	N215S	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifitm10	T	C	7: 141,882,300 (GRCm39)	N157D	probably benign	Het
Itga11	A	G	9: 62,676,545 (GRCm39)	D911G	possibly damaging	Het
Kcnt1	A	G	2: 25,784,338 (GRCm39)	N247S	probably benign	Het
Kirrel1	T	C	3: 86,997,173 (GRCm39)	T265A	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Kmt2b	T	G	7: 30,273,640 (GRCm39)	T2326P	probably damaging	Het
Lcn11	A	G	2: 25,669,265 (GRCm39)	S141G	probably benign	Het
Ldb3	T	C	14: 34,277,301 (GRCm39)	R358G	probably null	Het
Ldlr	G	A	9: 21,650,828 (GRCm39)	D446N	possibly damaging	Het
Lipt2	T	C	7: 99,809,449 (GRCm39)	F179L	probably damaging	Het
Lmbrd1	G	T	1: 24,745,121 (GRCm39)	V154F	possibly damaging	Het
Malrd1	A	G	2: 15,556,178 (GRCm39)	I99V		Het
Map1b	T	A	13: 99,570,735 (GRCm39)	E662V	unknown	Het
Mfsd11	T	C	11: 116,750,162 (GRCm39)	S100P	probably damaging	Het
Mgst1	C	T	6: 138,119,967 (GRCm39)		probably benign	Het
Mtf1	T	A	4: 124,698,649 (GRCm39)	V49D	probably damaging	Het
Mtss1	T	C	15: 58,826,986 (GRCm39)	D236G	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	T	A	11: 67,143,806 (GRCm39)	F1089I	possibly damaging	Het
Nrxn1	A	T	17: 90,897,615 (GRCm39)	I835K	probably damaging	Het
Nsd3	T	A	8: 26,163,394 (GRCm39)	S595T	probably damaging	Het
Nt5c2	A	T	19: 46,877,361 (GRCm39)	S527T	probably damaging	Het
Or52m1	T	C	7: 102,289,882 (GRCm39)	V143A	probably benign	Het
Or56b2	T	A	7: 104,337,900 (GRCm39)	L226*	probably null	Het
Or5k3	T	A	16: 58,969,319 (GRCm39)	Y35*	probably null	Het
Or7e175	A	T	9: 20,048,664 (GRCm39)	D84V	probably damaging	Het
Or8k28	C	A	2: 86,285,892 (GRCm39)	C241F	probably damaging	Het
Osbpl8	A	G	10: 111,108,053 (GRCm39)	S350G	probably benign	Het
Otoa	G	A	7: 120,744,741 (GRCm39)	W833*	probably null	Het
Pcdhga6	T	G	18: 37,841,540 (GRCm39)	I420S	probably damaging	Het
Pmfbp1	A	C	8: 110,258,433 (GRCm39)	M666L	probably benign	Het
Pola2	T	G	19: 5,998,452 (GRCm39)	D370A	probably damaging	Het
Ppip5k1	C	G	2: 121,153,701 (GRCm39)		probably benign	Het
Ppp1r12b	A	T	1: 134,762,200 (GRCm39)	D815E	probably benign	Het
Ppp4r3b	T	A	11: 29,155,669 (GRCm39)	V545E	possibly damaging	Het
Ptpn23	A	T	9: 110,221,568 (GRCm39)	N177K	probably damaging	Het
Rad9b	A	T	5: 122,482,293 (GRCm39)	S147R	probably benign	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Samd9l	C	T	6: 3,374,577 (GRCm39)	V895I	probably damaging	Het
Sbf2	T	A	7: 110,038,118 (GRCm39)	K396*	probably null	Het
Sbno2	G	T	10: 79,893,796 (GRCm39)	Q1198K	probably damaging	Het
Scp2d1	C	T	2: 144,665,886 (GRCm39)	T75I	probably damaging	Het
Shank3	T	A	15: 89,433,431 (GRCm39)	I1392N	possibly damaging	Het
Sidt1	A	G	16: 44,082,390 (GRCm39)	F532L	probably benign	Het
Smchd1	A	T	17: 71,755,752 (GRCm39)	V243D	probably damaging	Het
Smg1	T	C	7: 117,806,215 (GRCm39)	R185G	probably damaging	Het
Spag16	C	T	1: 70,036,004 (GRCm39)	S344F		Het
Spata31f3	G	T	4: 42,871,753 (GRCm39)	D207E	probably damaging	Het
Spsb3	A	G	17: 25,110,493 (GRCm39)	D440G	probably damaging	Het
Themis	A	C	10: 28,665,709 (GRCm39)	S591R	probably benign	Het
Trpm1	G	A	7: 63,858,089 (GRCm39)	V177I	probably damaging	Het
Usp37	A	G	1: 74,514,143 (GRCm39)		probably null	Het
Vmn1r171	C	T	7: 23,332,525 (GRCm39)	T238I	probably damaging	Het
Vmn2r33	T	C	7: 7,554,655 (GRCm39)	M633V	probably benign	Het
Vmn2r93	T	A	17: 18,546,252 (GRCm39)	L708H	probably damaging	Het
Vps35l	A	T	7: 118,393,801 (GRCm39)	T450S	possibly damaging	Het
Wdr53	T	A	16: 32,075,473 (GRCm39)	V226E	probably damaging	Het
Wdr62	T	A	7: 29,953,454 (GRCm39)	I193F	probably damaging	Het
Zfp607b	T	A	7: 27,403,387 (GRCm39)	D614E	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
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
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'- AGTTATGCACAGAAATGGCCC -3'
(R):5'- TCTTCTTGACACGGTGAAAGC -3'

Sequencing Primer
(F):5'- GCCCTAGCCTATTCCAGAAGG -3'
(R):5'- CACGGTGAAAGCTTTGGC -3'

Posted On

2021-08-31