Mutagenetix > Incidental Mutation

Incidental Mutation 'R3876:Frmpd1'

276836

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

041606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45284093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 971 (H971Q)

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: H971Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: H971Q

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: H971Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: H971Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,828,857 (GRCm39)	R215*	probably null	Het
Brinp2	C	A	1: 158,074,416 (GRCm39)	L568F	probably damaging	Het
Brip1	T	C	11: 86,043,616 (GRCm39)	Y316C	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cfap69	G	T	5: 5,634,645 (GRCm39)		probably benign	Het
Chrnb4	T	C	9: 54,951,182 (GRCm39)	E27G	probably damaging	Het
Clec14a	A	G	12: 58,315,430 (GRCm39)	V64A	possibly damaging	Het
Crygs	A	G	16: 22,625,262 (GRCm39)	Y60H	probably damaging	Het
Dpp10	T	A	1: 123,281,216 (GRCm39)	Q611L	probably damaging	Het
Entpd1	T	C	19: 40,725,264 (GRCm39)	L450P	probably damaging	Het
Eogt	G	A	6: 97,097,151 (GRCm39)	S317L	probably damaging	Het
Exosc10	T	A	4: 148,657,376 (GRCm39)	S584T	probably benign	Het
Fam184a	C	T	10: 53,575,157 (GRCm39)	V151I	probably damaging	Het
Fbxo43	A	G	15: 36,152,258 (GRCm39)	V517A	probably damaging	Het
Flii	T	C	11: 60,610,698 (GRCm39)	T533A	possibly damaging	Het
Gata3	A	T	2: 9,867,954 (GRCm39)	N333K	probably damaging	Het
Hectd1	A	G	12: 51,815,513 (GRCm39)	S1525P	probably damaging	Het
Ibtk	A	G	9: 85,600,479 (GRCm39)	I816T	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt34	T	C	11: 99,931,791 (GRCm39)	T143A	probably benign	Het
Lipn	G	T	19: 34,046,828 (GRCm39)	M43I	probably benign	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Mios	G	A	6: 8,233,189 (GRCm39)	R779Q	probably damaging	Het
Mme	A	T	3: 63,269,480 (GRCm39)		probably benign	Het
Ncstn	A	G	1: 171,897,640 (GRCm39)	S418P	probably benign	Het
Oprk1	T	A	1: 5,672,884 (GRCm39)	C340*	probably null	Het
Or10d1c	T	A	9: 38,894,166 (GRCm39)	Y58F	probably damaging	Het
Or4c29	T	C	2: 88,739,952 (GRCm39)	T262A	possibly damaging	Het
Or4k39	T	C	2: 111,238,967 (GRCm39)	V69A	possibly damaging	Het
Or6c210	C	T	10: 129,496,143 (GRCm39)	P156L	probably benign	Het
Or6z7	G	A	7: 6,484,131 (GRCm39)	A8V	probably benign	Het
Pald1	T	A	10: 61,183,266 (GRCm39)	N323Y	probably damaging	Het
Pcdhac1	C	A	18: 37,224,945 (GRCm39)	A586E	probably damaging	Het
Pcnx2	C	T	8: 126,614,897 (GRCm39)	A185T	probably benign	Het
Pik3r1	G	A	13: 101,821,465 (GRCm39)	H430Y	probably benign	Het
Polr3b	G	A	10: 84,556,382 (GRCm39)		probably null	Het
Prl8a6	A	T	13: 27,617,015 (GRCm39)	L225*	probably null	Het
Psme4	T	C	11: 30,806,068 (GRCm39)	S89P	probably damaging	Het
Pygl	G	A	12: 70,248,113 (GRCm39)	T250I	probably damaging	Het
Rgs13	T	A	1: 144,016,528 (GRCm39)	K72*	probably null	Het
Ryr2	T	A	13: 11,603,045 (GRCm39)	I4514F	probably damaging	Het
Septin3	A	T	15: 82,170,002 (GRCm39)	D32V	probably damaging	Het
Sfrp2	C	T	3: 83,674,335 (GRCm39)	P163S	possibly damaging	Het
Spata31	A	G	13: 65,068,745 (GRCm39)	T298A	probably benign	Het
Stxbp2	T	C	8: 3,683,369 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,002,345 (GRCm39)	M282K	possibly damaging	Het
Timd2	T	C	11: 46,561,847 (GRCm39)		probably null	Het
Tlr11	G	A	14: 50,600,611 (GRCm39)	V866I	probably benign	Het
Trappc10	T	C	10: 78,056,020 (GRCm39)		probably null	Het
Zfp512b	AG	AGG	2: 181,230,556 (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
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'- AATCCAGCCTCCAGGATCATGG -3'
(R):5'- GAGCCTATTTCTGACCGCAC -3'

Sequencing Primer
(F):5'- CAGCCTCCAGGATCATGGAGATG -3'
(R):5'- CAGCTCTGATGTGTCTCCTTGAGAG -3'

Posted On

2015-04-06