Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Frmpd2'

656409

Institutional Source

Beutler Lab

Gene Symbol

Frmpd2

Ensembl Gene

ENSMUSG00000108841

Gene Name

FERM and PDZ domain containing 2

Synonyms

LOC268729, ENSMUSG00000071536, Frmpd2, LOC380890, Gm626

MMRRC Submission

045986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7940 (G1)

Quality Score

67.0074

Status

Validated

Chromosome

Chromosomal Location

33193653-33297226 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 33276850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1157 (R1157*)

Ref Sequence

ENSEMBL: ENSMUSP00000146693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208577]

AlphaFold

A0A140LI67

Predicted Effect

probably null
Transcript: ENSMUST00000208577
AA Change: R1157*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,767 (GRCm39)	M238T	probably benign	Het
Acacb	C	T	5: 114,304,108 (GRCm39)	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,902,597 (GRCm39)	V822A	probably damaging	Het
Alpk3	C	T	7: 80,743,693 (GRCm39)	P1170L	probably damaging	Het
Aox3	A	G	1: 58,227,596 (GRCm39)	I1234V	probably damaging	Het
Ascc1	G	A	10: 59,848,381 (GRCm39)	V103M	probably null	Het
Brca2	C	G	5: 150,462,198 (GRCm39)	T654S	probably benign	Het
Cblb	T	C	16: 51,972,899 (GRCm39)	F410S	probably damaging	Het
Cep95	T	A	11: 106,686,974 (GRCm39)	N94K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cpe	T	A	8: 65,047,945 (GRCm39)	S440C	probably damaging	Het
Cspg4	C	T	9: 56,795,381 (GRCm39)	Q1039*	probably null	Het
Cul5	A	T	9: 53,535,069 (GRCm39)	S612T	probably benign	Het
Dapl1	T	C	2: 59,315,112 (GRCm39)		probably null	Het
Deptor	C	T	15: 55,072,244 (GRCm39)	T241M	probably benign	Het
Dnaaf1	A	G	8: 120,309,454 (GRCm39)	T181A	possibly damaging	Het
Dnajc11	G	T	4: 152,053,045 (GRCm39)	Q156H	probably benign	Het
Dst	T	C	1: 34,206,757 (GRCm39)	V975A	possibly damaging	Het
Elf3	T	A	1: 135,184,866 (GRCm39)	S107C	probably damaging	Het
Enpp2	T	A	15: 54,770,324 (GRCm39)	D105V	probably damaging	Het
Fgd6	G	A	10: 93,956,344 (GRCm39)	V1008I	probably benign	Het
Gabrg2	A	C	11: 41,858,474 (GRCm39)	V218G	probably benign	Het
Gdpgp1	C	T	7: 79,888,953 (GRCm39)	A328V	probably damaging	Het
Glis1	C	G	4: 107,489,571 (GRCm39)	F719L	probably damaging	Het
Glis1	A	T	4: 107,489,572 (GRCm39)	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,146,107 (GRCm39)	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,458,592 (GRCm39)	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,734,055 (GRCm39)		probably benign	Het
Kctd14	T	C	7: 97,106,891 (GRCm39)	S49P	probably damaging	Het
Lamc2	T	A	1: 153,006,521 (GRCm39)	K877*	probably null	Het
Lgr4	T	A	2: 109,836,858 (GRCm39)	S397R	probably damaging	Het
Lrp2	A	T	2: 69,262,541 (GRCm39)	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089 (GRCm39)	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,463,359 (GRCm39)	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,901,808 (GRCm39)	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,363,095 (GRCm39)	A247S	possibly damaging	Het
Or52b4i	G	A	7: 102,191,515 (GRCm39)	R124H	possibly damaging	Het
Or8c15	T	C	9: 38,120,496 (GRCm39)	V47A	probably benign	Het
Pabir1	G	A	19: 24,454,552 (GRCm39)	R57W	probably benign	Het
Pakap	A	G	4: 57,883,026 (GRCm39)	K790E	probably damaging	Het
Pcdh15	G	A	10: 74,430,022 (GRCm39)	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,153,409 (GRCm39)	T43S	probably damaging	Het
Pkn2	G	A	3: 142,516,480 (GRCm39)	R549C	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Polq	T	A	16: 36,881,004 (GRCm39)	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,803,793 (GRCm39)	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,166,258 (GRCm39)	M1L	possibly damaging	Het
Rspry1	G	T	8: 95,349,635 (GRCm39)	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,436,666 (GRCm39)	V249A	probably damaging	Het
Smok2b	A	T	17: 13,455,046 (GRCm39)	H402L	possibly damaging	Het
Supt20	A	T	3: 54,620,620 (GRCm39)	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,528,993 (GRCm39)	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,274,798 (GRCm39)	Y353C	probably damaging	Het
Usp24	A	T	4: 106,287,741 (GRCm39)	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,605,946 (GRCm39)	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,188 (GRCm39)	N205K	possibly damaging	Het
Xkr7	C	A	2: 152,874,135 (GRCm39)	F67L	probably damaging	Het
Zfp473	T	G	7: 44,384,000 (GRCm39)	E111A	probably damaging	Het
Zfp74	T	C	7: 29,631,867 (GRCm39)	K126E	probably benign	Het

Other mutations in Frmpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
D4216:Frmpd2	UTSW	14	33,274,014 (GRCm39)	missense	probably damaging	0.97
FR4304:Frmpd2	UTSW	14	33,232,978 (GRCm39)	missense	probably damaging	1.00
FR4340:Frmpd2	UTSW	14	33,232,978 (GRCm39)	missense	probably damaging	1.00
FR4342:Frmpd2	UTSW	14	33,232,978 (GRCm39)	missense	probably damaging	1.00
FR4589:Frmpd2	UTSW	14	33,232,978 (GRCm39)	missense	probably damaging	1.00
R6091:Frmpd2	UTSW	14	33,244,820 (GRCm39)	missense	probably damaging	0.98
R6266:Frmpd2	UTSW	14	33,287,864 (GRCm39)	missense	probably benign	0.03
R6562:Frmpd2	UTSW	14	33,293,872 (GRCm39)	missense	probably benign	0.22
R7138:Frmpd2	UTSW	14	33,293,761 (GRCm39)	missense	probably benign	0.01
R7220:Frmpd2	UTSW	14	33,229,432 (GRCm39)	missense	probably damaging	1.00
R7239:Frmpd2	UTSW	14	33,274,034 (GRCm39)	missense	probably benign	0.00
R7269:Frmpd2	UTSW	14	33,244,838 (GRCm39)	missense	possibly damaging	0.93
R7412:Frmpd2	UTSW	14	33,293,926 (GRCm39)	missense	probably benign	0.00
R7432:Frmpd2	UTSW	14	33,229,510 (GRCm39)	missense	probably damaging	1.00
R7635:Frmpd2	UTSW	14	33,222,920 (GRCm39)	missense	possibly damaging	0.68
R7699:Frmpd2	UTSW	14	33,264,895 (GRCm39)	missense	probably benign
R7938:Frmpd2	UTSW	14	33,260,246 (GRCm39)	missense	probably benign	0.02
R8134:Frmpd2	UTSW	14	33,227,452 (GRCm39)	missense	probably benign	0.02
R8152:Frmpd2	UTSW	14	33,265,244 (GRCm39)	splice site	probably null
R8232:Frmpd2	UTSW	14	33,261,724 (GRCm39)	missense	probably damaging	1.00
R8261:Frmpd2	UTSW	14	33,224,934 (GRCm39)	missense	probably benign	0.23
R8304:Frmpd2	UTSW	14	33,274,066 (GRCm39)	missense	possibly damaging	0.55
R8326:Frmpd2	UTSW	14	33,232,992 (GRCm39)	missense	probably damaging	1.00
R8410:Frmpd2	UTSW	14	33,217,624 (GRCm39)	missense	probably damaging	0.99
R8851:Frmpd2	UTSW	14	33,217,643 (GRCm39)	missense	probably damaging	1.00
R8907:Frmpd2	UTSW	14	33,248,380 (GRCm39)	missense	probably damaging	1.00
R9100:Frmpd2	UTSW	14	33,252,407 (GRCm39)	missense	probably benign	0.01
R9428:Frmpd2	UTSW	14	33,272,010 (GRCm39)	missense	probably damaging	0.98
R9468:Frmpd2	UTSW	14	33,266,432 (GRCm39)	missense	possibly damaging	0.88
R9502:Frmpd2	UTSW	14	33,227,404 (GRCm39)	missense	probably benign	0.00
Z1177:Frmpd2	UTSW	14	33,252,462 (GRCm39)	nonsense	probably null
Z1177:Frmpd2	UTSW	14	33,252,461 (GRCm39)	missense	probably damaging	0.99
Z1177:Frmpd2	UTSW	14	33,252,408 (GRCm39)	missense	possibly damaging	0.87
Z1177:Frmpd2	UTSW	14	33,264,983 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGATACTGTTCCTGGCTCTTG -3'
(R):5'- TCCTATCCCCATGACAAGGG -3'

Sequencing Primer
(F):5'- TGGGGAGTTAAGCTTACAGC -3'
(R):5'- AAGGGCTATTATTGAGCCCC -3'

Posted On

2020-11-06