Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Frmpd2'

632192

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

067562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33193653-33297226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33227452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 277 (S277P)

Ref Sequence

ENSEMBL: ENSMUSP00000146693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208577] [ENSMUST00000208853]

AlphaFold

A0A140LI67

Predicted Effect

probably benign
Transcript: ENSMUST00000208577
AA Change: S277P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000208853

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,425,982 (GRCm39)	P265L	probably benign	Het
Adam20	A	G	8: 41,249,101 (GRCm39)	T404A	probably benign	Het
Anp32a	G	T	9: 62,284,863 (GRCm39)	R237L	unknown	Het
Ascc3	A	G	10: 50,643,554 (GRCm39)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,590,220 (GRCm39)		probably null	Het
Bard1	A	T	1: 71,106,297 (GRCm39)	N443K	probably damaging	Het
Btnl1	A	G	17: 34,604,647 (GRCm39)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,067,711 (GRCm39)	I487F		Het
Cadm4	A	G	7: 24,203,030 (GRCm39)	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,648,075 (GRCm39)	K128E	probably benign	Het
Casz1	C	T	4: 149,027,492 (GRCm39)	P1005S	probably damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Cfap54	A	T	10: 92,714,378 (GRCm39)	V2667D	unknown	Het
Col11a1	A	G	3: 114,012,435 (GRCm39)	K1792E	unknown	Het
Cpne9	A	T	6: 113,272,003 (GRCm39)	D377V	probably benign	Het
Csmd1	A	T	8: 15,982,550 (GRCm39)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,651,391 (GRCm39)	V222A	probably benign	Het
Herc2	C	T	7: 55,734,884 (GRCm39)	T158I	probably benign	Het
Hoxa4	G	T	6: 52,167,537 (GRCm39)	H215N	possibly damaging	Het
Hpd	G	T	5: 123,312,443 (GRCm39)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,626,452 (GRCm39)	T159A	probably damaging	Het
Ints10	T	A	8: 69,255,638 (GRCm39)	Y209*	probably null	Het
Ints2	A	G	11: 86,103,486 (GRCm39)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,872,188 (GRCm39)	V107A	probably null	Het
Kdm4d	C	T	9: 14,374,532 (GRCm39)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,413,756 (GRCm39)	Y134C	probably benign	Het
Klb	A	T	5: 65,540,958 (GRCm39)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,481,285 (GRCm39)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,503,047 (GRCm39)	I423M	probably damaging	Het
Magi2	T	G	5: 20,596,365 (GRCm39)	F274L	probably damaging	Het
Magi2	T	A	5: 20,596,392 (GRCm39)	D283E	probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Meis2	C	T	2: 115,697,369 (GRCm39)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,615,613 (GRCm39)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,710,585 (GRCm39)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,792,234 (GRCm39)	C763Y	probably benign	Het
Numa1	T	C	7: 101,650,834 (GRCm39)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,247,680 (GRCm39)	I153N	possibly damaging	Het
Or2bd2	T	C	7: 6,441,922 (GRCm39)		probably benign	Het
Pcdhgc3	G	A	18: 37,939,916 (GRCm39)	V106I	probably benign	Het
Phf3	A	G	1: 30,863,552 (GRCm39)	V152A	unknown	Het
Pira1	A	G	7: 3,738,838 (GRCm39)	S590P	probably damaging	Het
Plcg2	A	T	8: 118,284,057 (GRCm39)	D118V	probably damaging	Het
Pnpla1	A	G	17: 29,097,443 (GRCm39)	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,672,888 (GRCm39)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rrs1	C	T	1: 9,615,645 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,592 (GRCm39)	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157 (GRCm39)		probably null	Het
Sun3	G	T	11: 8,979,346 (GRCm39)	D118E	probably benign	Het
Svop	C	T	5: 114,180,992 (GRCm39)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,937,064 (GRCm39)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,198,381 (GRCm39)	D116E	probably benign	Het
Ube2z	A	G	11: 95,949,200 (GRCm39)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,462,797 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,631,718 (GRCm39)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,003,166 (GRCm39)	V92E	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
R7940:Frmpd2	UTSW	14	33,276,850 (GRCm39)	nonsense	probably null
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'- TCTGAGGGTCTTAGCTTCACC -3'
(R):5'- TCTGTCAGCTCAGGTTTCTG -3'

Sequencing Primer
(F):5'- TGAGGGTCTTAGCTTCACCAACAC -3'
(R):5'- AGGGTCCCTGTGTCCTGAAG -3'

Posted On

2020-06-30