Incidental Mutation 'R8134:Frmpd2'
ID632192
Institutional Source Beutler Lab
Gene Symbol Frmpd2
Ensembl Gene ENSMUSG00000108841
Gene NameFERM and PDZ domain containing 2
SynonymsGm626, Frmpd2, LOC380890, ENSMUSG00000071536, LOC268729
Accession Numbers

Genbank: XM_001481294; MGI: 2685472

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8134 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location33471696-33575269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33505495 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 277 (S277P)
Ref Sequence ENSEMBL: ENSMUSP00000146693 (fasta)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 G A 8: 79,699,353 P265L probably benign Het
Adam20 A G 8: 40,796,064 T404A probably benign Het
Anp32a G T 9: 62,377,581 R237L unknown Het
Ascc3 A G 10: 50,767,458 D1835G probably benign Het
Atg9b A G 5: 24,385,222 probably null Het
Bard1 A T 1: 71,067,138 N443K probably damaging Het
Btnl1 A G 17: 34,385,673 D476G possibly damaging Het
C2cd3 A T 7: 100,418,504 I487F Het
Cadm4 A G 7: 24,503,605 E384G possibly damaging Het
Camsap3 A G 8: 3,598,075 K128E probably benign Het
Casz1 C T 4: 148,943,035 P1005S probably damaging Het
Cd38 C A 5: 43,901,448 L135M probably damaging Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Cfap54 A T 10: 92,878,516 V2667D unknown Het
Col11a1 A G 3: 114,218,786 K1792E unknown Het
Cpne9 A T 6: 113,295,042 D377V probably benign Het
Csmd1 A T 8: 15,932,550 C2706S probably damaging Het
Ctnnbl1 T C 2: 157,809,471 V222A probably benign Het
Gm15922 A G 7: 3,735,839 S590P probably damaging Het
Herc2 C T 7: 56,085,136 T158I probably benign Het
Hoxa4 G T 6: 52,190,557 H215N possibly damaging Het
Hpd G T 5: 123,174,380 Q309K probably benign Het
Il20ra A G 10: 19,750,704 T159A probably damaging Het
Ints10 T A 8: 68,802,986 Y209* probably null Het
Ints2 A G 11: 86,212,660 I1190T probably damaging Het
Jhy A G 9: 40,960,892 V107A probably null Het
Kdm4d C T 9: 14,463,236 R442H probably damaging Het
Kif1bp T C 10: 62,577,977 Y134C probably benign Het
Klb A T 5: 65,383,615 H1017L probably benign Het
Kndc1 T A 7: 139,901,369 probably null Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,627,834 probably benign Het
Lrrn3 T C 12: 41,453,048 I423M probably damaging Het
Magi2 T G 5: 20,391,367 F274L probably damaging Het
Magi2 T A 5: 20,391,394 D283E probably benign Het
Map3k19 A C 1: 127,823,755 S620A probably damaging Het
Meis2 C T 2: 115,866,888 M388I probably benign Het
Ms4a3 G C 19: 11,638,249 H54Q probably benign Het
Nfe2l1 A T 11: 96,819,759 M548K possibly damaging Het
Ninl C T 2: 150,950,314 C763Y probably benign Het
Numa1 T C 7: 102,001,627 F1522L probably benign Het
Olfr1344 T C 7: 6,438,923 probably benign Het
Olfr539 T A 7: 140,667,767 I153N possibly damaging Het
Pcdhgc3 G A 18: 37,806,863 V106I probably benign Het
Phf3 A G 1: 30,824,471 V152A unknown Het
Plcg2 A T 8: 117,557,318 D118V probably damaging Het
Pnpla1 A G 17: 28,878,469 D203G probably damaging Het
Ppip5k2 A T 1: 97,745,163 M474K probably benign Het
Ppp1r12b T C 1: 134,886,542 E341G possibly damaging Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Rrs1 C T 1: 9,545,420 probably benign Het
Scaf11 T C 15: 96,420,711 N324S probably damaging Het
Spaca1 T A 4: 34,042,157 probably null Het
Sun3 G T 11: 9,029,346 D118E probably benign Het
Svop C T 5: 114,042,931 V215I probably benign Het
Tbc1d15 A T 10: 115,209,569 C497S probably damaging Het
Tdrd6 A T 17: 43,626,173 I1328N probably damaging Het
Tuba8 T A 6: 121,221,422 D116E probably benign Het
Ube2z A G 11: 96,058,374 I213T possibly damaging Het
Ubqln4 G A 3: 88,555,490 probably null Het
Vps13a A G 19: 16,654,354 I2639T possibly damaging Het
Zfp217 G A 2: 170,119,651 S252F possibly damaging Het
Zfp94 A T 7: 24,303,741 V92E probably benign Het
Other mutations in Frmpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
D4216:Frmpd2 UTSW 14 33552057 missense probably damaging 0.97
FR4304:Frmpd2 UTSW 14 33511021 missense probably damaging 1.00
FR4340:Frmpd2 UTSW 14 33511021 missense probably damaging 1.00
FR4342:Frmpd2 UTSW 14 33511021 missense probably damaging 1.00
FR4589:Frmpd2 UTSW 14 33511021 missense probably damaging 1.00
R6091:Frmpd2 UTSW 14 33522863 missense probably damaging 0.98
R6266:Frmpd2 UTSW 14 33565907 missense probably benign 0.03
R6562:Frmpd2 UTSW 14 33571915 missense probably benign 0.22
R7138:Frmpd2 UTSW 14 33571804 missense probably benign 0.01
R7220:Frmpd2 UTSW 14 33507475 missense probably damaging 1.00
R7239:Frmpd2 UTSW 14 33552077 missense probably benign 0.00
R7269:Frmpd2 UTSW 14 33522881 missense possibly damaging 0.93
R7412:Frmpd2 UTSW 14 33571969 missense probably benign 0.00
R7432:Frmpd2 UTSW 14 33507553 missense probably damaging 1.00
R7635:Frmpd2 UTSW 14 33500963 missense possibly damaging 0.68
R7699:Frmpd2 UTSW 14 33542938 missense probably benign
R7938:Frmpd2 UTSW 14 33538289 missense probably benign 0.02
R8152:Frmpd2 UTSW 14 33543287 intron probably null
R8326:Frmpd2 UTSW 14 33511035 missense probably damaging 1.00
Z1177:Frmpd2 UTSW 14 33530451 missense possibly damaging 0.87
Z1177:Frmpd2 UTSW 14 33530504 missense probably damaging 0.99
Z1177:Frmpd2 UTSW 14 33530505 nonsense probably null
Z1177:Frmpd2 UTSW 14 33543026 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 On2020-06-30