Incidental Mutation 'R5050:Fhip2a'
ID 394623
Institutional Source Beutler Lab
Gene Symbol Fhip2a
Ensembl Gene ENSMUSG00000033478
Gene Name FHF complex subunit HOOK interacting protein 2A
Synonyms Fam160b1
MMRRC Submission 042640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5050 (G1)
Quality Score 108
Status Validated
Chromosome 19
Chromosomal Location 57349355-57378026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57371602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 571 (F571L)
Ref Sequence ENSEMBL: ENSMUSP00000048903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036407]
AlphaFold Q8CDM8
Predicted Effect probably damaging
Transcript: ENSMUST00000036407
AA Change: F571L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: F571L

DomainStartEndE-ValueType
Pfam:RAI16-like 78 495 1.1e-144 PFAM
low complexity region 713 724 N/A INTRINSIC
Meta Mutation Damage Score 0.4093 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,989,822 (GRCm39) probably benign Het
Ap3m1 A G 14: 21,094,843 (GRCm39) I108T probably benign Het
Apobec1 T C 6: 122,568,061 (GRCm39) M1V probably null Het
Aqr A T 2: 113,943,090 (GRCm39) L1161* probably null Het
Aqr A T 2: 114,000,506 (GRCm39) probably null Het
Arhgef37 A G 18: 61,637,402 (GRCm39) I420T probably benign Het
Cacna1g C T 11: 94,350,541 (GRCm39) E435K probably damaging Het
Card6 G T 15: 5,129,858 (GRCm39) H513N probably benign Het
Ccdc158 A C 5: 92,814,738 (GRCm39) F29L probably benign Het
Ccr6 T C 17: 8,474,936 (GRCm39) L47S probably damaging Het
Cdc42bpa T A 1: 179,900,018 (GRCm39) Y444* probably null Het
Cdh17 A G 4: 11,784,654 (GRCm39) Y270C probably damaging Het
Cdh9 T C 15: 16,778,233 (GRCm39) F16S probably benign Het
Cdkl1 T C 12: 69,804,014 (GRCm39) K141R probably damaging Het
Cfhr4 T A 1: 139,664,578 (GRCm39) I494F probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Dhrs7 T A 12: 72,704,184 (GRCm39) D104V probably damaging Het
Dhtkd1 A T 2: 5,922,500 (GRCm39) L553Q probably benign Het
Dnah7a T G 1: 53,536,255 (GRCm39) D2596A probably benign Het
Dync1li2 T C 8: 105,164,073 (GRCm39) K151E probably damaging Het
Eno4 C T 19: 58,943,928 (GRCm39) H297Y probably benign Het
Epg5 T A 18: 78,019,156 (GRCm39) D976E possibly damaging Het
Gm4553 C A 7: 141,718,773 (GRCm39) K218N unknown Het
Gpld1 A T 13: 25,146,739 (GRCm39) T234S probably benign Het
Gtpbp6 A T 5: 110,252,567 (GRCm39) probably benign Het
Gucy2g T C 19: 55,229,367 (GRCm39) E101G probably benign Het
Gvin3 T C 7: 106,196,179 (GRCm39) noncoding transcript Het
Hira G A 16: 18,744,609 (GRCm39) R442K possibly damaging Het
Hrh3 A G 2: 179,742,350 (GRCm39) L394P probably damaging Het
Igkv1-110 T A 6: 68,248,176 (GRCm39) F95Y probably damaging Het
Iqgap3 T G 3: 87,997,493 (GRCm39) V223G probably damaging Het
Itpk1 T C 12: 102,671,069 (GRCm39) T3A probably damaging Het
Jag1 A G 2: 136,927,074 (GRCm39) V895A possibly damaging Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Large2 A T 2: 92,198,124 (GRCm39) L282Q probably benign Het
Lgmn A G 12: 102,369,680 (GRCm39) probably null Het
Lrp4 A T 2: 91,322,767 (GRCm39) I1119F probably benign Het
Map3k19 T C 1: 127,751,299 (GRCm39) H684R probably benign Het
Mier3 C T 13: 111,851,107 (GRCm39) A367V possibly damaging Het
Mpdz A G 4: 81,213,685 (GRCm39) V1579A probably benign Het
Mroh2b A T 15: 4,929,932 (GRCm39) D6V possibly damaging Het
Myh7b A G 2: 155,473,670 (GRCm39) I1568V probably benign Het
Or52e8b T A 7: 104,673,594 (GRCm39) I198F probably damaging Het
Plch2 C T 4: 155,127,766 (GRCm39) probably benign Het
Plek T C 11: 16,945,216 (GRCm39) D38G probably damaging Het
Polr2f A G 15: 79,028,862 (GRCm39) probably benign Het
Samsn1 A G 16: 75,685,645 (GRCm39) S38P probably benign Het
Sf1 C T 19: 6,422,589 (GRCm39) T248I probably damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Sharpin A T 15: 76,232,530 (GRCm39) L160H probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Syn3 T C 10: 86,243,532 (GRCm39) T136A probably benign Het
Tcam1 G A 11: 106,176,278 (GRCm39) V335M possibly damaging Het
Tedc1 G T 12: 113,120,325 (GRCm39) V56L possibly damaging Het
Tenm4 T C 7: 96,544,995 (GRCm39) L2337P probably damaging Het
Ttn G A 2: 76,715,155 (GRCm39) probably benign Het
Tysnd1 T A 10: 61,532,050 (GRCm39) I234N probably damaging Het
Vmn2r51 T C 7: 9,834,349 (GRCm39) K230E probably damaging Het
Other mutations in Fhip2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Fhip2a APN 19 57,369,777 (GRCm39) missense probably benign 0.00
IGL02642:Fhip2a APN 19 57,373,782 (GRCm39) missense possibly damaging 0.55
IGL03152:Fhip2a APN 19 57,367,264 (GRCm39) missense probably damaging 0.99
fredericksburg UTSW 19 57,372,555 (GRCm39) nonsense probably null
williamsburg UTSW 19 57,372,697 (GRCm39) critical splice donor site probably null
R0001:Fhip2a UTSW 19 57,370,188 (GRCm39) missense probably benign 0.01
R0123:Fhip2a UTSW 19 57,369,839 (GRCm39) missense probably benign 0.00
R0368:Fhip2a UTSW 19 57,357,010 (GRCm39) missense possibly damaging 0.91
R0446:Fhip2a UTSW 19 57,369,839 (GRCm39) missense probably benign 0.00
R0508:Fhip2a UTSW 19 57,367,174 (GRCm39) missense probably benign 0.04
R0926:Fhip2a UTSW 19 57,369,522 (GRCm39) missense probably damaging 1.00
R1122:Fhip2a UTSW 19 57,370,733 (GRCm39) missense probably benign 0.00
R1344:Fhip2a UTSW 19 57,359,594 (GRCm39) missense possibly damaging 0.72
R1398:Fhip2a UTSW 19 57,361,358 (GRCm39) splice site probably benign
R1418:Fhip2a UTSW 19 57,359,594 (GRCm39) missense possibly damaging 0.72
R1506:Fhip2a UTSW 19 57,357,007 (GRCm39) missense probably benign 0.30
R1530:Fhip2a UTSW 19 57,374,737 (GRCm39) missense probably damaging 0.99
R1695:Fhip2a UTSW 19 57,367,603 (GRCm39) missense probably damaging 1.00
R1868:Fhip2a UTSW 19 57,374,737 (GRCm39) missense possibly damaging 0.75
R1974:Fhip2a UTSW 19 57,373,809 (GRCm39) missense probably damaging 0.99
R2004:Fhip2a UTSW 19 57,370,324 (GRCm39) missense probably benign
R2893:Fhip2a UTSW 19 57,372,601 (GRCm39) missense probably benign 0.01
R3011:Fhip2a UTSW 19 57,373,720 (GRCm39) missense probably damaging 1.00
R3963:Fhip2a UTSW 19 57,361,442 (GRCm39) missense possibly damaging 0.77
R4416:Fhip2a UTSW 19 57,373,829 (GRCm39) splice site probably null
R4613:Fhip2a UTSW 19 57,359,619 (GRCm39) missense probably damaging 0.99
R4735:Fhip2a UTSW 19 57,359,661 (GRCm39) missense probably damaging 1.00
R4893:Fhip2a UTSW 19 57,370,188 (GRCm39) missense probably benign 0.01
R4937:Fhip2a UTSW 19 57,367,069 (GRCm39) missense probably benign
R5049:Fhip2a UTSW 19 57,374,737 (GRCm39) missense possibly damaging 0.75
R5080:Fhip2a UTSW 19 57,361,713 (GRCm39) missense probably damaging 1.00
R5176:Fhip2a UTSW 19 57,359,613 (GRCm39) missense probably damaging 0.98
R5317:Fhip2a UTSW 19 57,370,141 (GRCm39) splice site probably null
R5347:Fhip2a UTSW 19 57,367,051 (GRCm39) missense probably benign
R5497:Fhip2a UTSW 19 57,369,583 (GRCm39) splice site probably null
R5969:Fhip2a UTSW 19 57,372,555 (GRCm39) nonsense probably null
R6418:Fhip2a UTSW 19 57,370,166 (GRCm39) missense probably benign 0.18
R6426:Fhip2a UTSW 19 57,371,610 (GRCm39) missense probably damaging 1.00
R6765:Fhip2a UTSW 19 57,367,177 (GRCm39) missense probably benign
R7472:Fhip2a UTSW 19 57,357,017 (GRCm39) missense probably damaging 1.00
R7583:Fhip2a UTSW 19 57,367,034 (GRCm39) missense probably benign 0.01
R7672:Fhip2a UTSW 19 57,373,750 (GRCm39) missense possibly damaging 0.95
R8159:Fhip2a UTSW 19 57,372,697 (GRCm39) critical splice donor site probably null
R8510:Fhip2a UTSW 19 57,370,752 (GRCm39) missense probably benign 0.16
R9060:Fhip2a UTSW 19 57,361,450 (GRCm39) missense probably damaging 0.99
R9214:Fhip2a UTSW 19 57,373,756 (GRCm39) missense probably damaging 0.99
R9233:Fhip2a UTSW 19 57,369,098 (GRCm39) missense probably damaging 1.00
R9689:Fhip2a UTSW 19 57,369,710 (GRCm39) missense probably benign 0.01
X0023:Fhip2a UTSW 19 57,372,579 (GRCm39) nonsense probably null
X0062:Fhip2a UTSW 19 57,373,689 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTTAACTTAATCTGAGGGC -3'
(R):5'- CAGGTGAACCTACGCCTTTC -3'

Sequencing Primer
(F):5'- GCAGAGGCCATTTATCAAAATCCG -3'
(R):5'- CTCTGCAGTCAGGGTTGC -3'
Posted On 2016-06-15