Incidental Mutation 'R6765:Fhip2a'
ID 531895
Institutional Source Beutler Lab
Gene Symbol Fhip2a
Ensembl Gene ENSMUSG00000033478
Gene Name FHF complex subunit HOOK interacting protein 2A
Synonyms Fam160b1
MMRRC Submission 044881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R6765 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 57349355-57378026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57367177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 240 (D240G)
Ref Sequence ENSEMBL: ENSMUSP00000048903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036407]
AlphaFold Q8CDM8
Predicted Effect probably benign
Transcript: ENSMUST00000036407
AA Change: D240G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: D240G

DomainStartEndE-ValueType
Pfam:RAI16-like 78 495 1.1e-144 PFAM
low complexity region 713 724 N/A INTRINSIC
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Arid4b T A 13: 14,361,900 (GRCm39) M788K possibly damaging Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Psmd5 A C 2: 34,746,545 (GRCm39) M344R probably benign Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Sclt1 T C 3: 41,685,337 (GRCm39) R39G unknown Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vps26b T C 9: 26,924,104 (GRCm39) E213G probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign 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
R5050:Fhip2a UTSW 19 57,371,602 (GRCm39) missense probably damaging 1.00
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
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'- AGAGGAGCTCTGAGTGTCATC -3'
(R):5'- AAGAACGCACACGGAACTTGTC -3'

Sequencing Primer
(F):5'- AGTGTCATCTCAGAGGATGGCC -3'
(R):5'- GCACACGGAACTTGTCAAATTC -3'
Posted On 2018-08-29