Incidental Mutation 'R6665:Fhip2b'
ID 526948
Institutional Source Beutler Lab
Gene Symbol Fhip2b
Ensembl Gene ENSMUSG00000022095
Gene Name FHF complex subunit HOOK interacting protein 2B
Synonyms G430067P06Rik, Fam160b2, Rai16
MMRRC Submission 044785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6665 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70820736-70837275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70823078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 659 (L659Q)
Ref Sequence ENSEMBL: ENSMUSP00000022690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022690] [ENSMUST00000089049] [ENSMUST00000228554]
AlphaFold Q80YR2
Predicted Effect probably damaging
Transcript: ENSMUST00000022690
AA Change: L659Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: L659Q

DomainStartEndE-ValueType
Pfam:RAI16-like 79 477 7.7e-112 PFAM
low complexity region 516 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089049
SMART Domains Protein: ENSMUSP00000086450
Gene: ENSMUSG00000045211

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:NUDIX 44 165 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228554
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,815,775 (GRCm39) probably null Het
Adamts16 T G 13: 70,927,689 (GRCm39) K517Q probably damaging Het
Atp9b A C 18: 80,960,950 (GRCm39) V87G probably benign Het
Avil A G 10: 126,856,394 (GRCm39) K808E probably damaging Het
Bin2 T C 15: 100,554,676 (GRCm39) E49G probably damaging Het
Ccdc146 T C 5: 21,508,092 (GRCm39) Y652C probably damaging Het
Cd6 T C 19: 10,768,367 (GRCm39) N541D probably benign Het
Col28a1 A G 6: 8,062,277 (GRCm39) V671A probably benign Het
Dock6 C T 9: 21,751,208 (GRCm39) C355Y probably damaging Het
Dsc2 A G 18: 20,183,205 (GRCm39) F71S probably damaging Het
Dusp8 G A 7: 141,643,842 (GRCm39) P24S probably damaging Het
Dysf A G 6: 84,107,098 (GRCm39) Y1151C probably benign Het
Frem2 T C 3: 53,562,077 (GRCm39) Y810C probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hexb T C 13: 97,315,893 (GRCm39) N380D probably benign Het
Ice1 T C 13: 70,751,592 (GRCm39) E1498G possibly damaging Het
Lrif1 T A 3: 106,642,659 (GRCm39) probably null Het
Myo9a G T 9: 59,779,155 (GRCm39) G1637V probably benign Het
Myod1 A T 7: 46,026,281 (GRCm39) H62L probably damaging Het
Myoz3 A C 18: 60,709,495 (GRCm39) L222R probably damaging Het
Naca T A 10: 127,884,227 (GRCm39) N2180K probably damaging Het
Or6c76 T C 10: 129,612,116 (GRCm39) F111S probably damaging Het
Pik3cb A G 9: 98,955,702 (GRCm39) V405A probably benign Het
Prkdc T C 16: 15,603,914 (GRCm39) probably null Het
Rab32 T C 10: 10,433,846 (GRCm39) probably benign Het
Serpinb10 A C 1: 107,474,597 (GRCm39) N253T possibly damaging Het
Slc13a5 C T 11: 72,151,186 (GRCm39) V131I probably damaging Het
Slc25a40 A G 5: 8,502,788 (GRCm39) N290S probably benign Het
Slc6a6 T C 6: 91,703,020 (GRCm39) V131A probably benign Het
Spef2 A T 15: 9,600,604 (GRCm39) probably null Het
Stxbp2 A G 8: 3,691,998 (GRCm39) M547V probably benign Het
Tmem247 A T 17: 87,225,998 (GRCm39) Q146L probably benign Het
Vmn2r67 T C 7: 84,785,900 (GRCm39) I702V probably benign Het
Zmynd15 T C 11: 70,355,636 (GRCm39) S436P probably benign Het
Other mutations in Fhip2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Fhip2b APN 14 70,822,813 (GRCm39) missense probably damaging 1.00
IGL01862:Fhip2b APN 14 70,825,130 (GRCm39) missense probably benign 0.03
IGL02306:Fhip2b APN 14 70,826,437 (GRCm39) missense probably benign
IGL02534:Fhip2b APN 14 70,823,630 (GRCm39) missense probably benign
IGL02534:Fhip2b APN 14 70,823,128 (GRCm39) missense probably damaging 0.98
IGL03071:Fhip2b APN 14 70,823,649 (GRCm39) missense probably damaging 1.00
IGL03162:Fhip2b APN 14 70,824,994 (GRCm39) missense probably damaging 1.00
IGL03166:Fhip2b APN 14 70,827,616 (GRCm39) missense probably damaging 1.00
IGL03134:Fhip2b UTSW 14 70,826,149 (GRCm39) missense possibly damaging 0.66
R0043:Fhip2b UTSW 14 70,826,101 (GRCm39) missense probably benign 0.45
R0628:Fhip2b UTSW 14 70,825,161 (GRCm39) missense possibly damaging 0.48
R0691:Fhip2b UTSW 14 70,825,727 (GRCm39) missense probably damaging 1.00
R1680:Fhip2b UTSW 14 70,824,291 (GRCm39) missense probably damaging 1.00
R1727:Fhip2b UTSW 14 70,831,438 (GRCm39) missense probably damaging 0.98
R2059:Fhip2b UTSW 14 70,822,489 (GRCm39) missense possibly damaging 0.54
R2362:Fhip2b UTSW 14 70,823,805 (GRCm39) missense probably benign 0.18
R3423:Fhip2b UTSW 14 70,824,025 (GRCm39) missense probably damaging 1.00
R4233:Fhip2b UTSW 14 70,824,318 (GRCm39) missense probably damaging 0.99
R4770:Fhip2b UTSW 14 70,825,727 (GRCm39) missense probably damaging 1.00
R5903:Fhip2b UTSW 14 70,829,121 (GRCm39) missense probably damaging 1.00
R6217:Fhip2b UTSW 14 70,829,198 (GRCm39) splice site probably null
R7424:Fhip2b UTSW 14 70,831,447 (GRCm39) missense probably damaging 1.00
R9176:Fhip2b UTSW 14 70,826,540 (GRCm39) missense probably benign 0.40
R9393:Fhip2b UTSW 14 70,831,463 (GRCm39) nonsense probably null
R9486:Fhip2b UTSW 14 70,826,479 (GRCm39) missense probably benign 0.00
R9529:Fhip2b UTSW 14 70,822,579 (GRCm39) missense probably damaging 1.00
R9610:Fhip2b UTSW 14 70,824,258 (GRCm39) missense probably benign 0.44
R9611:Fhip2b UTSW 14 70,824,258 (GRCm39) missense probably benign 0.44
R9646:Fhip2b UTSW 14 70,827,808 (GRCm39) missense probably damaging 0.99
R9699:Fhip2b UTSW 14 70,825,179 (GRCm39) missense possibly damaging 0.90
R9760:Fhip2b UTSW 14 70,827,621 (GRCm39) missense possibly damaging 0.94
Z1176:Fhip2b UTSW 14 70,823,644 (GRCm39) missense not run
Z1177:Fhip2b UTSW 14 70,823,644 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- TGCATTAAGTCACCGATCACC -3'
(R):5'- AGTGCAAACATGCTCAGCCTC -3'

Sequencing Primer
(F):5'- TGCATTAAGTCACCGATCACCTAGAG -3'
(R):5'- AAACATGCTCAGCCTCGGTTG -3'
Posted On 2018-07-23