Incidental Mutation 'R9486:Fhip2b'
ID 716615
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R9486 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 70820736-70837275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70826479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 203 (D203G)
Ref Sequence ENSEMBL: ENSMUSP00000022690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022690]
AlphaFold Q80YR2
Predicted Effect probably benign
Transcript: ENSMUST00000022690
AA Change: D203G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: D203G

DomainStartEndE-ValueType
Pfam:RAI16-like 79 477 7.7e-112 PFAM
low complexity region 516 528 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,546,942 (GRCm39) F396L probably damaging Het
Abca13 T C 11: 9,240,621 (GRCm39) I828T possibly damaging Het
Ace3 A T 11: 105,896,219 (GRCm39) T722S probably benign Het
Acot2 A G 12: 84,039,426 (GRCm39) T312A probably benign Het
Adra2a A G 19: 54,035,963 (GRCm39) I440V probably damaging Het
Arhgap22 T A 14: 33,073,303 (GRCm39) M4K probably benign Het
Atp8b3 C T 10: 80,366,821 (GRCm39) C259Y probably damaging Het
Bcl2 T A 1: 106,471,109 (GRCm39) Y199F probably benign Het
Brca1 A T 11: 101,414,520 (GRCm39) C1205S probably benign Het
Col7a1 T C 9: 108,811,396 (GRCm39) V2743A unknown Het
Crybg1 A G 10: 43,880,145 (GRCm39) probably benign Het
Cyp2c40 T A 19: 39,755,808 (GRCm39) H502L probably benign Het
Cyp2c40 A T 19: 39,796,050 (GRCm39) Y109* probably null Het
Cyp4a29 T C 4: 115,106,916 (GRCm39) M191T probably damaging Het
Dcaf1 A G 9: 106,735,916 (GRCm39) R955G possibly damaging Het
Dcaf4 G T 12: 83,582,726 (GRCm39) A274S probably damaging Het
Dlx1 A G 2: 71,362,828 (GRCm39) H245R probably damaging Het
Dnah14 A G 1: 181,508,494 (GRCm39) N1891D possibly damaging Het
Dock10 A T 1: 80,479,452 (GRCm39) V2167D unknown Het
Epyc A G 10: 97,511,697 (GRCm39) Q230R probably benign Het
Etnk1 G A 6: 143,130,310 (GRCm39) R143H probably damaging Het
Fmo2 T C 1: 162,708,292 (GRCm39) E281G probably damaging Het
Gm2042 T A 12: 87,925,963 (GRCm39) Y304N possibly damaging Het
Hecw2 T C 1: 53,852,466 (GRCm39) D1551G probably damaging Het
Hgd A T 16: 37,413,811 (GRCm39) D91V probably benign Het
Hspa12a A G 19: 58,797,891 (GRCm39) F276L probably benign Het
Ifitm10 C T 7: 141,909,812 (GRCm39) V95M probably damaging Het
Ints3 G A 3: 90,313,579 (GRCm39) R350* probably null Het
Kdm4c T A 4: 74,252,966 (GRCm39) I511K probably benign Het
Kif27 A G 13: 58,492,348 (GRCm39) S264P probably damaging Het
L1td1 A G 4: 98,624,899 (GRCm39) T365A probably benign Het
Ltbp2 T A 12: 84,878,648 (GRCm39) T304S possibly damaging Het
Mamdc4 T A 2: 25,455,164 (GRCm39) Y962F probably benign Het
Map3k4 C T 17: 12,489,860 (GRCm39) A524T probably damaging Het
Mfsd8 C T 3: 40,789,627 (GRCm39) R140H probably damaging Het
Mmp3 A G 9: 7,451,256 (GRCm39) I331V possibly damaging Het
Mpdz T A 4: 81,254,043 (GRCm39) I1030F probably damaging Het
Mtx1 A T 3: 89,120,163 (GRCm39) C62S Het
Muc20 A T 16: 32,615,248 (GRCm39) V43E possibly damaging Het
Naa25 A G 5: 121,577,958 (GRCm39) E955G probably damaging Het
Nelfcd A G 2: 174,268,635 (GRCm39) Y562C probably damaging Het
Nsd2 T A 5: 34,018,493 (GRCm39) M509K probably benign Het
Obscn T C 11: 58,918,272 (GRCm39) T207A Het
Or1ad1 T A 11: 50,875,691 (GRCm39) H54Q possibly damaging Het
Or4a39 C T 2: 89,236,959 (GRCm39) V155M possibly damaging Het
Or4k5 T A 14: 50,385,672 (GRCm39) I220L probably benign Het
Osbpl11 A T 16: 33,006,283 (GRCm39) N37I possibly damaging Het
Pcdh9 A G 14: 93,797,956 (GRCm39) S1032P possibly damaging Het
Pde6b T A 5: 108,551,241 (GRCm39) I175N probably damaging Het
Pfkl T A 10: 77,824,184 (GRCm39) M735L probably benign Het
Pkp4 T C 2: 59,138,722 (GRCm39) V324A probably benign Het
Ptprb T A 10: 116,155,494 (GRCm39) C462* probably null Het
Rasal3 T C 17: 32,617,910 (GRCm39) N221S probably benign Het
Reep1 A T 6: 71,684,969 (GRCm39) I6F probably benign Het
Rhobtb1 T A 10: 69,106,621 (GRCm39) F457L probably damaging Het
Ryr1 T C 7: 28,777,965 (GRCm39) N2184S probably benign Het
Scn11a T G 9: 119,624,774 (GRCm39) H516P possibly damaging Het
Sipa1l1 T C 12: 82,404,139 (GRCm39) probably null Het
Slc17a7 A G 7: 44,821,606 (GRCm39) N381S possibly damaging Het
Slc38a3 C T 9: 107,536,322 (GRCm39) V25M probably benign Het
Spag1 T G 15: 36,181,954 (GRCm39) D37E probably damaging Het
Spib G T 7: 44,178,815 (GRCm39) D114E possibly damaging Het
Tpx2 A T 2: 152,726,933 (GRCm39) Y400F probably damaging Het
Trhde A G 10: 114,532,014 (GRCm39) I362T possibly damaging Het
Usp17ld C T 7: 102,899,381 (GRCm39) G517E probably benign Het
Vmn1r22 A T 6: 57,877,404 (GRCm39) M191K probably damaging Het
Wdr6 G A 9: 108,453,182 (GRCm39) R234C probably damaging Het
Zdhhc22 C T 12: 87,030,398 (GRCm39) M183I probably benign Het
Zfp1007 C A 5: 109,824,062 (GRCm39) G463* probably null Het
Zfp949 C A 9: 88,452,182 (GRCm39) T584N 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
R6665:Fhip2b UTSW 14 70,823,078 (GRCm39) missense probably damaging 1.00
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
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'- TCTGTAGTCAGACCTTGCTCT -3'
(R):5'- CTGTTGGAGGCAGGTGCTA -3'

Sequencing Primer
(F):5'- TCTTGCACAGTCCCAGCAG -3'
(R):5'- TGCCTTCCAAGATTACAGGG -3'
Posted On 2022-07-18