Incidental Mutation 'R4893:Fhip2a'
ID 377451
Institutional Source Beutler Lab
Gene Symbol Fhip2a
Ensembl Gene ENSMUSG00000033478
Gene Name FHF complex subunit HOOK interacting protein 2A
Synonyms Fam160b1
MMRRC Submission 042498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4893 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 57349355-57378026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57370188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 477 (H477Q)
Ref Sequence ENSEMBL: ENSMUSP00000048903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036407]
AlphaFold Q8CDM8
Predicted Effect probably benign
Transcript: ENSMUST00000036407
AA Change: H477Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: H477Q

DomainStartEndE-ValueType
Pfam:RAI16-like 78 495 1.1e-144 PFAM
low complexity region 713 724 N/A INTRINSIC
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,904 (GRCm39) I401T probably damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Acss1 C A 2: 150,471,786 (GRCm39) V323F probably damaging Het
Adgrf3 T G 5: 30,405,476 (GRCm39) D286A probably benign Het
Akap5 T C 12: 76,376,743 (GRCm39) V718A probably damaging Het
Ankk1 A G 9: 49,326,983 (GRCm39) V732A probably benign Het
Antxr2 T A 5: 98,151,931 (GRCm39) D180V probably damaging Het
Arfgef2 T G 2: 166,708,876 (GRCm39) F1063V probably benign Het
Ascl5 A T 1: 135,978,917 (GRCm39) I126F probably damaging Het
Aspm T A 1: 139,417,577 (GRCm39) probably null Het
Atf6b T C 17: 34,867,586 (GRCm39) S100P probably damaging Het
Baz2a C A 10: 127,959,284 (GRCm39) H1266Q possibly damaging Het
Cdh4 A T 2: 179,489,212 (GRCm39) probably benign Het
Celsr3 C G 9: 108,726,620 (GRCm39) S3283C probably damaging Het
Clca4b C T 3: 144,630,934 (GRCm39) V309M possibly damaging Het
Cnbd2 T C 2: 156,207,104 (GRCm39) Y436H probably damaging Het
Csnk1a1 T C 18: 61,718,372 (GRCm39) probably benign Het
Cstf1 C T 2: 172,222,444 (GRCm39) R401C probably damaging Het
Cul3 A G 1: 80,266,567 (GRCm39) I117T probably damaging Het
Dlgap3 A G 4: 127,088,776 (GRCm39) D124G probably damaging Het
Dnah12 A G 14: 26,431,325 (GRCm39) D381G possibly damaging Het
Dtna T C 18: 23,702,724 (GRCm39) L85P probably damaging Het
Ephb2 A G 4: 136,387,064 (GRCm39) I722T probably damaging Het
Epn3 A T 11: 94,382,822 (GRCm39) F421I probably damaging Het
Fam83f T A 15: 80,576,156 (GRCm39) L269H probably damaging Het
Gata4 G A 14: 63,439,045 (GRCm39) A139V probably benign Het
Glce T C 9: 61,975,777 (GRCm39) D241G probably benign Het
Gm17728 A T 17: 9,641,063 (GRCm39) I58F probably benign Het
Inhba A T 13: 16,201,134 (GRCm39) D232V possibly damaging Het
Itgb2l C A 16: 96,229,021 (GRCm39) R394L probably benign Het
Klhl14 T C 18: 21,690,992 (GRCm39) Y486C probably damaging Het
Krt1 A G 15: 101,758,555 (GRCm39) I203T probably damaging Het
Lims2 T C 18: 32,074,864 (GRCm39) probably null Het
Lrrc31 T G 3: 30,733,446 (GRCm39) I423L probably benign Het
Map7d1 C T 4: 126,127,015 (GRCm39) D732N unknown Het
Mau2 A T 8: 70,483,290 (GRCm39) probably null Het
Mbtps1 G A 8: 120,244,932 (GRCm39) R840W probably damaging Het
Morn3 T C 5: 123,175,745 (GRCm39) I214M probably damaging Het
Mrpl44 A G 1: 79,755,582 (GRCm39) K63E probably damaging Het
Muc20 T C 16: 32,615,042 (GRCm39) T112A possibly damaging Het
Myo6 T A 9: 80,136,159 (GRCm39) L94Q probably damaging Het
Nos1 C A 5: 118,090,942 (GRCm39) T1423K possibly damaging Het
Or2l13 A G 16: 19,305,653 (GRCm39) T22A probably benign Het
Or2t1 T C 14: 14,328,852 (GRCm38) V247A probably damaging Het
Pdzd2 T C 15: 12,385,429 (GRCm39) T1114A probably benign Het
Pgm2 T C 5: 64,263,283 (GRCm39) V310A probably benign Het
Pi4ka T C 16: 17,194,900 (GRCm39) E166G probably benign Het
Pign A T 1: 105,574,436 (GRCm39) D303E probably damaging Het
Pik3c3 G T 18: 30,415,053 (GRCm39) V149L probably benign Het
Pkd1l3 A T 8: 110,365,026 (GRCm39) Y1126F probably benign Het
Pkd2l1 T A 19: 44,142,210 (GRCm39) Q516L probably benign Het
Pnliprp2 C A 19: 58,759,853 (GRCm39) Q355K probably benign Het
Pnpla7 T A 2: 24,943,688 (GRCm39) Y1314* probably null Het
Ppp1r1b A G 11: 98,246,170 (GRCm39) T51A possibly damaging Het
Prkcd A T 14: 30,321,382 (GRCm39) S544T probably damaging Het
Pusl1 G A 4: 155,973,998 (GRCm39) T252I probably benign Het
Rnf44 A G 13: 54,829,745 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,145 (GRCm39) V303E probably damaging Het
Slc28a2 T A 2: 122,285,697 (GRCm39) probably null Het
Sox8 T C 17: 25,787,963 (GRCm39) D162G probably damaging Het
Spag1 T C 15: 36,197,992 (GRCm39) probably null Het
Taar6 T C 10: 23,861,298 (GRCm39) I83V probably benign Het
Tes T A 6: 17,104,595 (GRCm39) C359S probably damaging Het
Vmn2r4 A T 3: 64,313,676 (GRCm39) L435H probably damaging Het
Zfhx3 G T 8: 109,683,639 (GRCm39) D3693Y unknown Het
Zfp931 G A 2: 177,709,996 (GRCm39) P130L probably damaging Het
Zfr T G 15: 12,136,628 (GRCm39) V95G unknown Het
Zw10 A G 9: 48,985,325 (GRCm39) E587G possibly 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
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
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'- GCCATGTTCAACTGTGCTG -3'
(R):5'- TAGAGAACCCAAGTCCTGGC -3'

Sequencing Primer
(F):5'- ATGTGTCCCCAGGATTGAAC -3'
(R):5'- AAGTCCTGGCTGGGGAGAC -3'
Posted On 2016-03-17