Incidental Mutation 'R4821:Frk'
ID 370229
Institutional Source Beutler Lab
Gene Symbol Frk
Ensembl Gene ENSMUSG00000019779
Gene Name fyn-related kinase
Synonyms BSK/IYK, GTK
MMRRC Submission 042437-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R4821 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 34359395-34487274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34360233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 78 (V78A)
Ref Sequence ENSEMBL: ENSMUSP00000130289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019913] [ENSMUST00000170771]
AlphaFold Q922K9
Predicted Effect probably benign
Transcript: ENSMUST00000019913
AA Change: V78A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779
AA Change: V78A

DomainStartEndE-ValueType
SH3 52 116 2.76e-19 SMART
SH2 121 206 4.97e-37 SMART
TyrKc 241 494 8.58e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170771
AA Change: V78A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779
AA Change: V78A

DomainStartEndE-ValueType
SH3 52 116 2.76e-19 SMART
SH2 121 206 4.97e-37 SMART
TyrKc 241 494 8.58e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215594
Meta Mutation Damage Score 0.2294 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit increased susceptibility to spontaneous tumors nor increased sensitivity to inoizing radiation. Epithelial tissues appear similar to controls, but circulating levels of T3 were significantly reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,871 (GRCm39) K150R probably damaging Het
Aak1 T C 6: 86,827,171 (GRCm39) V46A probably damaging Het
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adam33 G A 2: 130,903,115 (GRCm39) P43L probably benign Het
Adamtsl2 T A 2: 26,988,604 (GRCm39) probably null Het
Akap13 A G 7: 75,327,255 (GRCm39) probably benign Het
Art1 T A 7: 101,756,385 (GRCm39) L192Q probably damaging Het
Baalc A G 15: 38,796,575 (GRCm39) probably benign Het
Baz2a A G 10: 127,946,978 (GRCm39) E164G probably damaging Het
Bcs1l A G 1: 74,631,144 (GRCm39) I391V probably benign Het
Cacna1c T C 6: 118,673,386 (GRCm39) T497A probably damaging Het
Cap2 C A 13: 46,763,586 (GRCm39) T164N probably damaging Het
Ccdc57 A G 11: 120,751,225 (GRCm39) probably null Het
Ccdc88c T C 12: 100,904,338 (GRCm39) N1120S probably benign Het
Cfap210 T C 2: 69,612,452 (GRCm39) E96G possibly damaging Het
Chd7 T A 4: 8,844,706 (GRCm39) V1605D probably damaging Het
Col12a1 A T 9: 79,622,622 (GRCm39) probably benign Het
Commd3 T C 2: 18,677,339 (GRCm39) S22P probably benign Het
Cpd T C 11: 76,737,063 (GRCm39) I244V probably benign Het
Cpeb2 C A 5: 43,390,817 (GRCm39) probably benign Het
Cyp2c65 A G 19: 39,060,635 (GRCm39) D165G probably damaging Het
Ddx1 T C 12: 13,289,148 (GRCm39) Y152C probably damaging Het
Dennd4a G A 9: 64,804,531 (GRCm39) C1290Y possibly damaging Het
Ebf4 G A 2: 130,148,965 (GRCm39) M232I probably benign Het
Farp2 A G 1: 93,502,192 (GRCm39) probably null Het
Gm5799 A G 14: 43,782,098 (GRCm39) D90G probably damaging Het
Gpr45 C G 1: 43,069,613 (GRCm39) probably benign Het
Hfm1 C T 5: 107,002,606 (GRCm39) probably null Het
Igkv4-57-1 T A 6: 69,521,387 (GRCm39) D105V probably damaging Het
Impdh2-ps A G 8: 100,757,995 (GRCm39) noncoding transcript Het
Kctd4 G A 14: 76,200,217 (GRCm39) V63I probably benign Het
Lcn6 T A 2: 25,570,822 (GRCm39) L137M probably damaging Het
Lonrf1 T C 8: 36,687,126 (GRCm39) N737D probably benign Het
Mcu C T 10: 59,303,511 (GRCm39) V109M probably damaging Het
Mecom C A 3: 30,039,500 (GRCm39) K186N probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mybpc1 T C 10: 88,384,727 (GRCm39) D533G probably damaging Het
Nae1 A C 8: 105,246,416 (GRCm39) C294G probably damaging Het
Ncapg2 T G 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkx2-2 A T 2: 147,027,763 (GRCm39) L59Q possibly damaging Het
Nrxn3 C T 12: 90,171,483 (GRCm39) T295I probably damaging Het
Obscn C T 11: 58,897,652 (GRCm39) probably benign Het
Obscn A T 11: 58,931,293 (GRCm39) M5781K probably damaging Het
Or11g24 A G 14: 50,662,206 (GRCm39) T77A possibly damaging Het
Or4k39 T C 2: 111,239,570 (GRCm39) noncoding transcript Het
Or4z4 T A 19: 12,076,110 (GRCm39) M298L probably benign Het
Pcdhb6 C A 18: 37,467,381 (GRCm39) P101T probably damaging Het
Pot1b A G 17: 55,979,885 (GRCm39) S324P possibly damaging Het
Potefam1 T C 2: 111,034,490 (GRCm39) probably null Het
Ppcdc C T 9: 57,342,194 (GRCm39) V43I probably benign Het
Prr13 A T 15: 102,369,120 (GRCm39) probably benign Het
Rab10os T A 12: 3,287,322 (GRCm39) noncoding transcript Het
Rabgap1 T C 2: 37,422,531 (GRCm39) S595P probably damaging Het
Rap1gap T C 4: 137,439,440 (GRCm39) S126P probably damaging Het
Rgs6 A T 12: 83,114,185 (GRCm39) probably null Het
Slc5a6 T A 5: 31,194,228 (GRCm39) K610* probably null Het
Sun5 C T 2: 153,711,386 (GRCm39) V27I probably benign Het
Tmco5b T C 2: 113,120,102 (GRCm39) I126T probably benign Het
Tmed7 G A 18: 46,726,480 (GRCm39) Q92* probably null Het
Trav7d-2 A G 14: 52,921,885 (GRCm39) D98G probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Ush2a T C 1: 188,485,848 (GRCm39) V2986A probably benign Het
Usp33 T C 3: 152,064,310 (GRCm39) V58A probably benign Het
Vmn2r94 T A 17: 18,477,293 (GRCm39) M373L probably benign Het
Ywhaq T C 12: 21,467,512 (GRCm39) probably benign Het
Zbbx G A 3: 74,989,054 (GRCm39) H345Y possibly damaging Het
Zfp346 G T 13: 55,261,626 (GRCm39) probably benign Het
Zfp616 C T 11: 73,975,033 (GRCm39) A434V probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably damaging Het
Other mutations in Frk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Frk APN 10 34,360,239 (GRCm39) missense probably damaging 0.98
IGL01402:Frk APN 10 34,423,381 (GRCm39) missense probably damaging 1.00
IGL02197:Frk APN 10 34,360,330 (GRCm39) missense probably damaging 1.00
IGL02289:Frk APN 10 34,360,362 (GRCm39) missense probably damaging 0.99
IGL02618:Frk APN 10 34,459,960 (GRCm39) missense possibly damaging 0.88
IGL02885:Frk APN 10 34,360,067 (GRCm39) missense probably benign 0.03
IGL03256:Frk APN 10 34,483,838 (GRCm39) missense probably benign 0.00
R0299:Frk UTSW 10 34,360,367 (GRCm39) critical splice donor site probably null
R0697:Frk UTSW 10 34,483,833 (GRCm39) missense probably benign 0.12
R1033:Frk UTSW 10 34,484,454 (GRCm39) missense probably damaging 1.00
R1583:Frk UTSW 10 34,467,806 (GRCm39) critical splice acceptor site probably null
R1793:Frk UTSW 10 34,483,878 (GRCm39) missense probably benign 0.05
R2248:Frk UTSW 10 34,484,527 (GRCm39) missense probably benign 0.10
R3084:Frk UTSW 10 34,483,950 (GRCm39) missense probably damaging 1.00
R3086:Frk UTSW 10 34,483,950 (GRCm39) missense probably damaging 1.00
R3765:Frk UTSW 10 34,360,001 (GRCm39) start codon destroyed probably null 0.98
R3766:Frk UTSW 10 34,360,001 (GRCm39) start codon destroyed probably null 0.98
R3906:Frk UTSW 10 34,460,052 (GRCm39) missense probably benign 0.00
R4163:Frk UTSW 10 34,467,868 (GRCm39) missense probably damaging 0.98
R4486:Frk UTSW 10 34,484,377 (GRCm39) missense probably benign 0.10
R4591:Frk UTSW 10 34,481,829 (GRCm39) missense probably benign 0.03
R5070:Frk UTSW 10 34,360,280 (GRCm39) nonsense probably null
R6172:Frk UTSW 10 34,467,961 (GRCm39) missense probably damaging 1.00
R6572:Frk UTSW 10 34,459,963 (GRCm39) missense probably benign 0.00
R6619:Frk UTSW 10 34,481,835 (GRCm39) missense probably benign 0.22
R7307:Frk UTSW 10 34,467,934 (GRCm39) missense probably damaging 1.00
R7486:Frk UTSW 10 34,423,292 (GRCm39) nonsense probably null
R7916:Frk UTSW 10 34,360,021 (GRCm39) missense possibly damaging 0.74
R8341:Frk UTSW 10 34,462,279 (GRCm39) missense probably damaging 1.00
R8675:Frk UTSW 10 34,484,493 (GRCm39) missense probably benign 0.00
R8801:Frk UTSW 10 34,423,402 (GRCm39) missense possibly damaging 0.78
R9608:Frk UTSW 10 34,481,873 (GRCm39) critical splice donor site probably null
Z1177:Frk UTSW 10 34,460,001 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGACTCTGGGCATACCTG -3'
(R):5'- AGAGTTCAGTATCCAACCCCG -3'

Sequencing Primer
(F):5'- TGCTGGTCTCAAGAGGCAGAC -3'
(R):5'- GTTCAGTATCCAACCCCGAAAGAATC -3'
Posted On 2016-02-04