Incidental Mutation 'R5809:Smok2a'
ID 501921
Institutional Source Beutler Lab
Gene Symbol Smok2a
Ensembl Gene ENSMUSG00000073458
Gene Name sperm motility kinase 2A
Synonyms Smok2
MMRRC Submission 043394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5809 (G1)
Quality Score 27
Status Validated
Chromosome 17
Chromosomal Location 13440075-13446545 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13445865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 481 (R481G)
Ref Sequence ENSEMBL: ENSMUSP00000094432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080647] [ENSMUST00000162940]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000080647
AA Change: R481G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000094432
Gene: ENSMUSG00000073458
AA Change: R481G

DomainStartEndE-ValueType
S_TKc 28 276 2.02e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162940
SMART Domains Protein: ENSMUSP00000124967
Gene: ENSMUSG00000073457

DomainStartEndE-ValueType
S_TKc 8 256 3.13e-98 SMART
low complexity region 393 405 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,556 (GRCm39) S4G unknown Het
AA623943 T C 11: 94,703,828 (GRCm39) noncoding transcript Het
Abca13 T A 11: 9,243,692 (GRCm39) S1852T probably damaging Het
Ackr2 G A 9: 121,738,540 (GRCm39) C305Y probably damaging Het
Aebp1 T C 11: 5,820,257 (GRCm39) V411A probably benign Het
Akp3 G A 1: 87,054,270 (GRCm39) R269H probably benign Het
Alox15 C A 11: 70,241,708 (GRCm39) G58W probably damaging Het
Ankle2 A G 5: 110,385,856 (GRCm39) N369S probably damaging Het
Ankrd28 T A 14: 31,465,311 (GRCm39) I289L probably benign Het
Atp13a4 T A 16: 29,252,805 (GRCm39) T714S possibly damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Blm A T 7: 80,114,592 (GRCm39) L1159Q probably damaging Het
Caskin1 G A 17: 24,723,521 (GRCm39) V770I probably benign Het
Ccdc148 T A 2: 58,713,657 (GRCm39) H498L probably damaging Het
Cdh26 T A 2: 178,101,919 (GRCm39) Y179* probably null Het
Cela2a T A 4: 141,552,864 (GRCm39) T38S probably benign Het
Cep350 A T 1: 155,809,087 (GRCm39) N496K probably damaging Het
Cep89 A G 7: 35,117,151 (GRCm39) Y251C probably damaging Het
Cluh T C 11: 74,552,526 (GRCm39) S524P probably damaging Het
Cpeb4 T C 11: 31,822,801 (GRCm39) S172P probably damaging Het
Ctnnd2 T C 15: 30,847,523 (GRCm39) S705P probably damaging Het
Dock2 T G 11: 34,212,445 (GRCm39) D1232A probably benign Het
Donson T C 16: 91,484,738 (GRCm39) N9S possibly damaging Het
Gdf9 T C 11: 53,324,381 (GRCm39) L50P probably benign Het
Gm10300 C T 4: 131,802,458 (GRCm39) probably benign Het
Gm8369 A G 19: 11,482,248 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,924 (GRCm39) noncoding transcript Het
Hepacam T A 9: 37,296,101 (GRCm39) S417R possibly damaging Het
Hibch T A 1: 52,892,859 (GRCm39) L23Q probably benign Het
Hmcn1 G A 1: 150,525,358 (GRCm39) R3389C probably damaging Het
Hsp90ab1 G T 17: 45,881,575 (GRCm39) probably benign Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Il12a A T 3: 68,602,595 (GRCm39) probably benign Het
Ints13 A G 6: 146,477,847 (GRCm39) V34A probably benign Het
Intu A C 3: 40,634,020 (GRCm39) M418L probably damaging Het
Khdc4 A G 3: 88,616,192 (GRCm39) R460G probably damaging Het
Klra9 A G 6: 130,156,036 (GRCm39) S240P probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndrg1 A G 15: 66,802,699 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,905 (GRCm39) *310Q probably null Het
Or5k17 T C 16: 58,746,860 (GRCm39) T25A probably benign Het
Pate6 C T 9: 35,700,297 (GRCm39) C96Y probably damaging Het
Pax7 A G 4: 139,557,682 (GRCm39) S30P probably damaging Het
Pdcd11 A T 19: 47,082,247 (GRCm39) T54S probably benign Het
Pex19 T C 1: 171,958,306 (GRCm39) V95A probably damaging Het
Pkhd1l1 A G 15: 44,383,103 (GRCm39) I1121V probably benign Het
Pklr A T 3: 89,049,091 (GRCm39) I146F probably benign Het
Plcb1 T C 2: 135,104,164 (GRCm39) Y278H possibly damaging Het
Plcl1 T A 1: 55,735,160 (GRCm39) I167N probably damaging Het
Plekhh1 A T 12: 79,125,461 (GRCm39) I1241F probably benign Het
Plxnb2 G T 15: 89,051,774 (GRCm39) D148E possibly damaging Het
Pthlh T C 6: 147,158,745 (GRCm39) I72V probably damaging Het
Ptpru C T 4: 131,513,067 (GRCm39) R880Q probably benign Het
Rrp36 T C 17: 46,978,932 (GRCm39) K209E probably damaging Het
Scarb1 A G 5: 125,381,286 (GRCm39) V86A probably damaging Het
Sh2d7 A C 9: 54,446,860 (GRCm39) S37R probably benign Het
Slc13a2 A T 11: 78,288,647 (GRCm39) V543E probably damaging Het
Smarcal1 A G 1: 72,630,296 (GRCm39) T117A probably benign Het
Smr2 G A 5: 88,256,699 (GRCm39) A126T probably benign Het
Sspo G T 6: 48,436,979 (GRCm39) W1304C possibly damaging Het
Svep1 A G 4: 58,116,524 (GRCm39) S909P possibly damaging Het
Tchh A T 3: 93,352,880 (GRCm39) K773N unknown Het
Tmem156 T C 5: 65,232,950 (GRCm39) N140S possibly damaging Het
Tmem213 T C 6: 38,092,589 (GRCm39) I107T possibly damaging Het
Tpd52l2 A G 2: 181,153,372 (GRCm39) Y161C probably damaging Het
Trappc8 C T 18: 20,951,139 (GRCm39) A1436T probably benign Het
Ubr3 A G 2: 69,795,855 (GRCm39) Y933C possibly damaging Het
Ufm1 A T 3: 53,765,303 (GRCm39) probably benign Het
Wdr27 A T 17: 15,103,931 (GRCm39) L725Q probably damaging Het
Zdbf2 A G 1: 63,345,035 (GRCm39) D1138G possibly damaging Het
Zkscan16 G A 4: 58,946,481 (GRCm39) V119M probably damaging Het
Zmat5 A G 11: 4,672,431 (GRCm39) D16G probably damaging Het
Other mutations in Smok2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Smok2a APN 17 13,445,377 (GRCm39) missense probably benign 0.00
R6046:Smok2a UTSW 17 13,445,021 (GRCm39) missense probably benign 0.34
R6444:Smok2a UTSW 17 13,444,500 (GRCm39) missense probably benign 0.01
R6464:Smok2a UTSW 17 13,445,317 (GRCm39) missense probably damaging 1.00
R6896:Smok2a UTSW 17 13,444,758 (GRCm39) missense probably benign 0.03
R6912:Smok2a UTSW 17 13,444,543 (GRCm39) missense probably benign 0.08
R7027:Smok2a UTSW 17 13,444,666 (GRCm39) missense probably damaging 1.00
R7445:Smok2a UTSW 17 13,445,526 (GRCm39) missense possibly damaging 0.76
R7793:Smok2a UTSW 17 13,444,513 (GRCm39) missense possibly damaging 0.59
R7935:Smok2a UTSW 17 13,444,599 (GRCm39) missense probably damaging 0.97
R8274:Smok2a UTSW 17 13,445,781 (GRCm39) missense probably benign 0.01
R8293:Smok2a UTSW 17 13,445,791 (GRCm39) missense probably benign 0.00
R8316:Smok2a UTSW 17 13,445,160 (GRCm39) missense probably damaging 1.00
R8413:Smok2a UTSW 17 13,444,499 (GRCm39) missense probably benign 0.20
R9067:Smok2a UTSW 17 13,445,825 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGTACTAGGAGTGTTCCCTGC -3'
(R):5'- CTAGACCTAGCTTCACCATGC -3'

Sequencing Primer
(F):5'- AGGAGTGTTCCCTGCATTAAC -3'
(R):5'- GTATAATCTGCCAGTTGACACAGAC -3'
Posted On 2017-12-20