Incidental Mutation 'IGL01830:Catsper2'
ID154772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catsper2
Ensembl Gene ENSMUSG00000033486
Gene Namecation channel, sperm associated 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL01830
Quality Score
Status
Chromosome2
Chromosomal Location121392631-121413792 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121407362 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 179 (D179G)
Ref Sequence ENSEMBL: ENSMUSP00000037222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038073] [ENSMUST00000154604]
Predicted Effect probably damaging
Transcript: ENSMUST00000038073
AA Change: D179G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486
AA Change: D179G

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Pfam:Ion_trans 105 350 1e-35 PFAM
low complexity region 422 447 N/A INTRINSIC
internal_repeat_1 450 473 3.72e-11 PROSPERO
internal_repeat_1 465 488 3.72e-11 PROSPERO
low complexity region 491 502 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123982
Predicted Effect probably benign
Transcript: ENSMUST00000154604
SMART Domains Protein: ENSMUSP00000119091
Gene: ENSMUSG00000033486

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null male mice are infertile due to a sperm motility defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,899,029 P252Q probably damaging Het
Anks4b T A 7: 120,173,996 N26K probably damaging Het
Arrdc5 C T 17: 56,294,652 V158I probably damaging Het
Cd44 T C 2: 102,842,258 probably benign Het
Ceacam3 T A 7: 17,155,000 D231E possibly damaging Het
Cep57l1 C T 10: 41,728,653 C160Y probably benign Het
Chek2 T A 5: 110,873,508 L528Q probably benign Het
Ciita T C 16: 10,521,051 L973P probably damaging Het
Dock2 A T 11: 34,691,917 L637* probably null Het
Fsip2 A C 2: 82,984,929 I3669L probably benign Het
Gapvd1 A G 2: 34,688,956 V1218A probably benign Het
Gip T C 11: 96,028,724 L91S possibly damaging Het
Gp2 T C 7: 119,451,542 D322G probably damaging Het
Ift172 A G 5: 31,285,292 V177A probably damaging Het
Kng2 T C 16: 22,988,051 D466G probably damaging Het
Lpar5 G A 6: 125,081,822 A169T probably benign Het
Med13 C T 11: 86,288,928 probably benign Het
Meiob T A 17: 24,835,131 C391S probably benign Het
Mgat5 A G 1: 127,412,132 T417A probably damaging Het
Myo1b A T 1: 51,797,465 L279* probably null Het
Myo1g T A 11: 6,514,522 K513* probably null Het
Nxpe2 A T 9: 48,326,494 S154T probably damaging Het
Ogn C T 13: 49,609,247 Q22* probably null Het
Olfr1259 A G 2: 89,943,431 L228S probably benign Het
Pacs2 A T 12: 113,056,954 K316* probably null Het
Pelo T A 13: 115,088,595 I365F probably damaging Het
Phf3 G A 1: 30,814,067 Q1021* probably null Het
Pik3r4 A G 9: 105,644,955 D240G probably damaging Het
Pknox1 T C 17: 31,595,310 M203T probably benign Het
Pld1 T C 3: 28,048,004 probably benign Het
Rabgef1 G T 5: 130,212,066 C342F possibly damaging Het
Rbm19 A C 5: 120,124,695 K307T possibly damaging Het
Sdcbp2 T A 2: 151,589,574 I289N probably damaging Het
Slc5a12 G A 2: 110,597,806 G69R probably damaging Het
Spag1 C A 15: 36,221,559 S599R probably benign Het
Ubr4 A T 4: 139,472,500 D4565V probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn1r225 T C 17: 20,502,455 S53P probably damaging Het
Xrcc1 T A 7: 24,573,342 probably benign Het
Other mutations in Catsper2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Catsper2 APN 2 121397892 splice site probably benign
IGL03243:Catsper2 APN 2 121406819 missense probably benign 0.08
IGL03247:Catsper2 APN 2 121410200 missense probably benign 0.03
IGL03342:Catsper2 APN 2 121406736 missense probably damaging 0.99
FR4304:Catsper2 UTSW 2 121397542 nonsense probably null
FR4304:Catsper2 UTSW 2 121397782 utr 3 prime probably benign
FR4342:Catsper2 UTSW 2 121397793 utr 3 prime probably benign
FR4589:Catsper2 UTSW 2 121397779 utr 3 prime probably benign
FR4737:Catsper2 UTSW 2 121397540 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397542 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397779 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397782 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397795 utr 3 prime probably benign
R1463:Catsper2 UTSW 2 121406446 missense probably damaging 1.00
R1686:Catsper2 UTSW 2 121400042 critical splice donor site probably null
R2006:Catsper2 UTSW 2 121406357 nonsense probably null
R2163:Catsper2 UTSW 2 121400175 missense probably damaging 1.00
R4543:Catsper2 UTSW 2 121407409 nonsense probably null
R4888:Catsper2 UTSW 2 121397123 splice site probably null
R5121:Catsper2 UTSW 2 121397123 splice site probably null
R5323:Catsper2 UTSW 2 121406735 missense probably damaging 1.00
R5518:Catsper2 UTSW 2 121406363 missense possibly damaging 0.69
R5605:Catsper2 UTSW 2 121397052 missense possibly damaging 0.91
R6521:Catsper2 UTSW 2 121406807 missense probably damaging 1.00
R6531:Catsper2 UTSW 2 121399780 missense possibly damaging 0.67
R7055:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
R7138:Catsper2 UTSW 2 121397063 missense possibly damaging 0.85
R7240:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
R7247:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
Posted On2014-02-04