Incidental Mutation 'IGL03247:Catsperg2'
ID 414449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catsperg2
Ensembl Gene ENSMUSG00000049123
Gene Name cation channel sperm associated auxiliary subunit gamma 2
Synonyms 1700067C01Rik, CATSPERG
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL03247
Quality Score
Status
Chromosome 7
Chromosomal Location 29697219-29727032 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29717048 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 313 (N313S)
Ref Sequence ENSEMBL: ENSMUSP00000147099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208371] [ENSMUST00000208607] [ENSMUST00000209126]
AlphaFold C6KI89
Predicted Effect possibly damaging
Transcript: ENSMUST00000061193
AA Change: N313S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: N313S

DomainStartEndE-ValueType
Pfam:CATSPERG 2 973 N/A PFAM
transmembrane domain 1065 1087 N/A INTRINSIC
low complexity region 1106 1118 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000207115
AA Change: N193S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208345
Predicted Effect probably benign
Transcript: ENSMUST00000208371
Predicted Effect possibly damaging
Transcript: ENSMUST00000208607
AA Change: N313S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209126
AA Change: N313S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 (GRCm38) I926F probably damaging Het
Agap3 A G 5: 24,487,822 (GRCm38) N418D probably damaging Het
Alms1 T C 6: 85,678,597 (GRCm38) V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 (GRCm38) M1L possibly damaging Het
Aox4 A G 1: 58,264,367 (GRCm38) D1188G probably damaging Het
Car2 T A 3: 14,887,939 (GRCm38) L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 (GRCm38) V107A probably benign Het
Dolk T C 2: 30,285,511 (GRCm38) Y174C probably damaging Het
Erfe A G 1: 91,370,425 (GRCm38) E219G probably benign Het
Ern2 T C 7: 122,171,671 (GRCm38) E733G probably benign Het
Fam159a A T 4: 108,367,901 (GRCm38) C155S probably benign Het
Fam228a A G 12: 4,737,734 (GRCm38) F13S probably damaging Het
Fancd2 T C 6: 113,568,208 (GRCm38) V829A probably benign Het
Gid4 C A 11: 60,432,343 (GRCm38) T87N probably benign Het
H2-Ob A G 17: 34,243,492 (GRCm38) K152R probably benign Het
Ifna2 T A 4: 88,683,377 (GRCm38) T135S probably benign Het
Il1rapl2 G A X: 138,789,680 (GRCm38) G298D probably damaging Het
Mbd1 T A 18: 74,274,754 (GRCm38) L174* probably null Het
Mga T A 2: 119,935,513 (GRCm38) D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 (GRCm38) M54K probably benign Het
Mphosph8 T A 14: 56,678,820 (GRCm38) probably null Het
Mrps23 A G 11: 88,210,096 (GRCm38) probably benign Het
Necab1 C T 4: 14,960,046 (GRCm38) M300I probably benign Het
Nid2 G A 14: 19,779,620 (GRCm38) D660N probably damaging Het
Olfr693 T A 7: 106,677,547 (GRCm38) H313L probably benign Het
Olfr824 T A 10: 130,126,715 (GRCm38) E114V probably damaging Het
P2ry13 A T 3: 59,209,592 (GRCm38) V255D possibly damaging Het
Peak1 C T 9: 56,257,930 (GRCm38) E905K probably damaging Het
Picalm C A 7: 90,194,291 (GRCm38) Q550K probably benign Het
Rnf103 T A 6: 71,510,305 (GRCm38) V640E possibly damaging Het
Sec31b T G 19: 44,518,940 (GRCm38) K817N possibly damaging Het
Skint2 C A 4: 112,626,026 (GRCm38) H209Q probably benign Het
Skint5 T C 4: 113,940,808 (GRCm38) S193G probably damaging Het
Tacr3 A G 3: 134,930,091 (GRCm38) probably benign Het
Tek A G 4: 94,865,443 (GRCm38) M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 (GRCm38) S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 (GRCm38) N299K possibly damaging Het
Washc4 T C 10: 83,564,463 (GRCm38) S418P probably benign Het
Other mutations in Catsperg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Catsperg2 APN 7 29,705,404 (GRCm38) missense possibly damaging 0.86
IGL00095:Catsperg2 APN 7 29,698,058 (GRCm38) missense possibly damaging 0.73
IGL00902:Catsperg2 APN 7 29,701,143 (GRCm38) missense possibly damaging 0.93
IGL01667:Catsperg2 APN 7 29,710,133 (GRCm38) missense probably damaging 0.98
IGL01791:Catsperg2 APN 7 29,704,665 (GRCm38) splice site probably null
IGL01961:Catsperg2 APN 7 29,721,672 (GRCm38) splice site probably benign
IGL02187:Catsperg2 APN 7 29,721,366 (GRCm38) missense probably benign 0.02
IGL02605:Catsperg2 APN 7 29,719,565 (GRCm38) missense possibly damaging 0.71
IGL03001:Catsperg2 APN 7 29,725,079 (GRCm38) missense probably benign 0.32
IGL03228:Catsperg2 APN 7 29,698,225 (GRCm38) missense probably damaging 0.96
IGL03239:Catsperg2 APN 7 29,697,716 (GRCm38) missense probably benign 0.04
IGL03242:Catsperg2 APN 7 29,725,479 (GRCm38) unclassified probably benign
IGL03256:Catsperg2 APN 7 29,709,874 (GRCm38) missense probably damaging 0.99
PIT4520001:Catsperg2 UTSW 7 29,710,161 (GRCm38) missense possibly damaging 0.93
R0052:Catsperg2 UTSW 7 29,725,020 (GRCm38) splice site probably benign
R0281:Catsperg2 UTSW 7 29,706,571 (GRCm38) missense possibly damaging 0.86
R0357:Catsperg2 UTSW 7 29,714,901 (GRCm38) missense possibly damaging 0.93
R0480:Catsperg2 UTSW 7 29,721,298 (GRCm38) missense probably damaging 0.98
R0578:Catsperg2 UTSW 7 29,704,691 (GRCm38) missense possibly damaging 0.71
R0732:Catsperg2 UTSW 7 29,700,696 (GRCm38) missense probably damaging 1.00
R0826:Catsperg2 UTSW 7 29,705,624 (GRCm38) missense possibly damaging 0.92
R1535:Catsperg2 UTSW 7 29,698,246 (GRCm38) missense possibly damaging 0.85
R1925:Catsperg2 UTSW 7 29,697,764 (GRCm38) missense probably benign 0.01
R1990:Catsperg2 UTSW 7 29,721,045 (GRCm38) nonsense probably null
R3433:Catsperg2 UTSW 7 29,701,218 (GRCm38) missense possibly damaging 0.71
R3721:Catsperg2 UTSW 7 29,705,102 (GRCm38) missense probably benign 0.02
R4020:Catsperg2 UTSW 7 29,717,004 (GRCm38) missense probably damaging 0.99
R4760:Catsperg2 UTSW 7 29,705,635 (GRCm38) missense probably damaging 0.99
R4829:Catsperg2 UTSW 7 29,701,125 (GRCm38) missense probably damaging 0.98
R5033:Catsperg2 UTSW 7 29,710,134 (GRCm38) missense possibly damaging 0.93
R5093:Catsperg2 UTSW 7 29,716,998 (GRCm38) missense probably benign 0.32
R5266:Catsperg2 UTSW 7 29,717,066 (GRCm38) missense probably damaging 0.98
R5267:Catsperg2 UTSW 7 29,717,066 (GRCm38) missense probably damaging 0.98
R5287:Catsperg2 UTSW 7 29,697,838 (GRCm38) missense possibly damaging 0.96
R5427:Catsperg2 UTSW 7 29,714,850 (GRCm38) missense possibly damaging 0.71
R5575:Catsperg2 UTSW 7 29,705,590 (GRCm38) missense possibly damaging 0.84
R5685:Catsperg2 UTSW 7 29,701,188 (GRCm38) missense probably damaging 1.00
R5844:Catsperg2 UTSW 7 29,697,832 (GRCm38) missense possibly damaging 0.96
R5982:Catsperg2 UTSW 7 29,713,017 (GRCm38) missense possibly damaging 0.51
R6662:Catsperg2 UTSW 7 29,719,513 (GRCm38) start gained probably benign
R6744:Catsperg2 UTSW 7 29,709,819 (GRCm38) missense probably benign 0.23
R7171:Catsperg2 UTSW 7 29,705,325 (GRCm38) missense possibly damaging 0.71
R7239:Catsperg2 UTSW 7 29,710,082 (GRCm38) missense probably benign 0.00
R7336:Catsperg2 UTSW 7 29,706,601 (GRCm38) missense possibly damaging 0.83
R7498:Catsperg2 UTSW 7 29,717,102 (GRCm38) missense possibly damaging 0.71
R7548:Catsperg2 UTSW 7 29,709,826 (GRCm38) missense probably benign 0.32
R7562:Catsperg2 UTSW 7 29,697,719 (GRCm38) missense probably benign 0.18
R7565:Catsperg2 UTSW 7 29,712,981 (GRCm38) missense probably null 0.71
R7600:Catsperg2 UTSW 7 29,704,858 (GRCm38) missense probably benign 0.32
R8460:Catsperg2 UTSW 7 29,705,319 (GRCm38) missense possibly damaging 0.92
R8461:Catsperg2 UTSW 7 29,705,319 (GRCm38) missense possibly damaging 0.92
R8751:Catsperg2 UTSW 7 29,705,319 (GRCm38) missense possibly damaging 0.92
R8752:Catsperg2 UTSW 7 29,705,319 (GRCm38) missense possibly damaging 0.92
R8829:Catsperg2 UTSW 7 29,697,844 (GRCm38) missense probably benign 0.33
R8832:Catsperg2 UTSW 7 29,697,844 (GRCm38) missense probably benign 0.33
R9264:Catsperg2 UTSW 7 29,698,188 (GRCm38) missense possibly damaging 0.72
R9284:Catsperg2 UTSW 7 29,705,581 (GRCm38) critical splice donor site probably null
R9468:Catsperg2 UTSW 7 29,710,007 (GRCm38) critical splice donor site probably null
Z1177:Catsperg2 UTSW 7 29,697,782 (GRCm38) missense possibly damaging 0.96
Posted On 2016-08-02