Incidental Mutation 'IGL00902:Catsperg2'
ID27769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catsperg2
Ensembl Gene ENSMUSG00000049123
Gene Namecation channel sperm associated auxiliary subunit gamma 2
Synonyms1700067C01Rik, CATSPERG
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL00902
Quality Score
Status
Chromosome7
Chromosomal Location29697219-29727032 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29701143 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 262 (H262L)
Ref Sequence ENSEMBL: ENSMUSP00000146472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208371] [ENSMUST00000208607] [ENSMUST00000209126]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061193
AA Change: H894L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: H894L

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: H721L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207483
Predicted Effect possibly damaging
Transcript: ENSMUST00000208371
AA Change: H262L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000208607
Predicted Effect possibly damaging
Transcript: ENSMUST00000209126
AA Change: H894L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,041,345 G1001D probably damaging Het
Adamts7 T G 9: 90,188,794 probably null Het
Akap11 A G 14: 78,495,838 S1876P probably benign Het
Capn10 A G 1: 92,942,559 I256V probably benign Het
Col22a1 C A 15: 71,964,659 G509V probably damaging Het
Dab2ip T C 2: 35,717,112 F523S probably damaging Het
Dbnl G T 11: 5,798,105 A313S probably benign Het
Ddo T C 10: 40,647,554 V180A probably damaging Het
Enox1 A G 14: 77,582,404 M200V possibly damaging Het
Fabp6 G A 11: 43,598,716 R33C probably damaging Het
Gm9104 T C 17: 45,466,014 probably benign Het
Gspt1 C T 16: 11,232,579 V303I probably damaging Het
Igf2r C T 17: 12,700,358 C1469Y probably damaging Het
Igflr1 T C 7: 30,567,275 S183P possibly damaging Het
Itga6 T C 2: 71,849,394 V1001A probably benign Het
Itih1 G A 14: 30,932,482 probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrp5 T C 19: 3,600,774 N1220S probably damaging Het
March6 A G 15: 31,484,978 Y434H probably damaging Het
Mbd1 A G 18: 74,275,239 Y211C possibly damaging Het
Mpeg1 C A 19: 12,461,769 A197D probably damaging Het
Mroh2b T A 15: 4,915,222 L435Q probably damaging Het
Mss51 A C 14: 20,486,167 M160R probably damaging Het
Ndufs7 T G 10: 80,256,005 Y190* probably null Het
Olfr1015 T C 2: 85,786,117 M202T probably benign Het
Olfr768 T A 10: 129,093,396 I193L probably benign Het
Pcdh17 A G 14: 84,446,849 E252G probably damaging Het
Ric1 T C 19: 29,567,231 V151A probably benign Het
Sgo2a A G 1: 58,016,099 T481A probably benign Het
Slc5a8 A G 10: 88,919,461 T477A probably benign Het
Smg5 G A 3: 88,353,085 V661I probably benign Het
Snx19 A T 9: 30,428,732 I389F possibly damaging Het
Spem1 A T 11: 69,821,817 I64N probably damaging Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Thada A T 17: 84,447,976 M262K probably damaging Het
Uox A G 3: 146,610,406 D32G possibly damaging Het
Usp42 A T 5: 143,719,874 probably benign Het
Usp43 G A 11: 67,891,419 P391L probably benign Het
Vmn2r56 T C 7: 12,715,499 S271G probably benign Het
Wdr64 T A 1: 175,728,825 C213S probably damaging Het
Zfp26 A T 9: 20,439,548 S194T possibly damaging Het
Other mutations in Catsperg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Catsperg2 APN 7 29705404 missense possibly damaging 0.86
IGL00095:Catsperg2 APN 7 29698058 missense possibly damaging 0.73
IGL01667:Catsperg2 APN 7 29710133 missense probably damaging 0.98
IGL01791:Catsperg2 APN 7 29704665 splice site probably null
IGL01961:Catsperg2 APN 7 29721672 splice site probably benign
IGL02187:Catsperg2 APN 7 29721366 missense probably benign 0.02
IGL02605:Catsperg2 APN 7 29719565 missense possibly damaging 0.71
IGL03001:Catsperg2 APN 7 29725079 missense probably benign 0.32
IGL03228:Catsperg2 APN 7 29698225 missense probably damaging 0.96
IGL03239:Catsperg2 APN 7 29697716 missense probably benign 0.04
IGL03242:Catsperg2 APN 7 29725479 unclassified probably benign
IGL03247:Catsperg2 APN 7 29717048 missense possibly damaging 0.71
IGL03256:Catsperg2 APN 7 29709874 missense probably damaging 0.99
PIT4520001:Catsperg2 UTSW 7 29710161 missense possibly damaging 0.93
R0052:Catsperg2 UTSW 7 29725020 splice site probably benign
R0281:Catsperg2 UTSW 7 29706571 missense possibly damaging 0.86
R0357:Catsperg2 UTSW 7 29714901 missense possibly damaging 0.93
R0480:Catsperg2 UTSW 7 29721298 missense probably damaging 0.98
R0578:Catsperg2 UTSW 7 29704691 missense possibly damaging 0.71
R0732:Catsperg2 UTSW 7 29700696 missense probably damaging 1.00
R0826:Catsperg2 UTSW 7 29705624 missense possibly damaging 0.92
R1535:Catsperg2 UTSW 7 29698246 missense possibly damaging 0.85
R1925:Catsperg2 UTSW 7 29697764 missense probably benign 0.01
R1990:Catsperg2 UTSW 7 29721045 nonsense probably null
R3433:Catsperg2 UTSW 7 29701218 missense possibly damaging 0.71
R3721:Catsperg2 UTSW 7 29705102 missense probably benign 0.02
R4020:Catsperg2 UTSW 7 29717004 missense probably damaging 0.99
R4760:Catsperg2 UTSW 7 29705635 missense probably damaging 0.99
R4829:Catsperg2 UTSW 7 29701125 missense probably damaging 0.98
R5033:Catsperg2 UTSW 7 29710134 missense possibly damaging 0.93
R5093:Catsperg2 UTSW 7 29716998 missense probably benign 0.32
R5266:Catsperg2 UTSW 7 29717066 missense probably damaging 0.98
R5267:Catsperg2 UTSW 7 29717066 missense probably damaging 0.98
R5287:Catsperg2 UTSW 7 29697838 missense possibly damaging 0.96
R5427:Catsperg2 UTSW 7 29714850 missense possibly damaging 0.71
R5575:Catsperg2 UTSW 7 29705590 missense possibly damaging 0.84
R5685:Catsperg2 UTSW 7 29701188 missense probably damaging 1.00
R5844:Catsperg2 UTSW 7 29697832 missense possibly damaging 0.96
R5982:Catsperg2 UTSW 7 29713017 missense possibly damaging 0.51
R6662:Catsperg2 UTSW 7 29719513 start gained probably benign
R6744:Catsperg2 UTSW 7 29709819 missense probably benign 0.23
R7171:Catsperg2 UTSW 7 29705325 missense possibly damaging 0.71
R7239:Catsperg2 UTSW 7 29710082 missense probably benign 0.00
R7336:Catsperg2 UTSW 7 29706601 missense possibly damaging 0.83
R7498:Catsperg2 UTSW 7 29717102 missense possibly damaging 0.71
R7548:Catsperg2 UTSW 7 29709826 missense probably benign 0.32
R7562:Catsperg2 UTSW 7 29697719 missense probably benign 0.18
R7565:Catsperg2 UTSW 7 29712981 missense probably null 0.71
R7600:Catsperg2 UTSW 7 29704858 missense probably benign 0.32
Z1177:Catsperg2 UTSW 7 29697782 missense possibly damaging 0.96
Posted On2013-04-17