Incidental Mutation 'R3433:Catsperg2'
ID 266296
Institutional Source Beutler Lab
Gene Symbol Catsperg2
Ensembl Gene ENSMUSG00000049123
Gene Name cation channel sperm associated auxiliary subunit gamma 2
Synonyms 1700067C01Rik, CATSPERG
MMRRC Submission 040651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R3433 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29697219-29727032 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29701218 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 696 (F696S)
Ref Sequence ENSEMBL: ENSMUSP00000147029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208371] [ENSMUST00000208607] [ENSMUST00000209126]
AlphaFold C6KI89
Predicted Effect probably benign
Transcript: ENSMUST00000061193
AA Change: F869S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: F869S

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: F696S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207483
Predicted Effect probably benign
Transcript: ENSMUST00000208371
AA Change: F237S

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000208607
Predicted Effect probably benign
Transcript: ENSMUST00000209126
AA Change: F869S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 120,294,232 (GRCm38) W1302R probably damaging Het
Abcf1 A G 17: 35,958,217 (GRCm38) Y689H probably benign Het
Adamtsl5 T C 10: 80,342,891 (GRCm38) T218A probably benign Het
Ahnak G T 19: 9,009,994 (GRCm38) V2881L probably benign Het
Atp6v1b1 C A 6: 83,743,092 (GRCm38) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm38) R1112S probably benign Het
Carmil3 A G 14: 55,507,694 (GRCm38) D1331G probably benign Het
Cd33 T C 7: 43,529,907 (GRCm38) T273A probably benign Het
Cenpf C T 1: 189,659,949 (GRCm38) C562Y probably damaging Het
Cep192 A G 18: 67,834,892 (GRCm38) R816G probably benign Het
Cnot11 G A 1: 39,545,187 (GRCm38) probably null Het
Col18a1 A G 10: 77,096,268 (GRCm38) L329P unknown Het
Dnah9 T C 11: 66,075,112 (GRCm38) M1693V possibly damaging Het
Fbxo41 A G 6: 85,477,631 (GRCm38) I701T probably damaging Het
Figla G T 6: 86,017,429 (GRCm38) R62L probably damaging Het
Gca T G 2: 62,689,974 (GRCm38) S159R probably damaging Het
Gkn3 C T 6: 87,383,525 (GRCm38) A163T probably damaging Het
Gm10845 C T 14: 79,863,411 (GRCm38) noncoding transcript Het
Gm5114 T C 7: 39,409,197 (GRCm38) K333E probably benign Het
Ift140 T C 17: 25,036,308 (GRCm38) I466T probably benign Het
Il6st A G 13: 112,503,831 (GRCm38) K653E probably damaging Het
Kansl2 A G 15: 98,528,861 (GRCm38) probably null Het
Kcnh7 T C 2: 62,721,917 (GRCm38) D910G probably benign Het
Leng8 C A 7: 4,142,132 (GRCm38) T177K probably benign Het
Lrrtm2 A C 18: 35,213,897 (GRCm38) S117R probably damaging Het
Megf8 G T 7: 25,360,124 (GRCm38) A2285S probably benign Het
Meiob T C 17: 24,816,597 (GRCm38) probably benign Het
Myo18a G T 11: 77,818,044 (GRCm38) probably null Het
Nars A T 18: 64,509,303 (GRCm38) M156K probably damaging Het
Ndor1 A G 2: 25,247,811 (GRCm38) S499P possibly damaging Het
Olfr1251 T C 2: 89,667,233 (GRCm38) I218V probably benign Het
Olfr458 G A 6: 42,460,954 (GRCm38) H22Y probably benign Het
Olfr47 A T 6: 43,235,673 (GRCm38) I22F probably damaging Het
Pcdh15 T G 10: 74,631,499 (GRCm38) S1715A probably benign Het
Ptprd C A 4: 76,086,011 (GRCm38) probably null Het
Ros1 A G 10: 52,091,108 (GRCm38) Y1668H probably benign Het
Rrbp1 A G 2: 143,952,280 (GRCm38) probably benign Het
Rtn4rl2 T C 2: 84,872,100 (GRCm38) Y376C probably damaging Het
Seh1l A C 18: 67,793,152 (GRCm38) K358T probably benign Het
Sema3e A T 5: 14,252,714 (GRCm38) Y751F probably benign Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Spred2 G T 11: 19,998,277 (GRCm38) E91* probably null Het
Sspo A T 6: 48,475,951 (GRCm38) probably null Het
Tcaf1 A G 6: 42,686,574 (GRCm38) V124A probably damaging Het
Tnks1bp1 T C 2: 85,071,016 (GRCm38) probably benign Het
Txndc11 T C 16: 11,088,188 (GRCm38) T493A probably benign Het
Usp17lb T A 7: 104,841,648 (GRCm38) Q23L possibly damaging Het
Vgf T C 5: 137,031,019 (GRCm38) F12L probably benign Het
Zfp13 G A 17: 23,576,628 (GRCm38) T323I probably damaging 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
IGL03247:Catsperg2 APN 7 29,717,048 (GRCm38) missense possibly damaging 0.71
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
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
Predicted Primers PCR Primer
(F):5'- GCACTAAATCTGAGAGAAGGGAT -3'
(R):5'- ACAGAGGAGTCTATCTCATAAACCAA -3'

Sequencing Primer
(F):5'- TGGAACACACAGTCGCG -3'
(R):5'- CTTCTGGCATGCAGGAGTACATAC -3'
Posted On 2015-02-18