Incidental Mutation 'R5844:Catsperg2'
ID 450593
Institutional Source Beutler Lab
Gene Symbol Catsperg2
Ensembl Gene ENSMUSG00000049123
Gene Name cation channel sperm associated auxiliary subunit gamma 2
Synonyms CATSPERG, 1700067C01Rik
MMRRC Submission 044062-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5844 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29396644-29426457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29397257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1082 (L1082Q)
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: L1082Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: L1082Q

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 probably benign
Transcript: ENSMUST00000207115
Predicted Effect probably benign
Transcript: ENSMUST00000208371
Predicted Effect probably benign
Transcript: ENSMUST00000208607
Predicted Effect possibly damaging
Transcript: ENSMUST00000209126
AA Change: L1082Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,950,065 (GRCm39) M1321L probably benign Het
Adra1a C T 14: 66,965,183 (GRCm39) T391I probably benign Het
Atf7ip C A 6: 136,583,812 (GRCm39) A1281D probably damaging Het
BC005624 T C 2: 30,866,023 (GRCm39) N141S probably benign Het
Cavin2 C T 1: 51,328,998 (GRCm39) R152C probably damaging Het
Ccdc33 C T 9: 57,940,489 (GRCm39) probably benign Het
Cfap43 T C 19: 47,784,135 (GRCm39) D466G probably benign Het
Cfap46 C A 7: 139,230,858 (GRCm39) M923I probably damaging Het
Chd1l T A 3: 97,479,883 (GRCm39) K621N probably benign Het
Cnksr1 A G 4: 133,955,575 (GRCm39) probably benign Het
Cym T C 3: 107,127,080 (GRCm39) H25R probably benign Het
Dagla T A 19: 10,248,489 (GRCm39) D57V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dse T A 10: 34,029,038 (GRCm39) D684V probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo10 A T 4: 45,058,760 (GRCm39) S326T probably benign Het
Galntl5 G T 5: 25,391,091 (GRCm39) probably benign Het
Grm5 A G 7: 87,453,232 (GRCm39) R290G possibly damaging Het
Gtpbp3 A G 8: 71,945,199 (GRCm39) T425A probably benign Het
Hepacam2 A G 6: 3,476,073 (GRCm39) I284T probably damaging Het
Ifi205 A C 1: 173,854,258 (GRCm39) probably null Het
Irs3 T C 5: 137,642,548 (GRCm39) T297A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map4k4 T A 1: 40,039,036 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,697,542 (GRCm39) S782G probably benign Het
Mis18a G A 16: 90,523,969 (GRCm39) silent Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Myom2 G A 8: 15,181,182 (GRCm39) probably null Het
Ntaq1 A G 15: 58,017,056 (GRCm39) N157S probably benign Het
Or13a1 A T 6: 116,470,900 (GRCm39) E110V probably damaging Het
Or5g25 A G 2: 85,478,239 (GRCm39) V142A probably benign Het
Pde3b C T 7: 114,108,106 (GRCm39) T568I probably benign Het
Pip4p1 T C 14: 51,166,499 (GRCm39) T160A probably benign Het
Pkhd1 G T 1: 20,451,685 (GRCm39) D2203E probably benign Het
Ppp1r36 A G 12: 76,473,566 (GRCm39) K66E possibly damaging Het
Rfc1 C A 5: 65,451,130 (GRCm39) M319I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Runx1t1 T C 4: 13,881,068 (GRCm39) V456A probably damaging Het
Rxfp2 A G 5: 149,966,589 (GRCm39) K109R probably benign Het
Sgo2a T G 1: 58,055,556 (GRCm39) V580G probably damaging Het
Skint9 T C 4: 112,271,080 (GRCm39) Q110R probably benign Het
Slc38a9 A G 13: 112,868,035 (GRCm39) Y507C probably damaging Het
Smarca4 T A 9: 21,589,238 (GRCm39) probably benign Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tns3 A C 11: 8,384,580 (GRCm39) F1413V probably damaging Het
Trpm8 T C 1: 88,312,433 (GRCm39) *1105Q probably null Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zim1 T C 7: 6,681,115 (GRCm39) R183G probably benign Het
Zmiz1 T C 14: 25,657,354 (GRCm39) S871P probably damaging Het
Other mutations in Catsperg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Catsperg2 APN 7 29,404,829 (GRCm39) missense possibly damaging 0.86
IGL00095:Catsperg2 APN 7 29,397,483 (GRCm39) missense possibly damaging 0.73
IGL00902:Catsperg2 APN 7 29,400,568 (GRCm39) missense possibly damaging 0.93
IGL01667:Catsperg2 APN 7 29,409,558 (GRCm39) missense probably damaging 0.98
IGL01791:Catsperg2 APN 7 29,404,090 (GRCm39) splice site probably null
IGL01961:Catsperg2 APN 7 29,421,097 (GRCm39) splice site probably benign
IGL02187:Catsperg2 APN 7 29,420,791 (GRCm39) missense probably benign 0.02
IGL02605:Catsperg2 APN 7 29,418,990 (GRCm39) missense possibly damaging 0.71
IGL03001:Catsperg2 APN 7 29,424,504 (GRCm39) missense probably benign 0.32
IGL03228:Catsperg2 APN 7 29,397,650 (GRCm39) missense probably damaging 0.96
IGL03239:Catsperg2 APN 7 29,397,141 (GRCm39) missense probably benign 0.04
IGL03242:Catsperg2 APN 7 29,424,904 (GRCm39) unclassified probably benign
IGL03247:Catsperg2 APN 7 29,416,473 (GRCm39) missense possibly damaging 0.71
IGL03256:Catsperg2 APN 7 29,409,299 (GRCm39) missense probably damaging 0.99
PIT4520001:Catsperg2 UTSW 7 29,409,586 (GRCm39) missense possibly damaging 0.93
R0052:Catsperg2 UTSW 7 29,424,445 (GRCm39) splice site probably benign
R0281:Catsperg2 UTSW 7 29,405,996 (GRCm39) missense possibly damaging 0.86
R0357:Catsperg2 UTSW 7 29,414,326 (GRCm39) missense possibly damaging 0.93
R0480:Catsperg2 UTSW 7 29,420,723 (GRCm39) missense probably damaging 0.98
R0578:Catsperg2 UTSW 7 29,404,116 (GRCm39) missense possibly damaging 0.71
R0732:Catsperg2 UTSW 7 29,400,121 (GRCm39) missense probably damaging 1.00
R0826:Catsperg2 UTSW 7 29,405,049 (GRCm39) missense possibly damaging 0.92
R1535:Catsperg2 UTSW 7 29,397,671 (GRCm39) missense possibly damaging 0.85
R1925:Catsperg2 UTSW 7 29,397,189 (GRCm39) missense probably benign 0.01
R1990:Catsperg2 UTSW 7 29,420,470 (GRCm39) nonsense probably null
R3433:Catsperg2 UTSW 7 29,400,643 (GRCm39) missense possibly damaging 0.71
R3721:Catsperg2 UTSW 7 29,404,527 (GRCm39) missense probably benign 0.02
R4020:Catsperg2 UTSW 7 29,416,429 (GRCm39) missense probably damaging 0.99
R4760:Catsperg2 UTSW 7 29,405,060 (GRCm39) missense probably damaging 0.99
R4829:Catsperg2 UTSW 7 29,400,550 (GRCm39) missense probably damaging 0.98
R5033:Catsperg2 UTSW 7 29,409,559 (GRCm39) missense possibly damaging 0.93
R5093:Catsperg2 UTSW 7 29,416,423 (GRCm39) missense probably benign 0.32
R5266:Catsperg2 UTSW 7 29,416,491 (GRCm39) missense probably damaging 0.98
R5267:Catsperg2 UTSW 7 29,416,491 (GRCm39) missense probably damaging 0.98
R5287:Catsperg2 UTSW 7 29,397,263 (GRCm39) missense possibly damaging 0.96
R5427:Catsperg2 UTSW 7 29,414,275 (GRCm39) missense possibly damaging 0.71
R5575:Catsperg2 UTSW 7 29,405,015 (GRCm39) missense possibly damaging 0.84
R5685:Catsperg2 UTSW 7 29,400,613 (GRCm39) missense probably damaging 1.00
R5982:Catsperg2 UTSW 7 29,412,442 (GRCm39) missense possibly damaging 0.51
R6662:Catsperg2 UTSW 7 29,418,938 (GRCm39) start gained probably benign
R6744:Catsperg2 UTSW 7 29,409,244 (GRCm39) missense probably benign 0.23
R7171:Catsperg2 UTSW 7 29,404,750 (GRCm39) missense possibly damaging 0.71
R7239:Catsperg2 UTSW 7 29,409,507 (GRCm39) missense probably benign 0.00
R7336:Catsperg2 UTSW 7 29,406,026 (GRCm39) missense possibly damaging 0.83
R7498:Catsperg2 UTSW 7 29,416,527 (GRCm39) missense possibly damaging 0.71
R7548:Catsperg2 UTSW 7 29,409,251 (GRCm39) missense probably benign 0.32
R7562:Catsperg2 UTSW 7 29,397,144 (GRCm39) missense probably benign 0.18
R7565:Catsperg2 UTSW 7 29,412,406 (GRCm39) missense probably null 0.71
R7600:Catsperg2 UTSW 7 29,404,283 (GRCm39) missense probably benign 0.32
R8460:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8461:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8751:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8752:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8829:Catsperg2 UTSW 7 29,397,269 (GRCm39) missense probably benign 0.33
R8832:Catsperg2 UTSW 7 29,397,269 (GRCm39) missense probably benign 0.33
R9264:Catsperg2 UTSW 7 29,397,613 (GRCm39) missense possibly damaging 0.72
R9284:Catsperg2 UTSW 7 29,405,006 (GRCm39) critical splice donor site probably null
R9468:Catsperg2 UTSW 7 29,409,432 (GRCm39) critical splice donor site probably null
Z1177:Catsperg2 UTSW 7 29,397,207 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- AACATTGTCCTCTTTCGAACCAG -3'
(R):5'- ACTGTGACTACAAGCTCACC -3'

Sequencing Primer
(F):5'- GTCCTCTTTCGAACCAGCTCTG -3'
(R):5'- ACCTTTATAGTGCACATCCATGGG -3'
Posted On 2016-12-20