Incidental Mutation 'R1925:Catsperg2'
ID 213349
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 039943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1925 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29396644-29426457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29397189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1105 (M1105V)
Ref Sequence ENSEMBL: ENSMUSP00000147099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208371] [ENSMUST00000208607] [ENSMUST00000209126]
AlphaFold C6KI89
Predicted Effect probably benign
Transcript: ENSMUST00000061193
AA Change: M1105V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: M1105V

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 probably benign
Transcript: ENSMUST00000209126
AA Change: M1105V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,617,333 (GRCm39) H577R probably damaging Het
Acvr1 T C 2: 58,337,661 (GRCm39) M474V probably damaging Het
Adam1a A T 5: 121,657,513 (GRCm39) C593* probably null Het
Agap2 A G 10: 126,926,744 (GRCm39) N927S probably damaging Het
Ahctf1 T C 1: 179,598,218 (GRCm39) H958R probably damaging Het
Apaf1 A G 10: 90,835,581 (GRCm39) V1088A probably damaging Het
Brpf1 G T 6: 113,296,891 (GRCm39) K958N probably damaging Het
Cadps A G 14: 12,705,726 (GRCm38) I223T probably damaging Het
Clasp2 T A 9: 113,735,265 (GRCm39) F1033L possibly damaging Het
Col4a3 T A 1: 82,678,094 (GRCm39) I1232N unknown Het
Col4a3 T G 1: 82,689,595 (GRCm39) probably benign Het
Comtd1 T G 14: 21,897,731 (GRCm39) E134A probably damaging Het
Cyp2c55 A T 19: 39,022,821 (GRCm39) T320S probably benign Het
Dlx2 T C 2: 71,376,522 (GRCm39) N72S probably benign Het
Dnhd1 T A 7: 105,301,459 (GRCm39) V272E probably damaging Het
Dnhd1 T A 7: 105,323,061 (GRCm39) I523N probably damaging Het
Dpysl3 T A 18: 43,465,996 (GRCm39) I140F probably damaging Het
Elmod2 G A 8: 84,048,093 (GRCm39) A123V probably benign Het
Etv4 T C 11: 101,662,507 (GRCm39) probably benign Het
F3 A T 3: 121,523,032 (GRCm39) T81S probably damaging Het
Faf2 C T 13: 54,799,865 (GRCm39) A224V probably damaging Het
Fbn1 A T 2: 125,205,549 (GRCm39) M1109K probably damaging Het
Fnbp4 A G 2: 90,596,187 (GRCm39) E586G probably damaging Het
Gm10428 G T 11: 62,644,179 (GRCm39) probably benign Het
Gm5884 A T 6: 128,622,050 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,385,319 (GRCm39) noncoding transcript Het
Gtse1 T C 15: 85,757,939 (GRCm39) V515A probably benign Het
H2-M2 T C 17: 37,793,391 (GRCm39) E205G probably damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Il1r2 A G 1: 40,154,308 (GRCm39) Y225C probably damaging Het
Kcnq3 T G 15: 65,876,658 (GRCm39) D495A possibly damaging Het
Lrrc49 T C 9: 60,556,773 (GRCm39) N321D probably benign Het
Lztr1 G T 16: 17,341,247 (GRCm39) R291L probably damaging Het
Micu1 C T 10: 59,568,983 (GRCm39) probably benign Het
Msh5 C T 17: 35,248,928 (GRCm39) V702I probably benign Het
Myh1 T C 11: 67,101,996 (GRCm39) I792T probably benign Het
Nav1 T A 1: 135,534,967 (GRCm39) probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or11i1 C T 3: 106,729,688 (GRCm39) M62I probably damaging Het
Or5ac22 A G 16: 59,135,027 (GRCm39) S248P probably damaging Het
Or8u9 T C 2: 86,001,354 (GRCm39) D269G probably benign Het
Otof G C 5: 30,551,532 (GRCm39) N340K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Plek2 T A 12: 78,941,664 (GRCm39) Y155F probably damaging Het
Ppa1 T A 10: 61,487,388 (GRCm39) Y38* probably null Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Prmt9 T A 8: 78,303,968 (GRCm39) C684S possibly damaging Het
Rasl10a A G 11: 5,009,473 (GRCm39) D87G possibly damaging Het
Rtn4rl1 C A 11: 75,156,864 (GRCm39) P432Q probably benign Het
Scd4 T G 19: 44,329,823 (GRCm39) Y265D probably damaging Het
Scn5a C T 9: 119,358,085 (GRCm39) A719T probably benign Het
Sdk1 T A 5: 142,171,040 (GRCm39) F1968I probably benign Het
Sh3bp5 T C 14: 31,157,880 (GRCm39) E12G probably benign Het
Slc6a12 T A 6: 121,337,485 (GRCm39) F390I probably benign Het
Snapin A T 3: 90,397,539 (GRCm39) D77E possibly damaging Het
Sox2 G T 3: 34,704,820 (GRCm39) E86* probably null Het
Sparcl1 A G 5: 104,241,220 (GRCm39) L68P probably benign Het
Sptb T A 12: 76,669,027 (GRCm39) E562V probably damaging Het
Taar3 A T 10: 23,826,483 (GRCm39) H343L probably benign Het
Tanc1 T A 2: 59,555,095 (GRCm39) V51E possibly damaging Het
Tbc1d22a T C 15: 86,123,350 (GRCm39) S128P probably damaging Het
Thada A G 17: 84,751,927 (GRCm39) S350P probably benign Het
Tmem161b T C 13: 84,408,348 (GRCm39) V93A probably benign Het
Tnn T C 1: 159,924,799 (GRCm39) Y1185C probably damaging Het
Trim43a T C 9: 88,464,371 (GRCm39) V94A probably benign Het
Ttll12 C T 15: 83,465,976 (GRCm39) E407K probably benign Het
Ttn T C 2: 76,555,856 (GRCm39) E30383G probably damaging Het
Vmn1r29 T A 6: 58,285,087 (GRCm39) M269K possibly damaging Het
Vmn2r117 A G 17: 23,697,363 (GRCm39) S110P probably benign Het
Vmn2r6 C A 3: 64,463,698 (GRCm39) V290L possibly damaging Het
Vmn2r8 A T 5: 108,950,019 (GRCm39) L276Q probably damaging Het
Zan C A 5: 137,423,904 (GRCm39) C2665F unknown Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp983 A G 17: 21,880,933 (GRCm39) H287R 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
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
R5844:Catsperg2 UTSW 7 29,397,257 (GRCm39) missense possibly damaging 0.96
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'- GAGGCCTAAGGGTTCATGAG -3'
(R):5'- GACCTCCTTCATTGTTATGGTGAG -3'

Sequencing Primer
(F):5'- CCTAAGGGTTCATGAGGAAGAGTAC -3'
(R):5'- GCAGGGGGTTCACCTACTACTATAC -3'
Posted On 2014-07-14