Incidental Mutation 'R1662:Catspere2'
ID 186809
Institutional Source Beutler Lab
Gene Symbol Catspere2
Ensembl Gene ENSMUSG00000091476
Gene Name cation channel sperm associated auxiliary subunit epsilon 2
Synonyms EG545391, Gm16432, Gm30473
MMRRC Submission 039698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1662 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 177810989-178000271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 177874552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 140 (K140E)
Ref Sequence ENSEMBL: ENSMUSP00000142187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094273] [ENSMUST00000192146]
AlphaFold A0A0A6YXX9
Predicted Effect unknown
Transcript: ENSMUST00000094273
AA Change: K140E
SMART Domains Protein: ENSMUSP00000091828
Gene: ENSMUSG00000091476
AA Change: K140E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191719
Predicted Effect unknown
Transcript: ENSMUST00000192146
AA Change: K140E
SMART Domains Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
AA Change: K140E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:CATSPERD 207 774 1.7e-200 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik T A 4: 126,505,475 (GRCm39) M1K probably null Het
5730507C01Rik A C 12: 18,581,967 (GRCm39) R119S possibly damaging Het
Abca1 T A 4: 53,090,251 (GRCm39) probably null Het
Aff1 G A 5: 103,988,923 (GRCm39) G830D probably damaging Het
AI987944 T C 7: 41,023,873 (GRCm39) T369A possibly damaging Het
Aoah A G 13: 21,184,283 (GRCm39) probably null Het
Arhgap40 C G 2: 158,381,190 (GRCm39) C349W probably damaging Het
Atic T A 1: 71,615,286 (GRCm39) D438E probably benign Het
Barhl2 A T 5: 106,601,365 (GRCm39) M338K probably benign Het
Btd T C 14: 31,388,747 (GRCm39) V156A probably damaging Het
Ccdc82 T C 9: 13,262,397 (GRCm39) V319A probably damaging Het
Celsr1 G T 15: 85,915,263 (GRCm39) N903K probably damaging Het
Cenpf T A 1: 189,389,968 (GRCm39) N1288I probably damaging Het
Ciao1 G A 2: 127,086,857 (GRCm39) T252I probably benign Het
Cma2 T C 14: 56,210,573 (GRCm39) C87R probably damaging Het
Cops7a T A 6: 124,939,401 (GRCm39) R83W probably damaging Het
Cxcr6 A T 9: 123,639,613 (GRCm39) M205L possibly damaging Het
Dcc A G 18: 71,553,409 (GRCm39) L749P probably benign Het
Dync1i2 C T 2: 71,081,323 (GRCm39) T484I possibly damaging Het
Epas1 A T 17: 87,136,455 (GRCm39) K742N probably damaging Het
Evc2 A G 5: 37,506,094 (GRCm39) T138A probably benign Het
F5 T C 1: 164,035,457 (GRCm39) I1877T probably damaging Het
Fat1 T G 8: 45,406,201 (GRCm39) V984G probably benign Het
Fat4 T A 3: 39,034,928 (GRCm39) V2860D probably damaging Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gapdhs C T 7: 30,436,427 (GRCm39) R120H probably damaging Het
Gcnt3 T C 9: 69,941,659 (GRCm39) D303G probably benign Het
Gng11 A T 6: 4,008,066 (GRCm39) Y43F probably benign Het
Hectd4 A C 5: 121,455,308 (GRCm39) M651L probably benign Het
Ifngr2 T A 16: 91,357,484 (GRCm39) Y200N probably benign Het
Iqgap3 T C 3: 88,005,708 (GRCm39) V512A probably benign Het
Kdm2a A C 19: 4,378,240 (GRCm39) D187E probably damaging Het
Klhl8 A G 5: 104,019,911 (GRCm39) V370A probably damaging Het
Kmt2a G A 9: 44,747,967 (GRCm39) probably benign Het
Krt12 C A 11: 99,311,650 (GRCm39) V184F probably benign Het
Lrrc8c A T 5: 105,754,623 (GRCm39) I133F probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1a C G 2: 121,136,889 (GRCm39) S2568R possibly damaging Het
Mbnl1 C A 3: 60,532,593 (GRCm39) Q301K probably damaging Het
Med12l A T 3: 59,001,038 (GRCm39) K724N probably damaging Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Mybph C T 1: 134,121,374 (GRCm39) P45S probably benign Het
Myo15a T A 11: 60,392,527 (GRCm39) S2157T probably damaging Het
Or14j2 G T 17: 37,886,164 (GRCm39) T50K probably damaging Het
Or1ab2 T C 8: 72,863,623 (GRCm39) V71A probably benign Het
Or2t35 T A 14: 14,407,880 (GRCm38) Y217* probably null Het
Or5h25 T C 16: 58,930,967 (GRCm39) E2G probably benign Het
Otogl A G 10: 107,634,218 (GRCm39) I1419T possibly damaging Het
Ovol1 A T 19: 5,601,667 (GRCm39) F118L probably damaging Het
Pak5 T C 2: 135,958,680 (GRCm39) D136G probably damaging Het
Pik3r2 T C 8: 71,223,250 (GRCm39) Y417C probably damaging Het
Ppp2r2a T C 14: 67,254,052 (GRCm39) N372S probably benign Het
Prss30 G T 17: 24,191,806 (GRCm39) N238K possibly damaging Het
Prss33 C A 17: 24,053,785 (GRCm39) probably null Het
Ptpn4 T C 1: 119,692,788 (GRCm39) E187G probably damaging Het
Ptprg A T 14: 12,207,357 (GRCm38) N100I probably damaging Het
Rbpms2 T C 9: 65,558,324 (GRCm39) V130A probably benign Het
Rdh7 A T 10: 127,724,481 (GRCm39) M1K probably null Het
Rtp3 A C 9: 110,815,751 (GRCm39) S205A probably benign Het
Ryr3 G T 2: 112,539,618 (GRCm39) D3207E probably damaging Het
Scn9a T A 2: 66,313,803 (GRCm39) T1972S probably benign Het
Scnn1b T C 7: 121,501,551 (GRCm39) V122A probably benign Het
Slc15a4 A G 5: 127,686,043 (GRCm39) L213S probably damaging Het
Slc27a5 T A 7: 12,725,173 (GRCm39) I425F probably damaging Het
Spata31d1b A G 13: 59,864,442 (GRCm39) D530G probably benign Het
Tcf25 T A 8: 124,108,289 (GRCm39) S115T probably benign Het
Tet2 A G 3: 133,172,613 (GRCm39) L1883P possibly damaging Het
Trim21 T A 7: 102,211,105 (GRCm39) R205* probably null Het
Ttc23 G T 7: 67,375,069 (GRCm39) probably null Het
Tut7 T C 13: 59,947,717 (GRCm39) E466G possibly damaging Het
Unc13d T C 11: 115,959,499 (GRCm39) K658R probably null Het
Vmn1r43 A G 6: 89,846,572 (GRCm39) F305L possibly damaging Het
Vmn2r2 A T 3: 64,024,551 (GRCm39) C677S probably benign Het
Wnt5a T C 14: 28,240,300 (GRCm39) M150T probably benign Het
Ythdc1 G A 5: 86,975,981 (GRCm39) probably null Het
Zdbf2 A T 1: 63,343,408 (GRCm39) R596* probably null Het
Other mutations in Catspere2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Catspere2 APN 1 177,842,687 (GRCm39) splice site probably benign
IGL02345:Catspere2 APN 1 177,842,754 (GRCm39) missense possibly damaging 0.46
R0089:Catspere2 UTSW 1 177,874,555 (GRCm39) missense unknown
R0103:Catspere2 UTSW 1 177,943,771 (GRCm39) missense unknown
R1491:Catspere2 UTSW 1 177,843,495 (GRCm39) missense possibly damaging 0.92
R1840:Catspere2 UTSW 1 177,830,581 (GRCm39) missense possibly damaging 0.90
R2168:Catspere2 UTSW 1 177,843,477 (GRCm39) splice site probably benign
R3764:Catspere2 UTSW 1 177,940,698 (GRCm39) missense unknown
R4586:Catspere2 UTSW 1 177,950,351 (GRCm39) missense possibly damaging 0.90
R4887:Catspere2 UTSW 1 177,931,515 (GRCm39) missense unknown
R4990:Catspere2 UTSW 1 177,925,987 (GRCm39) missense probably benign 0.14
R4991:Catspere2 UTSW 1 177,925,987 (GRCm39) missense probably benign 0.14
R5225:Catspere2 UTSW 1 177,976,474 (GRCm39) utr 3 prime probably benign
R5285:Catspere2 UTSW 1 177,931,454 (GRCm39) missense unknown
R5569:Catspere2 UTSW 1 177,939,162 (GRCm39) missense possibly damaging 0.82
R5743:Catspere2 UTSW 1 177,950,328 (GRCm39) splice site silent
R5756:Catspere2 UTSW 1 177,943,793 (GRCm39) missense unknown
R6050:Catspere2 UTSW 1 177,931,490 (GRCm39) missense unknown
R6166:Catspere2 UTSW 1 177,931,403 (GRCm39) missense unknown
R6200:Catspere2 UTSW 1 177,939,124 (GRCm39) missense possibly damaging 0.66
R6322:Catspere2 UTSW 1 177,845,296 (GRCm39) nonsense probably null
R6438:Catspere2 UTSW 1 177,938,869 (GRCm39) missense possibly damaging 0.92
R6736:Catspere2 UTSW 1 177,845,278 (GRCm39) nonsense probably null
R6879:Catspere2 UTSW 1 177,926,338 (GRCm39) missense possibly damaging 0.66
R6897:Catspere2 UTSW 1 177,939,139 (GRCm39) missense possibly damaging 0.66
R7030:Catspere2 UTSW 1 177,845,280 (GRCm39) missense probably damaging 0.97
R7335:Catspere2 UTSW 1 177,926,074 (GRCm39) missense probably benign 0.05
R7509:Catspere2 UTSW 1 177,905,078 (GRCm39) missense possibly damaging 0.66
R7896:Catspere2 UTSW 1 177,938,740 (GRCm39) missense probably benign 0.01
R7980:Catspere2 UTSW 1 177,830,610 (GRCm39) critical splice donor site probably null
R8079:Catspere2 UTSW 1 177,874,525 (GRCm39) missense probably benign 0.16
R8355:Catspere2 UTSW 1 177,845,276 (GRCm39) missense possibly damaging 0.92
R8360:Catspere2 UTSW 1 177,842,724 (GRCm39) missense possibly damaging 0.50
R8786:Catspere2 UTSW 1 177,843,555 (GRCm39) splice site probably benign
R8786:Catspere2 UTSW 1 177,843,362 (GRCm39) intron probably benign
R8810:Catspere2 UTSW 1 177,905,048 (GRCm39) missense possibly damaging 0.66
R9170:Catspere2 UTSW 1 177,967,949 (GRCm39) missense probably benign 0.07
R9252:Catspere2 UTSW 1 177,938,996 (GRCm39) missense possibly damaging 0.66
R9442:Catspere2 UTSW 1 177,931,275 (GRCm39) missense unknown
Z1177:Catspere2 UTSW 1 177,984,368 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- TCTAGTCCACGCATCCCCAACTTAG -3'
(R):5'- CAATGGAGATACTCGCAGGACATCC -3'

Sequencing Primer
(F):5'- GTTctcactccctctgtccatc -3'
(R):5'- GATACTCGCAGGACATCCTTAAAG -3'
Posted On 2014-05-09