Incidental Mutation 'R7616:Cracr2a'
ID 588909
Institutional Source Beutler Lab
Gene Symbol Cracr2a
Ensembl Gene ENSMUSG00000061414
Gene Name calcium release activated channel regulator 2A
Synonyms LOC243645, Efcab4b, LOC381812
MMRRC Submission 045716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7616 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 127561338-127674248 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 127608697 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 153 (Q153*)
Ref Sequence ENSEMBL: ENSMUSP00000071494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071563] [ENSMUST00000212051]
AlphaFold Q3UP38
Predicted Effect probably null
Transcript: ENSMUST00000071563
AA Change: Q153*
SMART Domains Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: Q153*

DomainStartEndE-ValueType
EFh 48 76 2.82e1 SMART
EFh 82 110 2.09e-4 SMART
coiled coil region 192 282 N/A INTRINSIC
low complexity region 295 307 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000212051
AA Change: Q153*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,989,454 (GRCm38) F290S probably benign Het
4931414P19Rik T C 14: 54,585,666 (GRCm38) D358G probably damaging Het
A630089N07Rik T A 16: 98,066,210 (GRCm38) Q184L probably damaging Het
Adam10 A G 9: 70,722,711 (GRCm38) R142G possibly damaging Het
Adgrb1 A G 15: 74,548,569 (GRCm38) T856A probably damaging Het
Angel1 A G 12: 86,717,736 (GRCm38) S493P probably benign Het
Arid1b C G 17: 4,995,386 (GRCm38) P150A unknown Het
Atp8b5 T A 4: 43,370,823 (GRCm38) probably null Het
Cbfa2t3 T G 8: 122,633,337 (GRCm38) Q525P possibly damaging Het
Clip4 T C 17: 71,834,273 (GRCm38) Y541H probably benign Het
Dsp G T 13: 38,191,482 (GRCm38) C1081F probably damaging Het
Dysf A G 6: 84,101,963 (GRCm38) D708G probably benign Het
Eif3d A T 15: 77,961,686 (GRCm38) D378E probably damaging Het
Etv1 T A 12: 38,865,606 (GRCm38) M424K probably damaging Het
Fam120b T G 17: 15,402,836 (GRCm38) S359A possibly damaging Het
Ffar2 A G 7: 30,819,932 (GRCm38) L61P probably damaging Het
Grm5 A T 7: 88,116,201 (GRCm38) D879V probably benign Het
Itpr3 C A 17: 27,088,977 (GRCm38) A246E probably damaging Het
Kmt2b G T 7: 30,582,208 (GRCm38) P1207Q probably damaging Het
Mamdc2 T A 19: 23,350,804 (GRCm38) Y400F probably damaging Het
Muc4 T A 16: 32,752,361 (GRCm38) Y746* probably null Het
Mylk T C 16: 34,879,557 (GRCm38) F430S probably damaging Het
Nek10 G A 14: 14,937,759 (GRCm38) C826Y probably benign Het
Nf1 T A 11: 79,384,266 (GRCm38) F51Y probably damaging Het
Olfr1117-ps1 T C 2: 87,285,273 (GRCm38) *328Q probably null Het
Phf2 T A 13: 48,807,607 (GRCm38) Y869F unknown Het
Psmb7 T C 2: 38,633,964 (GRCm38) Y133C possibly damaging Het
Ptcd2 G A 13: 99,344,699 (GRCm38) probably benign Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Slbp A T 5: 33,643,866 (GRCm38) I167N probably damaging Het
Slc2a2 A G 3: 28,727,111 (GRCm38) T433A probably benign Het
Snap91 T A 9: 86,839,621 (GRCm38) N55I probably damaging Het
Soga3 T C 10: 29,146,578 (GRCm38) probably benign Het
Stat4 A T 1: 52,013,878 (GRCm38) K73* probably null Het
Sult2a5 G A 7: 13,670,682 (GRCm38) M281I probably benign Het
Tenm3 A T 8: 48,341,049 (GRCm38) M647K possibly damaging Het
Trim66 T A 7: 109,483,749 (GRCm38) D162V probably damaging Het
Vangl1 A T 3: 102,184,065 (GRCm38) I235N probably damaging Het
Vmn1r175 T A 7: 23,808,606 (GRCm38) I199F possibly damaging Het
Vmn1r72 A G 7: 11,670,345 (GRCm38) S59P probably damaging Het
Wdr25 G A 12: 108,992,893 (GRCm38) G344S possibly damaging Het
Zfand2a A T 5: 139,478,566 (GRCm38) N61K probably damaging Het
Other mutations in Cracr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Cracr2a APN 6 127,629,930 (GRCm38) intron probably benign
PIT4812001:Cracr2a UTSW 6 127,625,870 (GRCm38) missense probably damaging 1.00
R0111:Cracr2a UTSW 6 127,604,061 (GRCm38) missense probably benign 0.00
R0180:Cracr2a UTSW 6 127,604,074 (GRCm38) critical splice donor site probably null
R1612:Cracr2a UTSW 6 127,603,929 (GRCm38) nonsense probably null
R1929:Cracr2a UTSW 6 127,607,298 (GRCm38) missense probably damaging 1.00
R2055:Cracr2a UTSW 6 127,608,601 (GRCm38) nonsense probably null
R2270:Cracr2a UTSW 6 127,607,298 (GRCm38) missense probably damaging 1.00
R2272:Cracr2a UTSW 6 127,607,298 (GRCm38) missense probably damaging 1.00
R2915:Cracr2a UTSW 6 127,611,505 (GRCm38) missense probably damaging 0.98
R4476:Cracr2a UTSW 6 127,629,819 (GRCm38) missense probably benign 0.18
R4600:Cracr2a UTSW 6 127,603,888 (GRCm38) missense probably benign 0.00
R4767:Cracr2a UTSW 6 127,611,507 (GRCm38) missense probably damaging 0.98
R5256:Cracr2a UTSW 6 127,604,029 (GRCm38) missense probably damaging 1.00
R5657:Cracr2a UTSW 6 127,604,007 (GRCm38) missense probably damaging 1.00
R5729:Cracr2a UTSW 6 127,607,236 (GRCm38) missense possibly damaging 0.88
R6437:Cracr2a UTSW 6 127,631,831 (GRCm38) missense probably damaging 0.96
R6572:Cracr2a UTSW 6 127,608,752 (GRCm38) splice site probably null
R6851:Cracr2a UTSW 6 127,608,716 (GRCm38) missense probably damaging 1.00
R7177:Cracr2a UTSW 6 127,608,706 (GRCm38) missense probably benign 0.00
R7809:Cracr2a UTSW 6 127,649,962 (GRCm38) missense probably benign
R8030:Cracr2a UTSW 6 127,611,423 (GRCm38) missense probably damaging 0.96
R8084:Cracr2a UTSW 6 127,639,172 (GRCm38) missense probably benign 0.26
R8731:Cracr2a UTSW 6 127,625,927 (GRCm38) critical splice donor site probably null
R8867:Cracr2a UTSW 6 127,629,773 (GRCm38) nonsense probably null
Z1177:Cracr2a UTSW 6 127,669,063 (GRCm38) missense probably damaging 1.00
Z1177:Cracr2a UTSW 6 127,607,244 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATGAATCCCTGAGACAGCGG -3'
(R):5'- TCCAAGCTGCCTCCAATGAG -3'

Sequencing Primer
(F):5'- AAGCCAAGTCCTCCCTGG -3'
(R):5'- CTCCAATGAGGGGCATCC -3'
Posted On 2019-10-24