Incidental Mutation 'R2915:Cracr2a'
ID 254842
Institutional Source Beutler Lab
Gene Symbol Cracr2a
Ensembl Gene ENSMUSG00000061414
Gene Name calcium release activated channel regulator 2A
Synonyms LOC243645, Efcab4b, LOC381812
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 127538299-127651197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127588468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 209 (K209R)
Ref Sequence ENSEMBL: ENSMUSP00000148569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071563] [ENSMUST00000212051]
AlphaFold Q3UP38
Predicted Effect possibly damaging
Transcript: ENSMUST00000071563
AA Change: K209R

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: K209R

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 noncoding transcript
Transcript: ENSMUST00000201303
SMART Domains Protein: ENSMUSP00000143930
Gene: ENSMUSG00000061414

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 damaging
Transcript: ENSMUST00000212051
AA Change: K209R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.1419 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null Het
Other mutations in Cracr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Cracr2a APN 6 127,606,893 (GRCm39) intron probably benign
PIT4812001:Cracr2a UTSW 6 127,602,833 (GRCm39) missense probably damaging 1.00
R0111:Cracr2a UTSW 6 127,581,024 (GRCm39) missense probably benign 0.00
R0180:Cracr2a UTSW 6 127,581,037 (GRCm39) critical splice donor site probably null
R1612:Cracr2a UTSW 6 127,580,892 (GRCm39) nonsense probably null
R1929:Cracr2a UTSW 6 127,584,261 (GRCm39) missense probably damaging 1.00
R2055:Cracr2a UTSW 6 127,585,564 (GRCm39) nonsense probably null
R2270:Cracr2a UTSW 6 127,584,261 (GRCm39) missense probably damaging 1.00
R2272:Cracr2a UTSW 6 127,584,261 (GRCm39) missense probably damaging 1.00
R4476:Cracr2a UTSW 6 127,606,782 (GRCm39) missense probably benign 0.18
R4600:Cracr2a UTSW 6 127,580,851 (GRCm39) missense probably benign 0.00
R4767:Cracr2a UTSW 6 127,588,470 (GRCm39) missense probably damaging 0.98
R5256:Cracr2a UTSW 6 127,580,992 (GRCm39) missense probably damaging 1.00
R5657:Cracr2a UTSW 6 127,580,970 (GRCm39) missense probably damaging 1.00
R5729:Cracr2a UTSW 6 127,584,199 (GRCm39) missense possibly damaging 0.88
R6437:Cracr2a UTSW 6 127,608,794 (GRCm39) missense probably damaging 0.96
R6572:Cracr2a UTSW 6 127,585,715 (GRCm39) splice site probably null
R6851:Cracr2a UTSW 6 127,585,679 (GRCm39) missense probably damaging 1.00
R7177:Cracr2a UTSW 6 127,585,669 (GRCm39) missense probably benign 0.00
R7616:Cracr2a UTSW 6 127,585,660 (GRCm39) nonsense probably null
R7809:Cracr2a UTSW 6 127,626,925 (GRCm39) missense probably benign
R8030:Cracr2a UTSW 6 127,588,386 (GRCm39) missense probably damaging 0.96
R8084:Cracr2a UTSW 6 127,616,135 (GRCm39) missense probably benign 0.26
R8731:Cracr2a UTSW 6 127,602,890 (GRCm39) critical splice donor site probably null
R8867:Cracr2a UTSW 6 127,606,736 (GRCm39) nonsense probably null
Z1177:Cracr2a UTSW 6 127,646,026 (GRCm39) missense probably damaging 1.00
Z1177:Cracr2a UTSW 6 127,584,207 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGGATGAGGTTTGCAGCCTTC -3'
(R):5'- TAATAAGGGTGAGCTGTGACTG -3'

Sequencing Primer
(F):5'- CGTCTGGAACCCCCATGTC -3'
(R):5'- GTGAGCTGTGACTGAAAAGC -3'
Posted On 2014-12-29