Incidental Mutation 'R7132:Cracr2b'
ID 552750
Institutional Source Beutler Lab
Gene Symbol Cracr2b
Ensembl Gene ENSMUSG00000048200
Gene Name calcium release activated channel regulator 2B
Synonyms Efcab4a, 6330520A15Rik
MMRRC Submission 045217-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7132 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 141041007-141046526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 141043651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 84 (A84V)
Ref Sequence ENSEMBL: ENSMUSP00000055899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000106000] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000165194] [ENSMUST00000167491] [ENSMUST00000169665] [ENSMUST00000170879] [ENSMUST00000172215] [ENSMUST00000177840] [ENSMUST00000209892] [ENSMUST00000209988] [ENSMUST00000211071]
AlphaFold Q80ZJ8
Predicted Effect probably benign
Transcript: ENSMUST00000026583
SMART Domains Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 69 4.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053670
AA Change: A84V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
AA Change: A84V

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
EFh 32 60 2.71e0 SMART
EFh 66 94 2.63e0 SMART
low complexity region 108 126 N/A INTRINSIC
coiled coil region 167 312 N/A INTRINSIC
low complexity region 324 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064151
SMART Domains Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 179 1.8e-15 PFAM
low complexity region 409 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106000
SMART Domains Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 248 1.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116247
Predicted Effect probably benign
Transcript: ENSMUST00000164016
SMART Domains Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 179 3.3e-15 PFAM
low complexity region 243 287 N/A INTRINSIC
low complexity region 465 481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164924
SMART Domains Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 69 4.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165194
Predicted Effect probably benign
Transcript: ENSMUST00000167491
AA Change: A84V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200
AA Change: A84V

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
EFh 32 60 2.71e0 SMART
EFh 66 94 2.63e0 SMART
low complexity region 108 126 N/A INTRINSIC
coiled coil region 167 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169665
SMART Domains Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 249 3.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170879
AA Change: A84V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200
AA Change: A84V

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
EFh 32 60 2.71e0 SMART
EFh 66 94 2.63e0 SMART
low complexity region 108 126 N/A INTRINSIC
coiled coil region 167 219 N/A INTRINSIC
low complexity region 236 249 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172215
AA Change: A84V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200
AA Change: A84V

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
EFh 32 60 2.71e0 SMART
EFh 66 94 2.63e0 SMART
low complexity region 108 126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177840
SMART Domains Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 248 1.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209892
Predicted Effect probably benign
Transcript: ENSMUST00000209988
Predicted Effect probably benign
Transcript: ENSMUST00000211071
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C T 10: 69,825,744 (GRCm39) A1471V Het
Ankrd12 C A 17: 66,290,242 (GRCm39) M1730I probably benign Het
Ap2a2 T C 7: 141,199,478 (GRCm39) Y462H probably benign Het
Ap5b1 T A 19: 5,619,412 (GRCm39) Y277* probably null Het
App T C 16: 84,853,370 (GRCm39) D236G unknown Het
Arid2 A T 15: 96,247,894 (GRCm39) K102I possibly damaging Het
Asl A G 5: 130,043,543 (GRCm39) V211A possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cbx2 A G 11: 118,913,947 (GRCm39) S5G probably benign Het
Ccdc183 A G 2: 25,506,542 (GRCm39) probably null Het
Cd72 T C 4: 43,452,444 (GRCm39) Q183R possibly damaging Het
Cdh26 T A 2: 178,128,555 (GRCm39) D702E possibly damaging Het
Cfap61 A T 2: 145,951,870 (GRCm39) N784I probably damaging Het
Cgrrf1 G A 14: 47,091,321 (GRCm39) V282M probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cobll1 T G 2: 64,964,112 (GRCm39) K170Q probably damaging Het
Copg2 A T 6: 30,792,931 (GRCm39) V468D probably benign Het
Cyp2f2 A T 7: 26,831,993 (GRCm39) D416V probably benign Het
Dcaf10 T C 4: 45,342,391 (GRCm39) F75S probably benign Het
Eml3 G T 19: 8,918,392 (GRCm39) A829S probably benign Het
Entpd3 A G 9: 120,390,086 (GRCm39) T402A probably benign Het
Fer1l4 A T 2: 155,887,546 (GRCm39) V550E probably damaging Het
Fgb G A 3: 82,954,053 (GRCm39) R62* probably null Het
Fubp1 T A 3: 151,937,661 (GRCm39) probably null Het
Gdf3 A C 6: 122,583,283 (GRCm39) D361E probably damaging Het
Gm6685 A T 11: 28,289,330 (GRCm39) I162N probably damaging Het
Hmx2 A G 7: 131,157,645 (GRCm39) Y253C probably damaging Het
Ints2 G T 11: 86,108,580 (GRCm39) N922K probably benign Het
Ipo7 C T 7: 109,653,254 (GRCm39) L984F probably benign Het
Itgae A T 11: 73,002,184 (GRCm39) Y96F possibly damaging Het
Kalrn A G 16: 34,076,597 (GRCm39) V697A unknown Het
Kctd18 G A 1: 58,006,737 (GRCm39) R38* probably null Het
Kdm5b A G 1: 134,526,844 (GRCm39) D322G probably damaging Het
Ldb3 A G 14: 34,298,992 (GRCm39) Y211H probably benign Het
Limch1 T C 5: 67,111,028 (GRCm39) F85S probably damaging Het
Lrrn4 A T 2: 132,721,613 (GRCm39) L68* probably null Het
Lrwd1 A G 5: 136,152,129 (GRCm39) V616A possibly damaging Het
Nars1 A G 18: 64,640,841 (GRCm39) probably null Het
Nradd T C 9: 110,451,329 (GRCm39) D13G probably benign Het
Oacyl A T 18: 65,831,480 (GRCm39) N39I probably damaging Het
Onecut2 A T 18: 64,473,983 (GRCm39) H178L possibly damaging Het
Or9i14 T A 19: 13,792,786 (GRCm39) Q56L probably benign Het
Pcdhga4 A C 18: 37,820,430 (GRCm39) T660P probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,942,102 (GRCm39) I902F possibly damaging Het
Plod3 T C 5: 137,023,971 (GRCm39) L180S Het
Prrc2c A T 1: 162,508,850 (GRCm39) H2354Q possibly damaging Het
Pth2r A G 1: 65,361,225 (GRCm39) E58G probably benign Het
Rev1 G T 1: 38,110,530 (GRCm39) D573E possibly damaging Het
Sec24a A T 11: 51,605,963 (GRCm39) L696* probably null Het
Serpinb3c A G 1: 107,204,681 (GRCm39) S22P probably damaging Het
St18 A T 1: 6,929,351 (GRCm39) H81L Het
Stard9 A T 2: 120,509,859 (GRCm39) K266* probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Tcp10a C T 17: 7,612,351 (GRCm39) T381I probably benign Het
Tecpr2 T A 12: 110,881,806 (GRCm39) V125D probably damaging Het
Tmc2 T C 2: 130,074,329 (GRCm39) S341P possibly damaging Het
Tmem190 G A 7: 4,787,224 (GRCm39) V143I probably benign Het
Trap1 A G 16: 3,873,693 (GRCm39) Y288H probably benign Het
Trim39 T C 17: 36,571,547 (GRCm39) T404A probably benign Het
Ttn T A 2: 76,576,043 (GRCm39) K24950I probably damaging Het
Ttn G T 2: 76,774,696 (GRCm39) N2161K unknown Het
Unc13b T C 4: 43,215,757 (GRCm39) S19P probably benign Het
Uqcrc1 T A 9: 108,778,536 (GRCm39) I471N probably damaging Het
Wbp11 T C 6: 136,798,540 (GRCm39) T170A probably benign Het
Wnk4 A G 11: 101,152,026 (GRCm39) I177V probably benign Het
Zfp455 C A 13: 67,347,230 (GRCm39) P51T probably damaging Het
Zfp946 T C 17: 22,673,644 (GRCm39) Y133H probably benign Het
Zfp955a A T 17: 33,460,589 (GRCm39) Y514* probably null Het
Zzef1 T C 11: 72,808,697 (GRCm39) probably null Het
Other mutations in Cracr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Cracr2b APN 7 141,045,670 (GRCm39) unclassified probably benign
IGL02092:Cracr2b APN 7 141,044,869 (GRCm39) missense probably damaging 0.96
R0009:Cracr2b UTSW 7 141,043,672 (GRCm39) missense probably damaging 1.00
R0009:Cracr2b UTSW 7 141,043,672 (GRCm39) missense probably damaging 1.00
R0324:Cracr2b UTSW 7 141,043,659 (GRCm39) missense probably damaging 1.00
R0453:Cracr2b UTSW 7 141,044,176 (GRCm39) missense probably damaging 0.96
R0569:Cracr2b UTSW 7 141,044,848 (GRCm39) unclassified probably benign
R1386:Cracr2b UTSW 7 141,043,481 (GRCm39) missense probably damaging 1.00
R2061:Cracr2b UTSW 7 141,045,193 (GRCm39) missense probably damaging 0.96
R3605:Cracr2b UTSW 7 141,046,059 (GRCm39) missense possibly damaging 0.93
R3607:Cracr2b UTSW 7 141,046,059 (GRCm39) missense possibly damaging 0.93
R4674:Cracr2b UTSW 7 141,043,451 (GRCm39) missense probably damaging 0.98
R4675:Cracr2b UTSW 7 141,043,451 (GRCm39) missense probably damaging 0.98
R5401:Cracr2b UTSW 7 141,046,136 (GRCm39) makesense probably null
R6174:Cracr2b UTSW 7 141,044,749 (GRCm39) missense probably damaging 1.00
R7127:Cracr2b UTSW 7 141,045,695 (GRCm39) missense possibly damaging 0.73
R7303:Cracr2b UTSW 7 141,043,115 (GRCm39) unclassified probably benign
R7448:Cracr2b UTSW 7 141,044,118 (GRCm39) missense probably benign 0.26
R7965:Cracr2b UTSW 7 141,044,161 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTACTATGCGACAAGGATGC -3'
(R):5'- AGCCCATCCACTGTAGAGTAG -3'

Sequencing Primer
(F):5'- AAGGGCTTCATCACTCGTCAG -3'
(R):5'- CCATCCACTGTAGAGTAGCTGTG -3'
Posted On 2019-05-15