Incidental Mutation 'R1158:Carf'
ID101843
Institutional Source Beutler Lab
Gene Symbol Carf
Ensembl Gene ENSMUSG00000026017
Gene Namecalcium response factor
SynonymsAls2cr8
MMRRC Submission 039231-MU
Accession Numbers

Genbank: NM_139150; MGI: 2182269

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1158 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location60098247-60153953 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60147839 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 499 (K499E)
Ref Sequence ENSEMBL: ENSMUSP00000027171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]
Predicted Effect probably benign
Transcript: ENSMUST00000027171
AA Change: K499E

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: K499E

DomainStartEndE-ValueType
Pfam:ALS2CR8 227 457 6.4e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130075
Predicted Effect probably benign
Transcript: ENSMUST00000132949
Predicted Effect probably benign
Transcript: ENSMUST00000180952
AA Change: K534E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: K534E

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186107
SMART Domains Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017

DomainStartEndE-ValueType
low complexity region 239 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187978
AA Change: K534E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: K534E

DomainStartEndE-ValueType
Pfam:ALS2CR8 224 458 1.2e-64 PFAM
Meta Mutation Damage Score 0.1208 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele have aberrant learning and memory. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,310,283 V193A possibly damaging Het
Ahnak A C 19: 9,013,926 E4191D probably benign Het
BC024139 T A 15: 76,120,342 probably benign Het
Bpifb9a T G 2: 154,262,264 I209S probably benign Het
Bst1 T G 5: 43,840,492 probably null Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Casq2 A G 3: 102,116,883 E147G probably damaging Het
Cd8a T A 6: 71,373,728 V59D probably damaging Het
Chrm5 T C 2: 112,479,869 T301A probably benign Het
Cog5 G A 12: 31,870,057 probably benign Het
Csmd3 T C 15: 48,292,774 probably null Het
Dopey1 T C 9: 86,485,556 S31P probably damaging Het
Epb41 T C 4: 132,000,191 probably benign Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Gdpgp1 T C 7: 80,238,502 F94L probably benign Het
Gm10264 A T 12: 88,329,668 I139F unknown Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Htr3b T C 9: 48,936,090 K375R possibly damaging Het
Inhbe G A 10: 127,351,317 R77W probably damaging Het
Itgb8 T C 12: 119,202,496 E100G probably damaging Het
Jakmip1 T C 5: 37,091,128 V44A possibly damaging Het
Lrp12 A G 15: 39,878,431 V315A probably damaging Het
Lrp1b T A 2: 40,677,494 T305S unknown Het
Map3k2 A G 18: 32,217,158 T354A probably benign Het
Mmp16 T C 4: 17,987,726 probably null Het
Mphosph10 T C 7: 64,388,859 probably benign Het
Olfr1263 T A 2: 90,015,254 I108N possibly damaging Het
Olfr1297 T C 2: 111,621,741 E111G probably damaging Het
Olfr1328 A T 4: 118,934,417 C144S probably damaging Het
Olfr472 G A 7: 107,902,923 V69I possibly damaging Het
Olfr514 A G 7: 108,825,178 S274P probably damaging Het
Slc43a3 C A 2: 84,937,796 F37L probably benign Het
Slf2 G T 19: 44,931,416 A36S probably damaging Het
Sorcs1 T C 19: 50,144,160 probably benign Het
Thsd7b A C 1: 130,189,935 probably null Het
Tnfrsf18 A C 4: 156,028,282 I142L probably benign Het
Ttn A G 2: 76,802,511 probably benign Het
Tufm T A 7: 126,489,442 probably null Het
Vmn2r69 A T 7: 85,409,850 probably benign Het
Zfp385c T C 11: 100,629,883 probably benign Het
Zfp964 T A 8: 69,663,853 C368S unknown Het
Zswim8 G A 14: 20,721,668 probably benign Het
Other mutations in Carf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Carf APN 1 60124842 splice site probably benign
IGL00730:Carf APN 1 60147418 nonsense probably null
IGL00792:Carf APN 1 60126009 missense possibly damaging 0.73
IGL00913:Carf APN 1 60147955 missense probably benign 0.20
IGL01487:Carf APN 1 60109379 missense probably damaging 1.00
IGL02214:Carf APN 1 60148081 missense probably damaging 1.00
IGL03258:Carf APN 1 60109229 missense possibly damaging 0.93
IGL03285:Carf APN 1 60146154 missense probably damaging 1.00
3-1:Carf UTSW 1 60141468 missense possibly damaging 0.93
PIT4283001:Carf UTSW 1 60128002 missense probably benign 0.32
R0375:Carf UTSW 1 60144002 missense probably damaging 1.00
R0465:Carf UTSW 1 60131983 missense probably damaging 1.00
R0591:Carf UTSW 1 60125914 splice site probably benign
R1433:Carf UTSW 1 60124858 missense probably damaging 1.00
R1464:Carf UTSW 1 60125906 splice site probably benign
R1467:Carf UTSW 1 60127993 missense possibly damaging 0.58
R1467:Carf UTSW 1 60127993 missense possibly damaging 0.58
R1546:Carf UTSW 1 60126036 critical splice donor site probably null
R1801:Carf UTSW 1 60141505 missense possibly damaging 0.60
R1977:Carf UTSW 1 60146136 missense probably damaging 1.00
R2086:Carf UTSW 1 60109411 missense probably damaging 1.00
R2163:Carf UTSW 1 60147486 splice site probably benign
R2198:Carf UTSW 1 60141484 missense probably damaging 1.00
R2238:Carf UTSW 1 60148034 missense probably benign
R2981:Carf UTSW 1 60139232 missense probably damaging 1.00
R4090:Carf UTSW 1 60136347 missense possibly damaging 0.94
R4573:Carf UTSW 1 60148112 missense probably benign 0.39
R4737:Carf UTSW 1 60109318 missense probably benign 0.00
R4906:Carf UTSW 1 60141367 missense probably damaging 1.00
R4965:Carf UTSW 1 60150637 missense probably damaging 0.99
R5080:Carf UTSW 1 60150613 missense probably damaging 0.98
R5184:Carf UTSW 1 60108174 missense probably damaging 0.99
R5949:Carf UTSW 1 60139313 missense probably damaging 1.00
R6135:Carf UTSW 1 60147963 missense probably damaging 1.00
R6346:Carf UTSW 1 60141540 nonsense probably null
R6886:Carf UTSW 1 60136254 splice site probably null
R7115:Carf UTSW 1 60148150 missense probably damaging 1.00
R7228:Carf UTSW 1 60109394 missense probably damaging 0.99
Predicted Primers
Posted On2014-01-15