Incidental Mutation 'R6424:Cr1l'
ID 518255
Institutional Source Beutler Lab
Gene Symbol Cr1l
Ensembl Gene ENSMUSG00000016481
Gene Name complement C3b/C4b receptor 1 like
Synonyms Crry, mCRY
MMRRC Submission 044387-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 194781019-194813878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 194800123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 184 (F184V)
Ref Sequence ENSEMBL: ENSMUSP00000074902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000194062] [ENSMUST00000194111]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075451
AA Change: F184V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: F184V

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
CCP 42 98 3.51e-6 SMART
CCP 103 160 1.61e-14 SMART
CCP 165 231 7.92e-14 SMART
CCP 237 293 5.23e-14 SMART
CCP 299 355 6.69e-12 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000191775
AA Change: F124V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: F124V

DomainStartEndE-ValueType
Pfam:Sushi 1 38 9e-6 PFAM
CCP 43 100 8e-17 SMART
CCP 105 171 3.9e-16 SMART
CCP 177 233 2.6e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000193094
AA Change: F184V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: F184V

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
CCP 42 98 1.7e-8 SMART
CCP 103 160 8e-17 SMART
CCP 165 231 3.9e-16 SMART
CCP 237 293 2.6e-16 SMART
CCP 299 355 3.3e-14 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194062
SMART Domains Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481

DomainStartEndE-ValueType
CCP 1 52 2.9e-9 SMART
CCP 58 114 3.3e-14 SMART
transmembrane domain 123 145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000194111
AA Change: F146V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: F146V

DomainStartEndE-ValueType
CCP 4 60 1.7e-8 SMART
CCP 65 122 8e-17 SMART
CCP 127 193 3.9e-16 SMART
CCP 199 255 2.6e-16 SMART
CCP 261 317 3.3e-14 SMART
transmembrane domain 326 348 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195586
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die by E16.5 with abnormal C3 deposition. Mice homozygous for a null allele activated in single positive thymocytes exhibit T cell lymphopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,542 (GRCm39) V4184A probably benign Het
Acvr2b T A 9: 119,231,645 (GRCm39) W12R probably benign Het
Arap2 T C 5: 62,840,707 (GRCm39) K720E probably damaging Het
Haus8 C T 8: 71,704,080 (GRCm39) W359* probably null Het
Insm2 A T 12: 55,646,867 (GRCm39) I204F probably damaging Het
Katnb1 T A 8: 95,820,144 (GRCm39) I97N probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Map2 A T 1: 66,453,946 (GRCm39) K945N possibly damaging Het
Meltf T A 16: 31,699,080 (GRCm39) C63* probably null Het
Nbas T C 12: 13,465,734 (GRCm39) probably null Het
Or5p1 G A 7: 107,916,412 (GRCm39) V104I probably benign Het
Raf1 T C 6: 115,596,542 (GRCm39) E594G probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Scgb2b19 A C 7: 32,978,022 (GRCm39) S92A possibly damaging Het
Serpinb3c T A 1: 107,199,359 (GRCm39) *387Y probably null Het
Shpk A T 11: 73,104,318 (GRCm39) I156F possibly damaging Het
Smarcd1 T C 15: 99,602,248 (GRCm39) F128L probably damaging Het
Tars3 G A 7: 65,305,487 (GRCm39) G237E probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Ttn T C 2: 76,719,848 (GRCm39) probably benign Het
Vmn1r223 T A 13: 23,434,345 (GRCm39) I313N probably damaging Het
Other mutations in Cr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cr1l APN 1 194,812,189 (GRCm39) missense possibly damaging 0.86
IGL01988:Cr1l APN 1 194,799,858 (GRCm39) missense probably damaging 1.00
IGL02412:Cr1l APN 1 194,797,074 (GRCm39) missense probably damaging 1.00
IGL02412:Cr1l APN 1 194,797,080 (GRCm39) missense probably damaging 0.97
IGL02707:Cr1l APN 1 194,806,019 (GRCm39) missense probably benign 0.03
IGL02726:Cr1l APN 1 194,812,188 (GRCm39) missense probably damaging 1.00
R0105:Cr1l UTSW 1 194,794,720 (GRCm39) splice site probably benign
R0153:Cr1l UTSW 1 194,797,164 (GRCm39) splice site probably benign
R0302:Cr1l UTSW 1 194,800,101 (GRCm39) missense probably damaging 0.99
R1444:Cr1l UTSW 1 194,813,510 (GRCm39) missense probably damaging 0.99
R1760:Cr1l UTSW 1 194,797,123 (GRCm39) missense probably benign 0.01
R2402:Cr1l UTSW 1 194,789,210 (GRCm39) missense probably benign 0.04
R4583:Cr1l UTSW 1 194,812,139 (GRCm39) missense probably damaging 0.97
R5977:Cr1l UTSW 1 194,797,076 (GRCm39) nonsense probably null
R6113:Cr1l UTSW 1 194,813,719 (GRCm39) unclassified probably benign
R6324:Cr1l UTSW 1 194,793,430 (GRCm39) missense probably benign 0.07
R7082:Cr1l UTSW 1 194,806,006 (GRCm39) missense probably benign 0.36
R7174:Cr1l UTSW 1 194,811,497 (GRCm39) missense probably benign 0.00
R7199:Cr1l UTSW 1 194,799,878 (GRCm39) missense probably benign 0.20
R7979:Cr1l UTSW 1 194,800,030 (GRCm39) missense probably damaging 1.00
R8104:Cr1l UTSW 1 194,799,925 (GRCm39) missense possibly damaging 0.80
R8958:Cr1l UTSW 1 194,812,243 (GRCm39) missense probably damaging 1.00
R9091:Cr1l UTSW 1 194,789,204 (GRCm39) missense possibly damaging 0.82
R9124:Cr1l UTSW 1 194,799,925 (GRCm39) missense possibly damaging 0.80
R9185:Cr1l UTSW 1 194,797,053 (GRCm39) missense probably damaging 1.00
R9199:Cr1l UTSW 1 194,786,177 (GRCm39) missense probably benign 0.00
R9265:Cr1l UTSW 1 194,806,027 (GRCm39) missense probably benign 0.24
R9270:Cr1l UTSW 1 194,789,204 (GRCm39) missense possibly damaging 0.82
R9681:Cr1l UTSW 1 194,800,149 (GRCm39) missense probably damaging 0.97
X0020:Cr1l UTSW 1 194,812,161 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGACTGCATTTTCAACATAGGGAG -3'
(R):5'- AGTCAGAGCACATGTTATTGTATGC -3'

Sequencing Primer
(F):5'- TTTTCAACATAGGGAGGAGGAGTAC -3'
(R):5'- GTTATTGTATGCATCTAAATGGCAAC -3'
Posted On 2018-05-24