Incidental Mutation 'IGL02707:Cr1l'
ID 304408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cr1l
Ensembl Gene ENSMUSG00000016481
Gene Name complement C3b/C4b receptor 1 like
Synonyms Crry, mCRY
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02707
Quality Score
Status
Chromosome 1
Chromosomal Location 194781019-194813878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 194806019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 155 (T155A)
Ref Sequence ENSEMBL: ENSMUSP00000142309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000194111]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000075451
AA Change: T155A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: T155A

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 probably benign
Transcript: ENSMUST00000191775
AA Change: T95A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: T95A

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 probably benign
Transcript: ENSMUST00000193094
AA Change: T155A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: T155A

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 noncoding transcript
Transcript: ENSMUST00000193719
Predicted Effect probably benign
Transcript: ENSMUST00000194111
AA Change: T117A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: T117A

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,928 (GRCm39) T149A probably benign Het
4932414N04Rik A C 2: 68,561,474 (GRCm39) Q267P possibly damaging Het
Actr5 T C 2: 158,478,617 (GRCm39) V489A probably benign Het
Adam26b T C 8: 43,972,895 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,567 (GRCm39) N509S probably benign Het
Arhgap22 C T 14: 33,085,229 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,476 (GRCm39) H628Q probably damaging Het
Asap1 A T 15: 64,001,123 (GRCm39) I486N probably damaging Het
Asb15 A T 6: 24,558,787 (GRCm39) probably benign Het
Avil A G 10: 126,842,431 (GRCm39) D70G probably damaging Het
Cct6b T C 11: 82,645,780 (GRCm39) probably benign Het
Cep63 A T 9: 102,464,180 (GRCm39) I717K probably damaging Het
Chd4 G T 6: 125,085,730 (GRCm39) A875S probably damaging Het
Col4a4 A T 1: 82,471,237 (GRCm39) M706K unknown Het
Ctnna3 A G 10: 63,339,844 (GRCm39) N10S probably benign Het
Cubn A G 2: 13,450,843 (GRCm39) V854A probably damaging Het
Dgkh T C 14: 78,823,091 (GRCm39) T845A possibly damaging Het
F10 G A 8: 13,098,252 (GRCm39) A152T probably damaging Het
Gabrg3 C A 7: 56,632,439 (GRCm39) E170* probably null Het
Heatr5a A G 12: 51,968,149 (GRCm39) V829A probably benign Het
Htt T A 5: 34,987,225 (GRCm39) probably null Het
Icam4 T C 9: 20,941,770 (GRCm39) Y257H possibly damaging Het
Jph1 A G 1: 17,074,675 (GRCm39) S448P probably benign Het
Kansl1l G A 1: 66,812,604 (GRCm39) L125F probably damaging Het
Kifc1 A T 17: 34,100,467 (GRCm39) C46* probably null Het
Lce3b A G 3: 92,841,193 (GRCm39) D96G unknown Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mctp2 A G 7: 71,909,089 (GRCm39) Y75H possibly damaging Het
Mesp2 A G 7: 79,461,274 (GRCm39) I200V probably benign Het
Msr1 T C 8: 40,085,870 (GRCm39) probably benign Het
Mtfr2 C T 10: 20,224,084 (GRCm39) T6I probably benign Het
Myo5b T C 18: 74,828,438 (GRCm39) probably benign Het
Myoc T A 1: 162,467,029 (GRCm39) I66N probably benign Het
Or10d1b T C 9: 39,613,937 (GRCm39) I43V probably damaging Het
Or4a70 A T 2: 89,324,171 (GRCm39) Y162N probably damaging Het
Or51k1 A C 7: 103,661,609 (GRCm39) L100W probably damaging Het
Or52n20 T C 7: 104,320,136 (GRCm39) C76R probably damaging Het
Or52n2b A G 7: 104,565,859 (GRCm39) C215R probably damaging Het
Or7a39 T C 10: 78,715,759 (GRCm39) L251S probably damaging Het
Per2 T C 1: 91,378,450 (GRCm39) D33G possibly damaging Het
Pknox1 A G 17: 31,821,793 (GRCm39) I295V possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhot2 A G 17: 26,063,270 (GRCm39) S19P probably damaging Het
Rps6kb1 C A 11: 86,426,236 (GRCm39) probably null Het
Serpinb1b C T 13: 33,275,648 (GRCm39) T194I probably benign Het
Smarcad1 T A 6: 65,029,790 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,428,759 (GRCm39) S449P probably benign Het
Thrb A C 14: 18,026,721 (GRCm38) I275L probably benign Het
Tjp1 T A 7: 64,979,431 (GRCm39) K365* probably null Het
Tjp1 T A 7: 64,979,430 (GRCm39) K365I possibly damaging Het
Tm4sf4 C A 3: 57,333,939 (GRCm39) C75* probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Txndc16 T C 14: 45,399,730 (GRCm39) T408A probably benign Het
Ube2j1 T C 4: 33,038,206 (GRCm39) L38P possibly damaging Het
Urb2 T C 8: 124,757,425 (GRCm39) I1044T probably benign 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
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
R6424:Cr1l UTSW 1 194,800,123 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16