Incidental Mutation 'IGL02726:Cr1l'
ID 305223
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 # IGL02726
Quality Score
Status
Chromosome 1
Chromosomal Location 194781019-194813878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 194812188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 45 (I45N)
Ref Sequence ENSEMBL: ENSMUSP00000142069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000193829] [ENSMUST00000194111]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075451
AA Change: I83N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: I83N

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 damaging
Transcript: ENSMUST00000191775
AA Change: I23N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: I23N

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 noncoding transcript
Transcript: ENSMUST00000192405
Predicted Effect probably damaging
Transcript: ENSMUST00000193094
AA Change: I83N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: I83N

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: ENSMUST00000193829
SMART Domains Protein: ENSMUSP00000141996
Gene: ENSMUSG00000016481

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000194111
AA Change: I45N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: I45N

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A T 2: 128,501,705 (GRCm39) M779K probably benign Het
Art1 G A 7: 101,759,955 (GRCm39) V85M probably damaging Het
Atad2b G T 12: 5,024,003 (GRCm39) E43* probably null Het
Clec4a4 A T 6: 122,967,338 (GRCm39) I5F probably damaging Het
Dmbt1 T A 7: 130,676,140 (GRCm39) probably benign Het
Dnajb3 A T 1: 88,133,372 (GRCm39) V10E probably damaging Het
Dnajc22 A T 15: 98,998,881 (GRCm39) H22L probably damaging Het
Dnal4 A G 15: 79,647,745 (GRCm39) V40A probably damaging Het
Dsg1b G A 18: 20,532,542 (GRCm39) V529I probably benign Het
Elp1 T A 4: 56,767,878 (GRCm39) probably null Het
Fam131c T A 4: 141,110,113 (GRCm39) D170E probably benign Het
Got1 G A 19: 43,488,851 (GRCm39) probably null Het
Herc1 T A 9: 66,349,270 (GRCm39) V2043E probably benign Het
Hmcn1 A T 1: 150,532,445 (GRCm39) Y3147* probably null Het
Ifi44 T C 3: 151,455,233 (GRCm39) probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Ino80 A T 2: 119,272,964 (GRCm39) I504N probably damaging Het
Itpr2 A G 6: 146,277,419 (GRCm39) I655T probably benign Het
Kcnk4 A G 19: 6,904,457 (GRCm39) probably null Het
Mrgprb2 T A 7: 48,202,618 (GRCm39) R36W probably damaging Het
Mslnl T C 17: 25,963,077 (GRCm39) probably null Het
Or10ak14 T A 4: 118,610,961 (GRCm39) Y260F probably benign Het
Or1e33 T C 11: 73,738,691 (GRCm39) S87G probably benign Het
Or2ag1b A C 7: 106,288,577 (GRCm39) Y120* probably null Het
Or8k16 G T 2: 85,520,554 (GRCm39) L260F possibly damaging Het
Pcnx4 G T 12: 72,620,986 (GRCm39) M935I probably benign Het
Pdgfra C T 5: 75,355,618 (GRCm39) Q1043* probably null Het
Pf4 T C 5: 90,920,523 (GRCm39) V28A probably benign Het
Piezo1 A G 8: 123,213,894 (GRCm39) L1689P probably damaging Het
Ppa2 A G 3: 133,076,222 (GRCm39) S284G possibly damaging Het
Pramel22 G T 4: 143,381,955 (GRCm39) P247H probably damaging Het
Psd2 T C 18: 36,120,355 (GRCm39) probably null Het
Rbm25 G T 12: 83,719,626 (GRCm39) G549W probably damaging Het
Ryr2 T C 13: 11,753,206 (GRCm39) D1705G probably damaging Het
Shf A T 2: 122,189,969 (GRCm39) D96E probably damaging Het
Slc1a1 G A 19: 28,889,169 (GRCm39) V481M probably benign Het
Slc4a9 T C 18: 36,672,670 (GRCm39) V807A probably benign Het
Syne2 T A 12: 76,062,356 (GRCm39) I4226N probably damaging Het
Tex56 A G 13: 35,136,943 (GRCm39) probably benign Het
Tkfc A T 19: 10,573,576 (GRCm39) V254E possibly damaging Het
Ubr2 A C 17: 47,283,847 (GRCm39) Y601D probably damaging Het
Ubr5 A C 15: 38,000,806 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,854 (GRCm39) I50K possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G 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
IGL02707:Cr1l APN 1 194,806,019 (GRCm39) missense probably benign 0.03
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