Incidental Mutation 'IGL02726:Cr1l'
ID305223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cr1l
Ensembl Gene ENSMUSG00000016481
Gene Namecomplement component (3b/4b) receptor 1-like
SynonymsmCRY, Crry
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02726
Quality Score
Status
Chromosome1
Chromosomal Location195097382-195131586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 195129880 bp
ZygosityHeterozygous
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]
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
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Cr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cr1l APN 1 195129881 missense possibly damaging 0.86
IGL01988:Cr1l APN 1 195117550 missense probably damaging 1.00
IGL02412:Cr1l APN 1 195114772 missense probably damaging 0.97
IGL02412:Cr1l APN 1 195114766 missense probably damaging 1.00
IGL02707:Cr1l APN 1 195123711 missense probably benign 0.03
R0105:Cr1l UTSW 1 195112412 splice site probably benign
R0153:Cr1l UTSW 1 195114856 splice site probably benign
R0302:Cr1l UTSW 1 195117793 missense probably damaging 0.99
R1444:Cr1l UTSW 1 195131202 missense probably damaging 0.99
R1760:Cr1l UTSW 1 195114815 missense probably benign 0.01
R2402:Cr1l UTSW 1 195106902 missense probably benign 0.04
R4583:Cr1l UTSW 1 195129831 missense probably damaging 0.97
R5977:Cr1l UTSW 1 195114768 nonsense probably null
R6113:Cr1l UTSW 1 195131411 unclassified probably benign
R6324:Cr1l UTSW 1 195111122 missense probably benign 0.07
R6424:Cr1l UTSW 1 195117815 missense probably damaging 1.00
R7082:Cr1l UTSW 1 195123698 missense probably benign 0.36
R7174:Cr1l UTSW 1 195129189 missense probably benign 0.00
R7199:Cr1l UTSW 1 195117570 missense probably benign 0.20
X0020:Cr1l UTSW 1 195129853 missense probably damaging 1.00
Posted On2015-04-16