Incidental Mutation 'R2092:Alb'
ID 231826
Institutional Source Beutler Lab
Gene Symbol Alb
Ensembl Gene ENSMUSG00000029368
Gene Name albumin
Synonyms Alb-1, Alb1
MMRRC Submission 040097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R2092 (G1)
Quality Score 217
Status Not validated
Chromosome 5
Chromosomal Location 90608756-90624461 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) G to GA at 90611842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031314]
AlphaFold P07724
Predicted Effect probably null
Transcript: ENSMUST00000031314
SMART Domains Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368

DomainStartEndE-ValueType
ALBUMIN 20 205 1.54e-84 SMART
ALBUMIN 212 397 3.43e-82 SMART
ALBUMIN 404 595 1.51e-83 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201737
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes albumin, an abundant plasma protein essential for maintaining oncotic pressure that functions as a carrier protein for various molecules such as steriods and fatty acids in blood. This gene is primarily expressed in liver where the encoded protein undergoes proteolytic processing before secretion into the plasma. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a TALEN-mediated deletion exhibit analbuminemia but appear healthy and grossly normal and breed normally. Mice heterozygotes for an ENU-induced point mutation have significantly reduced plasma albumin and calcium levels and significantly elevated alkaline phosphatase activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,651,896 (GRCm39) C1321* probably null Het
Abca8b A G 11: 109,857,534 (GRCm39) F673L possibly damaging Het
Adam19 T G 11: 45,951,731 (GRCm39) probably null Het
AI987944 T C 7: 41,024,041 (GRCm39) T313A possibly damaging Het
Akap13 A T 7: 75,260,318 (GRCm39) I178F probably benign Het
Bod1l A G 5: 41,988,860 (GRCm39) S416P probably damaging Het
Casr A T 16: 36,330,405 (GRCm39) Y310N possibly damaging Het
Cela3a T C 4: 137,131,737 (GRCm39) N152S probably benign Het
Chrdl2 T A 7: 99,670,184 (GRCm39) C102* probably null Het
Col4a4 G A 1: 82,476,667 (GRCm39) S554L unknown Het
Col6a4 T C 9: 105,937,530 (GRCm39) K1392R probably damaging Het
Dab1 T G 4: 104,535,974 (GRCm39) Y128D probably damaging Het
Dars1 A T 1: 128,301,755 (GRCm39) M293K probably damaging Het
Dlec1 T C 9: 118,950,912 (GRCm39) F493L possibly damaging Het
Dmbt1 G T 7: 130,651,748 (GRCm39) W330L probably damaging Het
Dnah11 A T 12: 117,976,451 (GRCm39) M831K possibly damaging Het
Dock7 T C 4: 98,897,545 (GRCm39) N715S possibly damaging Het
Edc4 T A 8: 106,614,160 (GRCm39) L12Q probably damaging Het
Edem2 T C 2: 155,550,969 (GRCm39) M333V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fto C A 8: 92,136,315 (GRCm39) Y194* probably null Het
Gnptab T G 10: 88,276,167 (GRCm39) Y1151* probably null Het
Grm1 A G 10: 10,564,969 (GRCm39) L1113P probably benign Het
Hnrnpa0 T C 13: 58,275,614 (GRCm39) K172E probably damaging Het
Ifitm1 A G 7: 140,549,427 (GRCm39) D70G probably damaging Het
Irx4 C A 13: 73,413,605 (GRCm39) T25K probably damaging Het
Kif22 C T 7: 126,632,802 (GRCm39) D195N probably damaging Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Lyz1 C T 10: 117,124,504 (GRCm39) R144Q probably benign Het
Macf1 T A 4: 123,276,971 (GRCm39) T6055S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myh9 G A 15: 77,648,550 (GRCm39) Q80* probably null Het
Myo6 G T 9: 80,152,964 (GRCm39) R199L probably damaging Het
Naglu G A 11: 100,967,546 (GRCm39) V499I possibly damaging Het
Nfkbie T C 17: 45,869,465 (GRCm39) F140S probably benign Het
Or4p8 A G 2: 88,727,611 (GRCm39) F110S probably damaging Het
Or52ab7 G A 7: 102,978,316 (GRCm39) V208M probably damaging Het
Or52z1 A T 7: 103,437,279 (GRCm39) F68L possibly damaging Het
Or5b102 T A 19: 13,041,166 (GRCm39) Y130* probably null Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,485 (GRCm39) L82Q probably damaging Het
Otop1 A T 5: 38,457,110 (GRCm39) I290F probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Pcdhb10 T A 18: 37,547,240 (GRCm39) I772N probably benign Het
Pnliprp1 A G 19: 58,729,616 (GRCm39) H423R probably benign Het
Ptk2 A T 15: 73,108,040 (GRCm39) Y56* probably null Het
Rapgef3 T C 15: 97,658,604 (GRCm39) D134G probably damaging Het
Scaf11 A C 15: 96,313,708 (GRCm39) S1358A probably damaging Het
Scn9a T C 2: 66,363,720 (GRCm39) M844V probably damaging Het
Sh3tc1 T C 5: 35,858,002 (GRCm39) E1121G probably damaging Het
Slc25a15 T C 8: 22,870,950 (GRCm39) T176A probably damaging Het
Slc29a4 T A 5: 142,704,610 (GRCm39) I384N probably damaging Het
Slc40a1 A T 1: 45,948,614 (GRCm39) D555E probably benign Het
Smc5 T C 19: 23,216,263 (GRCm39) I446V probably benign Het
St6gal2 T C 17: 55,817,267 (GRCm39) Y477H probably damaging Het
Syngr1 A T 15: 80,000,141 (GRCm39) Q84L possibly damaging Het
Tedc1 T C 12: 113,121,340 (GRCm39) L187P probably damaging Het
Tg A G 15: 66,721,456 (GRCm39) I322V probably null Het
Thap12 T C 7: 98,365,656 (GRCm39) V608A possibly damaging Het
Tmbim6 T C 15: 99,299,949 (GRCm39) S22P probably damaging Het
Ttc3 C T 16: 94,243,691 (GRCm39) P1232S probably benign Het
Upk3a A G 15: 84,902,286 (GRCm39) T38A probably damaging Het
Utrn A T 10: 12,554,442 (GRCm39) M1549K probably benign Het
Vmn1r176 C T 7: 23,534,578 (GRCm39) D192N probably damaging Het
Vmn1r198 A G 13: 22,538,885 (GRCm39) T35A possibly damaging Het
Xkr7 C T 2: 152,895,983 (GRCm39) S279L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp641 G T 15: 98,191,593 (GRCm39) T31N probably benign Het
Zfp74 G A 7: 29,653,349 (GRCm39) probably benign Het
Other mutations in Alb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Alb APN 5 90,619,932 (GRCm39) missense probably benign 0.00
IGL01508:Alb APN 5 90,618,697 (GRCm39) missense probably benign 0.19
IGL01722:Alb APN 5 90,618,698 (GRCm39) critical splice donor site probably null
IGL02103:Alb APN 5 90,611,990 (GRCm39) missense probably benign 0.00
IGL02379:Alb APN 5 90,613,738 (GRCm39) missense probably benign 0.00
IGL02531:Alb APN 5 90,615,307 (GRCm39) missense probably damaging 1.00
IGL02704:Alb APN 5 90,616,368 (GRCm39) missense possibly damaging 0.82
IGL02828:Alb APN 5 90,615,247 (GRCm39) missense probably benign 0.17
IGL03248:Alb APN 5 90,609,573 (GRCm39) splice site probably benign
Flavius UTSW 5 90,615,214 (GRCm39) missense probably damaging 1.00
R0714:Alb UTSW 5 90,610,665 (GRCm39) missense possibly damaging 0.81
R1418:Alb UTSW 5 90,612,061 (GRCm39) splice site probably benign
R1708:Alb UTSW 5 90,611,910 (GRCm39) missense possibly damaging 0.73
R4473:Alb UTSW 5 90,611,912 (GRCm39) missense probably damaging 1.00
R4670:Alb UTSW 5 90,610,665 (GRCm39) missense probably benign 0.00
R4758:Alb UTSW 5 90,616,452 (GRCm39) missense probably benign 0.00
R5583:Alb UTSW 5 90,616,452 (GRCm39) missense probably benign 0.00
R6384:Alb UTSW 5 90,620,499 (GRCm39) missense possibly damaging 0.67
R7268:Alb UTSW 5 90,610,575 (GRCm39) missense probably benign 0.15
R7295:Alb UTSW 5 90,610,693 (GRCm39) critical splice donor site probably null
R7320:Alb UTSW 5 90,612,846 (GRCm39) critical splice donor site probably null
R7337:Alb UTSW 5 90,622,452 (GRCm39) missense probably damaging 1.00
R7505:Alb UTSW 5 90,617,368 (GRCm39) missense probably damaging 1.00
R7575:Alb UTSW 5 90,613,788 (GRCm39) missense probably damaging 1.00
R7651:Alb UTSW 5 90,615,214 (GRCm39) missense probably damaging 1.00
R7652:Alb UTSW 5 90,615,214 (GRCm39) missense probably damaging 1.00
R7654:Alb UTSW 5 90,615,214 (GRCm39) missense probably damaging 1.00
R7669:Alb UTSW 5 90,611,850 (GRCm39) missense possibly damaging 0.93
R7870:Alb UTSW 5 90,620,488 (GRCm39) missense possibly damaging 0.96
R7879:Alb UTSW 5 90,620,507 (GRCm39) missense probably benign 0.21
R7950:Alb UTSW 5 90,620,323 (GRCm39) missense probably damaging 0.99
R7978:Alb UTSW 5 90,619,932 (GRCm39) missense possibly damaging 0.77
R8077:Alb UTSW 5 90,615,214 (GRCm39) missense probably damaging 1.00
R8078:Alb UTSW 5 90,615,214 (GRCm39) missense probably damaging 1.00
R8316:Alb UTSW 5 90,616,449 (GRCm39) missense probably benign 0.20
R8480:Alb UTSW 5 90,610,630 (GRCm39) missense probably damaging 0.99
R8531:Alb UTSW 5 90,611,873 (GRCm39) missense probably benign 0.00
R8714:Alb UTSW 5 90,608,874 (GRCm39) critical splice donor site probably null
R8986:Alb UTSW 5 90,615,225 (GRCm39) missense probably benign 0.00
R9368:Alb UTSW 5 90,623,143 (GRCm39) missense probably benign
R9469:Alb UTSW 5 90,610,659 (GRCm39) missense probably benign 0.26
R9498:Alb UTSW 5 90,617,362 (GRCm39) missense probably damaging 1.00
R9647:Alb UTSW 5 90,620,544 (GRCm39) critical splice donor site probably null
R9723:Alb UTSW 5 90,611,962 (GRCm39) missense probably damaging 1.00
Z1177:Alb UTSW 5 90,616,371 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATCTTCGTTTGCCTCGCAG -3'
(R):5'- CTTAAAGGAGGTGCACATGGCC -3'

Sequencing Primer
(F):5'- CGTTTGCCTCGCAGTTTAAAAACG -3'
(R):5'- AGGTGCACATGGCCTCAGC -3'
Posted On 2014-09-18