Incidental Mutation 'R1433:Cd74'
ID 159350
Institutional Source Beutler Lab
Gene Symbol Cd74
Ensembl Gene ENSMUSG00000024610
Gene Name CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)
Synonyms CLIP, Ii
MMRRC Submission 039488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 60936921-60945724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60937064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 20 (R20H)
Ref Sequence ENSEMBL: ENSMUSP00000126688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050487] [ENSMUST00000097563] [ENSMUST00000167610]
AlphaFold P04441
Predicted Effect probably benign
Transcript: ENSMUST00000050487
AA Change: R20H

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057836
Gene: ENSMUSG00000024610
AA Change: R20H

DomainStartEndE-ValueType
Pfam:MHC2-interact 1 112 2.8e-40 PFAM
Pfam:MHCassoc_trimer 119 190 6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097563
AA Change: R20H

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000095171
Gene: ENSMUSG00000024610
AA Change: R20H

DomainStartEndE-ValueType
Pfam:MHC2-interact 1 112 5.3e-40 PFAM
Pfam:MHCassoc_trimer 119 190 6.7e-36 PFAM
TY 212 258 8.6e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167610
AA Change: R20H

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126688
Gene: ENSMUSG00000024610
AA Change: R20H

DomainStartEndE-ValueType
Pfam:MHC2-interact 1 112 5.8e-45 PFAM
Pfam:MHCassoc_trimer 119 187 1.7e-34 PFAM
TY 212 258 8.6e-18 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R probably damaging Het
Other mutations in Cd74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Cd74 APN 18 60,944,398 (GRCm39) missense probably benign 0.02
IGL01475:Cd74 APN 18 60,943,393 (GRCm39) unclassified probably benign
IGL01867:Cd74 APN 18 60,941,352 (GRCm39) missense probably benign 0.03
IGL03207:Cd74 APN 18 60,944,996 (GRCm39) unclassified probably benign
R0010:Cd74 UTSW 18 60,936,968 (GRCm39) start gained probably benign
R0010:Cd74 UTSW 18 60,942,143 (GRCm39) missense probably benign 0.06
R0010:Cd74 UTSW 18 60,942,143 (GRCm39) missense probably benign 0.06
R0416:Cd74 UTSW 18 60,944,486 (GRCm39) missense possibly damaging 0.90
R0652:Cd74 UTSW 18 60,944,957 (GRCm39) missense probably damaging 1.00
R1490:Cd74 UTSW 18 60,944,438 (GRCm39) missense probably damaging 1.00
R1762:Cd74 UTSW 18 60,944,390 (GRCm39) missense probably benign 0.00
R1869:Cd74 UTSW 18 60,943,484 (GRCm39) missense probably benign 0.18
R4957:Cd74 UTSW 18 60,942,109 (GRCm39) missense probably benign 0.01
R5433:Cd74 UTSW 18 60,940,993 (GRCm39) missense probably benign 0.21
R5513:Cd74 UTSW 18 60,944,377 (GRCm39) missense probably damaging 1.00
R6073:Cd74 UTSW 18 60,944,558 (GRCm39) critical splice donor site probably null
R6381:Cd74 UTSW 18 60,944,435 (GRCm39) missense probably damaging 1.00
R7394:Cd74 UTSW 18 60,936,965 (GRCm39) start gained probably benign
R8944:Cd74 UTSW 18 60,943,127 (GRCm39) missense probably damaging 1.00
R9252:Cd74 UTSW 18 60,941,364 (GRCm39) missense possibly damaging 0.50
R9256:Cd74 UTSW 18 60,944,366 (GRCm39) missense probably benign 0.03
X0011:Cd74 UTSW 18 60,944,559 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTGTGGGCGAATCAGATTCCTTCC -3'
(R):5'- GAAGTCAGTACCCTTGGCAGGTTG -3'

Sequencing Primer
(F):5'- CGAATCAGATTCCTTCCAGTATCAG -3'
(R):5'- tgggaggaagaggcagg -3'
Posted On 2014-03-14