Incidental Mutation 'R9125:Muc3a'
ID 693178
Institutional Source Beutler Lab
Gene Symbol Muc3a
Ensembl Gene ENSMUSG00000094840
Gene Name mucin 3A, cell surface associated
Synonyms A630081J09Rik
MMRRC Submission 068925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9125 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137243270-137246852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137245210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 115 (L115P)
Ref Sequence ENSEMBL: ENSMUSP00000136061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179412]
AlphaFold Q3U5A2
Predicted Effect probably damaging
Transcript: ENSMUST00000179412
AA Change: L115P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136061
Gene: ENSMUSG00000094840
AA Change: L115P

DomainStartEndE-ValueType
Blast:EGF_like 54 95 1e-22 BLAST
transmembrane domain 103 125 N/A INTRINSIC
low complexity region 198 218 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196391
AA Change: L113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (64/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Adam3 A G 8: 25,213,517 (GRCm39) L61P probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Antxr2 G A 5: 98,151,973 (GRCm39) S166F probably damaging Het
Asph C T 4: 9,474,928 (GRCm39) G682D possibly damaging Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Cabp2 G A 19: 4,135,597 (GRCm39) D96N probably damaging Het
Cc2d2a T A 5: 43,860,563 (GRCm39) D546E probably benign Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Chrna7 G A 7: 62,757,357 (GRCm39) Q181* probably null Het
Cib1 T C 7: 79,877,751 (GRCm39) D182G probably damaging Het
Cib4 T C 5: 30,655,477 (GRCm39) H76R probably benign Het
Cop1 T G 1: 159,067,187 (GRCm39) F157V probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Derl3 G A 10: 75,730,443 (GRCm39) V169I probably benign Het
Dusp6 T A 10: 99,102,074 (GRCm39) C353* probably null Het
Efcab3 A T 11: 104,736,360 (GRCm39) D2110V probably damaging Het
Fry A G 5: 150,269,525 (GRCm39) N217S probably damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Grik1 T A 16: 87,852,956 (GRCm39) T76S Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kmt2c T C 5: 25,489,194 (GRCm39) T4582A possibly damaging Het
Mroh9 T C 1: 162,875,412 (GRCm39) I496V probably benign Het
Nfe2 A G 15: 103,157,871 (GRCm39) L40P probably damaging Het
Nipsnap3b A T 4: 53,021,177 (GRCm39) D216V probably damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Pira12 T A 7: 3,900,021 (GRCm39) I194L possibly damaging Het
Ppp1r37 T C 7: 19,269,014 (GRCm39) D162G probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Pramel17 A G 4: 101,694,073 (GRCm39) V270A probably benign Het
Prorp A T 12: 55,355,611 (GRCm39) D372V possibly damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rgs16 A G 1: 153,617,874 (GRCm39) E128G probably null Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rnf2 T C 1: 151,347,433 (GRCm39) K289E probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr2 A G 13: 11,669,292 (GRCm39) V3504A probably benign Het
Selp T A 1: 163,951,356 (GRCm39) I30N probably benign Het
Serpinb5 C T 1: 106,798,137 (GRCm39) A42V probably benign Het
Sfpq G A 4: 126,915,633 (GRCm39) G142S unknown Het
Sh2d1b2 T C 1: 170,075,751 (GRCm39) Y62H possibly damaging Het
Sipa1l3 C T 7: 29,086,656 (GRCm39) E645K probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Speer4a3 T C 5: 26,156,596 (GRCm39) M128V possibly damaging Het
Sptbn2 A T 19: 4,784,241 (GRCm39) Q661L probably benign Het
Tarbp1 G T 8: 127,174,202 (GRCm39) T868K possibly damaging Het
Tnfrsf8 A G 4: 145,023,531 (GRCm39) S101P probably damaging Het
Tnfsf10 A C 3: 27,380,028 (GRCm39) probably benign Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Unc80 T A 1: 66,718,740 (GRCm39) S2988T probably benign Het
Vmn1r195 A G 13: 22,463,335 (GRCm39) I268M possibly damaging Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vmn2r80 T A 10: 78,984,760 (GRCm39) D37E probably benign Het
Vmn2r9 A T 5: 108,996,047 (GRCm39) H200Q Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Wscd2 C A 5: 113,715,417 (GRCm39) A419E probably benign Het
Other mutations in Muc3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1500:Muc3a UTSW 5 137,244,958 (GRCm39) splice site probably benign
R1536:Muc3a UTSW 5 137,244,538 (GRCm39) missense unknown
R5076:Muc3a UTSW 5 137,244,997 (GRCm39) missense probably damaging 0.99
R5356:Muc3a UTSW 5 137,245,021 (GRCm39) missense probably benign 0.33
R6134:Muc3a UTSW 5 137,244,579 (GRCm39) missense probably damaging 0.99
R6491:Muc3a UTSW 5 137,246,591 (GRCm39) missense probably benign 0.00
R7524:Muc3a UTSW 5 137,245,020 (GRCm39) missense probably benign 0.08
R8181:Muc3a UTSW 5 137,244,535 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAACCATTTCCTGTCCTGGG -3'
(R):5'- GACCAAACTCTCCAAGGTCCTG -3'

Sequencing Primer
(F):5'- ATTTCCTGTCCTGGGTCCAG -3'
(R):5'- CTGGCCACTTGCTCTAGGATG -3'
Posted On 2022-01-20