Incidental Mutation 'R0699:Muc2'
ID 62960
Institutional Source Beutler Lab
Gene Symbol Muc2
Ensembl Gene ENSMUSG00000025515
Gene Name mucin 2
Synonyms 2010015E03Rik
MMRRC Submission 038883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R0699 (G1)
Quality Score 87
Status Validated
Chromosome 7
Chromosomal Location 141276583-141308428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141306037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000026590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026590]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026590
AA Change: V242A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026590
Gene: ENSMUSG00000025515
AA Change: V242A

DomainStartEndE-ValueType
C8 1 63 1.65e-11 SMART
VWC 120 188 5.48e-2 SMART
VWC 229 293 2.38e-11 SMART
Blast:VWD 299 363 4e-17 BLAST
CT 380 463 3.6e-35 SMART
Predicted Effect unknown
Transcript: ENSMUST00000187945
AA Change: V681A
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (120/123)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a point mutation have soft feces at weaning and develop diarrhea associated with malapsorption syndrome. Homozygous null mutants pass blood in their feces at 6 months, and 65% of null mutants have intestinal tumors at 1 year. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(3) Chemically induced(4)

Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,538,508 (GRCm39) probably benign Het
Abcb6 C T 1: 75,148,553 (GRCm39) E89K probably damaging Het
Adam25 C A 8: 41,209,011 (GRCm39) T759K probably benign Het
Adgrf5 G A 17: 43,733,552 (GRCm39) probably null Het
Aimp1 A T 3: 132,380,626 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,153,148 (GRCm39) V193I probably benign Het
Ank2 C T 3: 126,723,478 (GRCm39) V950I probably benign Het
Aspn A G 13: 49,705,258 (GRCm39) D40G possibly damaging Het
C1rl A G 6: 124,485,595 (GRCm39) D322G probably benign Het
Car5a T C 8: 122,671,555 (GRCm39) probably benign Het
Cfap107 G T 4: 144,146,322 (GRCm39) N110K probably damaging Het
Cfap157 T A 2: 32,669,022 (GRCm39) K360N probably damaging Het
Cilp T A 9: 65,177,608 (GRCm39) F117Y probably damaging Het
Cntnap5c T G 17: 58,349,493 (GRCm39) W269G probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Commd3 A G 2: 18,679,786 (GRCm39) E165G possibly damaging Het
Cops3 A C 11: 59,717,148 (GRCm39) Y244D probably damaging Het
Cpne5 T A 17: 29,428,667 (GRCm39) K108N probably damaging Het
Cracdl T C 1: 37,651,411 (GRCm39) D1152G possibly damaging Het
Ddx41 A G 13: 55,679,112 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,301,113 (GRCm39) Y157H probably damaging Het
Dpp8 A T 9: 64,962,176 (GRCm39) L405F probably benign Het
Dync2h1 G T 9: 7,103,680 (GRCm39) A365E probably benign Het
Dysf C T 6: 84,167,828 (GRCm39) R1757W probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Eif2ak3 T C 6: 70,869,514 (GRCm39) F734L probably benign Het
F8 T C X: 74,423,230 (GRCm39) probably benign Het
Fbxl14 T C 6: 119,457,715 (GRCm39) Y299H probably benign Het
Fmo1 T C 1: 162,661,341 (GRCm39) N314S probably benign Het
Fnip2 T C 3: 79,388,446 (GRCm39) T762A probably benign Het
Gfra1 A C 19: 58,258,555 (GRCm39) S271A probably benign Het
Gm9932 T C 5: 100,346,931 (GRCm39) V43A probably damaging Het
Herc6 T C 6: 57,558,092 (GRCm39) L24P probably damaging Het
Hmcn1 T C 1: 150,695,161 (GRCm39) T248A probably damaging Het
Hook1 T A 4: 95,884,077 (GRCm39) probably benign Het
Ifne T C 4: 88,798,014 (GRCm39) S135G probably benign Het
Igkv13-84 G A 6: 68,916,635 (GRCm39) probably benign Het
Itm2b T A 14: 73,602,065 (GRCm39) N211I probably damaging Het
Kcnh5 A T 12: 75,023,305 (GRCm39) C588S possibly damaging Het
Kif13a A T 13: 46,952,689 (GRCm39) W699R possibly damaging Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Macrod2 T C 2: 140,260,836 (GRCm39) probably null Het
Map3k6 A G 4: 132,975,437 (GRCm39) E724G probably damaging Het
Mgam T C 6: 40,619,953 (GRCm39) L14P possibly damaging Het
Morc1 T A 16: 48,412,977 (GRCm39) M706K probably benign Het
Mx2 T A 16: 97,345,753 (GRCm39) V57E probably damaging Het
Myh14 C A 7: 44,274,395 (GRCm39) A1339S possibly damaging Het
Myom1 G T 17: 71,374,308 (GRCm39) S595I probably damaging Het
Nav1 T A 1: 135,380,687 (GRCm39) M1471L probably benign Het
Ncapd2 A C 6: 125,146,843 (GRCm39) S1248A probably benign Het
Ncbp1 T C 4: 46,147,528 (GRCm39) V125A probably benign Het
Ncor2 A T 5: 125,106,176 (GRCm39) probably benign Het
Nobox T A 6: 43,284,144 (GRCm39) Q134L probably benign Het
Npc1 T C 18: 12,343,632 (GRCm39) T454A probably benign Het
Ntng1 G T 3: 109,779,611 (GRCm39) T322K probably damaging Het
Olfm5 T C 7: 103,803,326 (GRCm39) E379G probably damaging Het
Oma1 T C 4: 103,210,792 (GRCm39) S433P probably damaging Het
Or1ad6 T C 11: 50,860,645 (GRCm39) S267P probably damaging Het
Or1b1 T C 2: 36,995,074 (GRCm39) D196G possibly damaging Het
Or4c105 A T 2: 88,647,568 (GRCm39) N18Y probably damaging Het
Or4c107 C T 2: 88,788,960 (GRCm39) T50I probably benign Het
Or4c113 C T 2: 88,885,636 (GRCm39) V45M possibly damaging Het
Parp14 G A 16: 35,680,955 (GRCm39) T226M probably damaging Het
Parp8 A T 13: 117,059,120 (GRCm39) H168Q probably benign Het
Pik3cg G A 12: 32,247,341 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,442,000 (GRCm39) F388S probably damaging Het
Plaat3 T A 19: 7,535,366 (GRCm39) probably null Het
Pllp T C 8: 95,422,660 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,927,720 (GRCm39) V778E probably damaging Het
Prkci T C 3: 31,104,422 (GRCm39) V595A possibly damaging Het
Prune2 T A 19: 17,101,319 (GRCm39) D2274E probably damaging Het
Rad51ap2 A T 12: 11,507,601 (GRCm39) T508S probably benign Het
Ranbp3l T C 15: 9,058,850 (GRCm39) probably null Het
Rfc1 A C 5: 65,476,742 (GRCm39) probably null Het
Rin3 G A 12: 102,335,834 (GRCm39) V502I probably damaging Het
Rtn4rl1 A T 11: 75,156,048 (GRCm39) H160L possibly damaging Het
Rtn4rl1 A T 11: 75,156,050 (GRCm39) I161F probably benign Het
Serpinb9b A T 13: 33,217,549 (GRCm39) M116L probably benign Het
Sgo2a C T 1: 58,037,308 (GRCm39) R18* probably null Het
Sh3gl2 T A 4: 85,265,408 (GRCm39) D31E probably benign Het
Slc38a9 T C 13: 112,859,823 (GRCm39) L419S probably damaging Het
Sp8 AGCGGCGGCGGCGGCGG AGCGGCGGCGGCGG 12: 118,812,555 (GRCm39) probably benign Het
Spen G T 4: 141,201,702 (GRCm39) N2308K possibly damaging Het
Stac2 A G 11: 97,933,611 (GRCm39) I156T possibly damaging Het
Stambp A G 6: 83,533,303 (GRCm39) F320S probably damaging Het
Tas2r117 A T 6: 132,780,161 (GRCm39) N100Y probably damaging Het
Tigd3 A T 19: 5,941,974 (GRCm39) S385R probably benign Het
Tmem30c T C 16: 57,097,152 (GRCm39) D136G possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnrc6c A G 11: 117,613,447 (GRCm39) Q535R probably benign Het
Trmt2a T C 16: 18,067,393 (GRCm39) V22A probably benign Het
Tut7 G A 13: 59,929,828 (GRCm39) probably benign Het
Wipf3 A C 6: 54,460,817 (GRCm39) K88N probably damaging Het
Zfp974 T C 7: 27,611,416 (GRCm39) E103G possibly damaging Het
Zscan10 C T 17: 23,827,092 (GRCm39) T135I probably damaging Het
Other mutations in Muc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Eeyore APN 7 141,693,356 (GRCm38) missense probably benign 0.35
kenny APN 7 0 () nonsense
Winnie APN 7 141,286,029 (GRCm39) missense probably damaging 1.00
IGL01303:Muc2 APN 7 141,306,132 (GRCm39) missense probably benign
IGL01482:Muc2 APN 7 141,307,797 (GRCm39) missense probably damaging 0.96
IGL01875:Muc2 APN 7 141,306,477 (GRCm39) missense probably damaging 0.99
IGL02088:Muc2 APN 7 141,305,241 (GRCm39) missense probably damaging 1.00
IGL02415:Muc2 APN 7 141,305,609 (GRCm39) nonsense probably null
IGL02548:Muc2 APN 7 141,305,594 (GRCm39) missense probably damaging 1.00
IGL02836:Muc2 APN 7 141,300,450 (GRCm39) unclassified probably benign
IGL03196:Muc2 APN 7 141,301,367 (GRCm39) missense probably damaging 0.97
Muskatenwein UTSW 7 141,307,176 (GRCm39) missense unknown
nomoco UTSW 7 141,307,456 (GRCm39) missense probably damaging 1.00
Schlendrian UTSW 7 141,281,925 (GRCm39) missense probably damaging 1.00
Seco UTSW 7 141,284,976 (GRCm39) missense probably damaging 1.00
BB001:Muc2 UTSW 7 141,281,631 (GRCm39) missense probably damaging 1.00
BB011:Muc2 UTSW 7 141,281,631 (GRCm39) missense probably damaging 1.00
E0370:Muc2 UTSW 7 141,282,598 (GRCm39) missense probably damaging 1.00
R0127:Muc2 UTSW 7 141,302,691 (GRCm39) missense probably benign 0.00
R0179:Muc2 UTSW 7 141,302,708 (GRCm39) missense probably damaging 1.00
R0201:Muc2 UTSW 7 141,699,185 (GRCm38) frame shift probably null
R0299:Muc2 UTSW 7 141,306,466 (GRCm39) missense probably damaging 1.00
R0547:Muc2 UTSW 7 141,699,185 (GRCm38) frame shift probably null
R0900:Muc2 UTSW 7 141,699,185 (GRCm38) frame shift probably null
R1348:Muc2 UTSW 7 141,699,185 (GRCm38) frame shift probably null
R1466:Muc2 UTSW 7 141,302,711 (GRCm39) missense probably damaging 1.00
R1466:Muc2 UTSW 7 141,302,711 (GRCm39) missense probably damaging 1.00
R1625:Muc2 UTSW 7 141,283,405 (GRCm39) missense probably damaging 1.00
R2010:Muc2 UTSW 7 141,287,444 (GRCm39) missense probably damaging 0.99
R2149:Muc2 UTSW 7 141,699,185 (GRCm38) frame shift probably null
R2163:Muc2 UTSW 7 141,699,185 (GRCm38) frame shift probably null
R3008:Muc2 UTSW 7 141,281,347 (GRCm39) missense possibly damaging 0.93
R3110:Muc2 UTSW 7 141,299,225 (GRCm39) unclassified probably benign
R3112:Muc2 UTSW 7 141,299,225 (GRCm39) unclassified probably benign
R3424:Muc2 UTSW 7 141,279,595 (GRCm39) missense probably damaging 0.99
R3786:Muc2 UTSW 7 141,283,590 (GRCm39) missense probably benign 0.01
R3854:Muc2 UTSW 7 141,308,081 (GRCm39) missense probably damaging 1.00
R3964:Muc2 UTSW 7 141,286,233 (GRCm39) missense probably benign 0.17
R3965:Muc2 UTSW 7 141,286,233 (GRCm39) missense probably benign 0.17
R3966:Muc2 UTSW 7 141,286,233 (GRCm39) missense probably benign 0.17
R3973:Muc2 UTSW 7 141,300,541 (GRCm39) unclassified probably benign
R3974:Muc2 UTSW 7 141,300,541 (GRCm39) unclassified probably benign
R3976:Muc2 UTSW 7 141,300,541 (GRCm39) unclassified probably benign
R4327:Muc2 UTSW 7 141,281,577 (GRCm39) missense probably damaging 0.96
R4694:Muc2 UTSW 7 141,306,082 (GRCm39) missense probably damaging 1.00
R4764:Muc2 UTSW 7 141,299,345 (GRCm39) missense possibly damaging 0.88
R4769:Muc2 UTSW 7 141,286,260 (GRCm39) critical splice donor site probably null
R4798:Muc2 UTSW 7 141,307,877 (GRCm39) missense probably benign 0.01
R4900:Muc2 UTSW 7 141,303,280 (GRCm39) missense probably benign 0.32
R5383:Muc2 UTSW 7 141,307,456 (GRCm39) missense probably damaging 1.00
R5489:Muc2 UTSW 7 141,305,169 (GRCm39) missense probably benign 0.00
R5615:Muc2 UTSW 7 141,277,446 (GRCm39) missense probably damaging 1.00
R5856:Muc2 UTSW 7 141,299,381 (GRCm39) unclassified probably benign
R5919:Muc2 UTSW 7 141,281,171 (GRCm39) missense probably damaging 0.97
R5953:Muc2 UTSW 7 141,287,951 (GRCm39) missense probably damaging 0.96
R5979:Muc2 UTSW 7 141,305,143 (GRCm39) missense probably damaging 0.99
R5979:Muc2 UTSW 7 141,283,493 (GRCm39) splice site probably null
R6175:Muc2 UTSW 7 141,282,875 (GRCm39) missense probably damaging 1.00
R6213:Muc2 UTSW 7 141,305,151 (GRCm39) missense probably damaging 1.00
R6281:Muc2 UTSW 7 141,306,140 (GRCm39) missense probably damaging 1.00
R6321:Muc2 UTSW 7 141,287,397 (GRCm39) missense probably benign 0.28
R6390:Muc2 UTSW 7 141,305,883 (GRCm39) missense probably damaging 0.97
R6485:Muc2 UTSW 7 141,300,473 (GRCm39) unclassified probably benign
R6582:Muc2 UTSW 7 141,282,941 (GRCm39) missense probably benign 0.00
R6683:Muc2 UTSW 7 141,305,214 (GRCm39) missense probably benign 0.38
R6896:Muc2 UTSW 7 141,306,432 (GRCm39) missense possibly damaging 0.48
R6906:Muc2 UTSW 7 141,284,976 (GRCm39) missense probably damaging 1.00
R6924:Muc2 UTSW 7 141,284,077 (GRCm39) missense possibly damaging 0.87
R7040:Muc2 UTSW 7 141,305,194 (GRCm39) missense unknown
R7222:Muc2 UTSW 7 141,290,758 (GRCm39) missense
R7251:Muc2 UTSW 7 141,278,965 (GRCm39) missense possibly damaging 0.91
R7282:Muc2 UTSW 7 141,306,481 (GRCm39) missense
R7315:Muc2 UTSW 7 141,276,645 (GRCm39) missense probably damaging 0.99
R7421:Muc2 UTSW 7 141,301,863 (GRCm39) missense
R7556:Muc2 UTSW 7 141,307,439 (GRCm39) missense
R7651:Muc2 UTSW 7 141,290,750 (GRCm39) missense
R7710:Muc2 UTSW 7 141,287,452 (GRCm39) missense possibly damaging 0.92
R7776:Muc2 UTSW 7 141,290,942 (GRCm39) missense
R7813:Muc2 UTSW 7 141,282,543 (GRCm39) splice site probably null
R7843:Muc2 UTSW 7 141,281,662 (GRCm39) missense probably benign 0.03
R7869:Muc2 UTSW 7 141,303,471 (GRCm39) missense
R7924:Muc2 UTSW 7 141,281,631 (GRCm39) missense probably damaging 1.00
R7993:Muc2 UTSW 7 141,308,173 (GRCm39) missense
R8053:Muc2 UTSW 7 141,284,575 (GRCm39) missense probably benign 0.01
R8068:Muc2 UTSW 7 141,298,422 (GRCm39) missense
R8099:Muc2 UTSW 7 141,299,175 (GRCm39) splice site probably null
R8192:Muc2 UTSW 7 141,305,215 (GRCm39) missense
R8194:Muc2 UTSW 7 141,290,801 (GRCm39) missense
R8545:Muc2 UTSW 7 141,306,130 (GRCm39) missense unknown
R8701:Muc2 UTSW 7 141,281,850 (GRCm39) missense probably damaging 1.00
R8883:Muc2 UTSW 7 141,287,469 (GRCm39) missense probably damaging 0.98
R8894:Muc2 UTSW 7 141,280,758 (GRCm39) missense probably damaging 1.00
R8905:Muc2 UTSW 7 141,279,643 (GRCm39) missense probably benign 0.00
R9024:Muc2 UTSW 7 141,287,936 (GRCm39) missense probably damaging 0.98
R9032:Muc2 UTSW 7 141,287,058 (GRCm39) missense probably damaging 1.00
R9085:Muc2 UTSW 7 141,287,058 (GRCm39) missense probably damaging 1.00
R9091:Muc2 UTSW 7 141,290,816 (GRCm39) missense
R9104:Muc2 UTSW 7 141,286,224 (GRCm39) missense probably damaging 1.00
R9114:Muc2 UTSW 7 141,287,983 (GRCm39) nonsense probably null
R9270:Muc2 UTSW 7 141,290,816 (GRCm39) missense
R9297:Muc2 UTSW 7 141,302,759 (GRCm39) missense
R9325:Muc2 UTSW 7 141,298,559 (GRCm39) missense
R9354:Muc2 UTSW 7 141,307,157 (GRCm39) missense
R9386:Muc2 UTSW 7 141,279,389 (GRCm39) missense probably damaging 1.00
R9529:Muc2 UTSW 7 141,287,453 (GRCm39) missense possibly damaging 0.55
R9550:Muc2 UTSW 7 141,308,242 (GRCm39) missense probably damaging 1.00
R9583:Muc2 UTSW 7 141,300,559 (GRCm39) missense
R9607:Muc2 UTSW 7 141,305,190 (GRCm39) missense
R9646:Muc2 UTSW 7 141,276,643 (GRCm39) missense probably benign
R9651:Muc2 UTSW 7 141,288,014 (GRCm39) missense probably damaging 0.99
R9774:Muc2 UTSW 7 141,285,811 (GRCm39) missense probably benign
R9784:Muc2 UTSW 7 141,280,785 (GRCm39) nonsense probably null
Z1176:Muc2 UTSW 7 141,300,451 (GRCm39) missense
Z1177:Muc2 UTSW 7 141,298,531 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GATAACCTCTGATGGCTTTCCCCAC -3'
(R):5'- TGGAATCGGTAGAATGCCTCACCC -3'

Sequencing Primer
(F):5'- TTCTTCCAAGTGCCCAAGG -3'
(R):5'- GCTGTGTATGAACAAGTGCC -3'
Posted On 2013-07-30