Incidental Mutation 'R2163:Muc2'
ID 235286
Institutional Source Beutler Lab
Gene Symbol Muc2
Ensembl Gene ENSMUSG00000025515
Gene Name mucin 2
Synonyms 2010015E03Rik
MMRRC Submission 040166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R2163 (G1)
Quality Score 129
Status Not validated
Chromosome 7
Chromosomal Location 141276583-141308428 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CGTG to CGTGTG at 141699185 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167366] [ENSMUST00000179227] [ENSMUST00000185406] [ENSMUST00000185823]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000167366
SMART Domains Protein: ENSMUSP00000128250
Gene: ENSMUSG00000025515

DomainStartEndE-ValueType
Pfam:VWD 3 72 2.3e-14 PFAM
C8 107 181 1.82e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179227
SMART Domains Protein: ENSMUSP00000136692
Gene: ENSMUSG00000025515

DomainStartEndE-ValueType
C8 11 85 1.61e-32 SMART
Blast:VWD 102 128 5e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000185406
SMART Domains Protein: ENSMUSP00000141040
Gene: ENSMUSG00000025515

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
VWD 20 183 1.5e-40 SMART
C8 216 290 3.9e-15 SMART
Pfam:TIL 293 349 5.4e-10 PFAM
VWC 351 411 7e-4 SMART
VWD 378 542 8.8e-44 SMART
C8 579 653 1.2e-36 SMART
SCOP:d1coua_ 654 728 4e-8 SMART
VWC_def 820 865 1.3e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185823
SMART Domains Protein: ENSMUSP00000140855
Gene: ENSMUSG00000025515

DomainStartEndE-ValueType
Pfam:VWD 3 73 5.6e-14 PFAM
C8 108 182 1.4e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187789
Predicted Effect probably benign
Transcript: ENSMUST00000191587
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (76/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik C A 14: 67,175,997 (GRCm39) T64K unknown Het
Ablim2 T C 5: 35,959,697 (GRCm39) probably benign Het
Acp4 T C 7: 43,905,400 (GRCm39) D107G probably damaging Het
Adamts2 T A 11: 50,679,632 (GRCm39) C871S probably benign Het
Adamts3 A G 5: 89,856,577 (GRCm39) V332A probably damaging Het
Alkal1 C T 1: 6,459,736 (GRCm39) T104M probably benign Het
Astn1 A G 1: 158,329,720 (GRCm39) S192G probably damaging Het
Axdnd1 A C 1: 156,219,573 (GRCm39) V337G probably damaging Het
Baiap2l2 T C 15: 79,143,395 (GRCm39) D481G possibly damaging Het
Cacna2d1 C T 5: 16,567,317 (GRCm39) T964I probably damaging Het
Carf T C 1: 60,186,645 (GRCm39) probably benign Het
Catsper2 T C 2: 121,230,656 (GRCm39) D295G probably damaging Het
Cdh1 A G 8: 107,375,713 (GRCm39) T84A probably benign Het
Chd8 T A 14: 52,436,275 (GRCm39) H2508L possibly damaging Het
Chl1 A T 6: 103,688,192 (GRCm39) T284S probably damaging Het
Chtop A T 3: 90,409,518 (GRCm39) M125K probably benign Het
Col14a1 T A 15: 55,308,041 (GRCm39) probably benign Het
Cplane1 T A 15: 8,232,735 (GRCm39) probably null Het
Cyp2b10 A T 7: 25,624,810 (GRCm39) probably benign Het
Cyp2c70 G A 19: 40,149,163 (GRCm39) H328Y possibly damaging Het
Dcbld1 A G 10: 52,162,452 (GRCm39) T77A probably damaging Het
Dnah6 A T 6: 73,066,729 (GRCm39) probably null Het
Efhd1 A T 1: 87,217,195 (GRCm39) D104V probably damaging Het
Eif5b A T 1: 38,087,875 (GRCm39) D957V probably benign Het
Eps15 T A 4: 109,227,866 (GRCm39) S549R probably damaging Het
Fbxo3 C A 2: 103,885,330 (GRCm39) H400N probably benign Het
Fcer1a A G 1: 173,050,264 (GRCm39) V86A probably damaging Het
Fh1 A G 1: 175,442,406 (GRCm39) M148T possibly damaging Het
Foxc1 C A 13: 31,992,586 (GRCm39) H466N unknown Het
Gadl1 T A 9: 115,778,626 (GRCm39) I180N possibly damaging Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm21718 T C 14: 51,555,223 (GRCm39) noncoding transcript Het
Hivep2 T A 10: 14,003,970 (GRCm39) Y189* probably null Het
Hoxd13 T A 2: 74,499,413 (GRCm39) S254T possibly damaging Het
Hspd1 A G 1: 55,117,697 (GRCm39) probably benign Het
Il1r1 A G 1: 40,334,023 (GRCm39) M198V probably benign Het
Katnal1 T A 5: 148,825,746 (GRCm39) I362F probably damaging Het
Mybpc1 T C 10: 88,376,804 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,407,291 (GRCm39) probably null Het
Nell2 G T 15: 95,327,859 (GRCm39) N301K probably damaging Het
Nenf T A 1: 191,042,132 (GRCm39) D108V probably damaging Het
Nfkbiz T C 16: 55,638,581 (GRCm39) N293S probably benign Het
Nipbl T C 15: 8,366,403 (GRCm39) K1229E probably damaging Het
Nlrp4a T C 7: 26,152,822 (GRCm39) F631L probably benign Het
Nrp1 T A 8: 129,224,352 (GRCm39) V705E probably damaging Het
Nsf G C 11: 103,754,159 (GRCm39) A459G possibly damaging Het
Or1af1 A G 2: 37,110,089 (GRCm39) E196G probably damaging Het
Or5w10 A G 2: 87,375,238 (GRCm39) S217P probably damaging Het
Pdia4 C T 6: 47,775,341 (GRCm39) D490N possibly damaging Het
Pinlyp T A 7: 24,241,226 (GRCm39) Y192F probably benign Het
Pkd2 T C 5: 104,603,543 (GRCm39) probably benign Het
Ppara A G 15: 85,685,247 (GRCm39) K399E probably benign Het
Ppp4r2 C A 6: 100,842,047 (GRCm39) N169K probably damaging Het
Prom1 T A 5: 44,171,505 (GRCm39) E632V possibly damaging Het
Rpap3 T A 15: 97,578,229 (GRCm39) Y562F possibly damaging Het
Rsph14 T A 10: 74,793,611 (GRCm39) K263N probably damaging Het
Sanbr T C 11: 23,526,826 (GRCm39) probably benign Het
Scn11a T G 9: 119,584,091 (GRCm39) D1508A probably damaging Het
Scn7a T C 2: 66,506,300 (GRCm39) T1530A probably damaging Het
Sec14l1 T A 11: 117,034,108 (GRCm39) probably null Het
Slc4a4 A G 5: 89,362,435 (GRCm39) I840V probably damaging Het
Slco1a8 G A 6: 141,926,664 (GRCm39) T554I possibly damaging Het
Slco1c1 T A 6: 141,505,478 (GRCm39) V419D probably benign Het
Sltm T A 9: 70,498,964 (GRCm39) F1013I probably damaging Het
Spam1 A G 6: 24,796,846 (GRCm39) K266E probably benign Het
Syt15 A G 14: 33,948,073 (GRCm39) E306G probably benign Het
Tap1 A T 17: 34,408,447 (GRCm39) probably null Het
Tbc1d16 G C 11: 119,045,904 (GRCm39) probably benign Het
Tex47 T C 5: 7,355,022 (GRCm39) Y68H probably damaging Het
Ttn T C 2: 76,642,845 (GRCm39) T13264A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubxn2a A T 12: 4,935,757 (GRCm39) F131Y probably damaging Het
Usp40 T C 1: 87,923,580 (GRCm39) probably benign Het
Vmn1r170 T C 7: 23,306,462 (GRCm39) L288P probably damaging Het
Vmn1r175 A G 7: 23,508,352 (GRCm39) Y92H probably benign Het
Wdpcp G T 11: 21,835,015 (GRCm39) E673* probably null Het
Zfr T A 15: 12,162,309 (GRCm39) L820I 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
R0699:Muc2 UTSW 7 141,306,037 (GRCm39) missense probably damaging 1.00
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
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'- CCCCATGTGTATGTGCATGTG -3'
(R):5'- CAGCTTGGGAAGATCCTGAG -3'

Sequencing Primer
(F):5'- gcatgtgtgtgtgtgtgt -3'
(R):5'- ATCCACGGGACCTGTGTAG -3'
Posted On 2014-10-01