Mutagenetix > Incidental Mutation

Incidental Mutation 'R4764:Muc2'

357101

Institutional Source

Beutler Lab

Gene Symbol

Muc2

Ensembl Gene

ENSMUSG00000025515

Gene Name

mucin 2

Synonyms

2010015E03Rik

MMRRC Submission

042405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141276583-141308428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141299345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 130 (T130M)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026590]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026590

SMART Domains

Protein: ENSMUSP00000026590
Gene: ENSMUSG00000025515

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000187945
AA Change: T130M

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,122,029 (GRCm39)	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,056,396 (GRCm39)	V176G	probably benign	Het
Abcb1a	T	A	5: 8,765,732 (GRCm39)		probably null	Het
Acad11	C	A	9: 103,953,076 (GRCm39)	P102T	probably damaging	Het
Aggf1	T	A	13: 95,501,221 (GRCm39)	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,248,496 (GRCm39)	V234I	probably benign	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,074,837 (GRCm39)	A41E	probably benign	Het
Axin1	C	A	17: 26,392,730 (GRCm39)	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,192,775 (GRCm39)	L1353P	probably damaging	Het
Bptf	A	T	11: 106,934,520 (GRCm39)	V2851E	probably damaging	Het
C9	A	T	15: 6,489,124 (GRCm39)	E160D	probably damaging	Het
Cbx6	T	C	15: 79,712,881 (GRCm39)	D182G	probably damaging	Het
Cep57l1	T	C	10: 41,597,678 (GRCm39)	R242G	possibly damaging	Het
Chst8	T	C	7: 34,375,149 (GRCm39)	D230G	probably damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Cst12	A	G	2: 148,631,393 (GRCm39)	E38G	possibly damaging	Het
Disp1	G	T	1: 182,869,660 (GRCm39)	A920E	probably damaging	Het
Dtna	T	G	18: 23,668,206 (GRCm39)		probably null	Het
Elp3	T	A	14: 65,820,378 (GRCm39)	H97L	probably damaging	Het
Exoc8	A	G	8: 125,624,314 (GRCm39)	F18L	possibly damaging	Het
Extl3	T	C	14: 65,314,769 (GRCm39)	T138A	probably benign	Het
Foxi2	G	T	7: 135,012,396 (GRCm39)	G95C	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Frem1	A	T	4: 82,907,426 (GRCm39)	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,608,259 (GRCm39)	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,200 (GRCm39)	*499K	probably null	Het
Galc	C	T	12: 98,209,003 (GRCm39)	G217D	possibly damaging	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,064,809 (GRCm39)	*521C	probably null	Het
Hnrnpul1	A	G	7: 25,442,436 (GRCm39)	S269P	probably benign	Het
Hrh1	T	C	6: 114,457,496 (GRCm39)	V259A	probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Mtf2	T	C	5: 108,241,218 (GRCm39)	I248T	probably benign	Het
Myo16	T	C	8: 10,485,880 (GRCm39)	F653S	probably damaging	Het
Myo1e	T	C	9: 70,250,417 (GRCm39)		probably null	Het
Myo5a	G	T	9: 75,023,618 (GRCm39)		probably benign	Het
Nlrp1b	T	A	11: 71,073,489 (GRCm39)	D118V	probably damaging	Het
Npat	T	C	9: 53,483,920 (GRCm39)	F1412S	probably damaging	Het
Onecut3	G	T	10: 80,331,541 (GRCm39)	A234S	unknown	Het
Or1ad1	G	A	11: 50,875,602 (GRCm39)	E25K	probably benign	Het
Or8b37	T	G	9: 37,959,436 (GRCm39)	L306R	probably benign	Het
Osbpl6	T	A	2: 76,376,344 (GRCm39)	I73K	probably damaging	Het
Otog	C	T	7: 45,937,943 (GRCm39)	T1884I	probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pias4	A	G	10: 80,999,868 (GRCm39)	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,809,687 (GRCm39)	V97D	possibly damaging	Het
Plekhf1	A	G	7: 37,921,022 (GRCm39)	V182A	probably damaging	Het
Plscr4	T	C	9: 92,366,833 (GRCm39)	V149A	probably damaging	Het
Polr2l	A	T	7: 141,053,309 (GRCm39)	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,596,250 (GRCm39)	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068 (GRCm38)	A311T	probably benign	Het
Raet1e	T	G	10: 22,057,231 (GRCm39)	I185R	probably damaging	Het
Rims1	A	C	1: 22,518,543 (GRCm39)	V520G	probably damaging	Het
Rp1	A	T	1: 4,416,101 (GRCm39)	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,587,868 (GRCm39)	I352N	probably damaging	Het
Rtp3	T	C	9: 110,816,418 (GRCm39)		probably benign	Het
Ryr3	T	A	2: 112,563,376 (GRCm39)		probably null	Het
Sall3	A	G	18: 81,017,691 (GRCm39)	V79A	probably damaging	Het
Sdsl	C	T	5: 120,600,119 (GRCm39)	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390 (GRCm39)	N197D	probably benign	Het
Slit1	T	A	19: 41,709,483 (GRCm39)	R137*	probably null	Het
Stxbp5	C	A	10: 9,646,367 (GRCm39)	R115L	probably damaging	Het
Tcea1	G	A	1: 4,965,167 (GRCm39)	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,325,338 (GRCm39)	T113S	probably damaging	Het
Tpp1	A	T	7: 105,398,458 (GRCm39)	I286N	probably damaging	Het
Trio	G	A	15: 27,732,624 (GRCm39)	R3086*	probably null	Het
Usp22	T	A	11: 61,051,462 (GRCm39)	N294Y	probably damaging	Het
Usp44	T	A	10: 93,681,933 (GRCm39)	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,653,384 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,304,372 (GRCm39)	Y1204C	possibly damaging	Het

Other mutations in Muc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-11-11