Mutagenetix > Incidental Mutations

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

Genbank: BC034197; MGI: 1339364

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141690340-141754693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141745608 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 130 (T130M)

Gene Model

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

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: 146,185,219	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,293,766	V176G	probably benign	Het
Abcb1a	T	A	5: 8,715,732		probably null	Het
Acad11	C	A	9: 104,075,877	P102T	probably damaging	Het
Aggf1	T	A	13: 95,364,713	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,198,497	V234I	probably benign	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,147,099	A41E	probably benign	Het
Axin1	C	A	17: 26,173,756	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,056,267	L1353P	probably damaging	Het
Bptf	A	T	11: 107,043,694	V2851E	probably damaging	Het
C9	A	T	15: 6,459,643	E160D	probably damaging	Het
Cbx6	T	C	15: 79,828,680	D182G	probably damaging	Het
Ccdc144b	T	G	3: 36,010,660	*521C	probably null	Het
Cep57l1	T	C	10: 41,721,682	R242G	possibly damaging	Het
Chst8	T	C	7: 34,675,724	D230G	probably damaging	Het
Col3a1	A	C	1: 45,346,110	D129A	probably damaging	Het
Cst12	A	G	2: 148,789,473	E38G	possibly damaging	Het
Disp1	G	T	1: 183,088,096	A920E	probably damaging	Het
Dtna	T	G	18: 23,535,149		probably null	Het
Elp3	T	A	14: 65,582,929	H97L	probably damaging	Het
Exoc8	A	G	8: 124,897,575	F18L	possibly damaging	Het
Extl3	T	C	14: 65,077,320	T138A	probably benign	Het
Foxi2	G	T	7: 135,410,667	G95C	probably damaging	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Frem1	A	T	4: 82,989,189	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,603,448	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,201	*499K	probably null	Het
Galc	C	T	12: 98,242,744	G217D	possibly damaging	Het
Gm5592	G	T	7: 41,216,118		probably benign	Het
Hnrnpul1	A	G	7: 25,743,011	S269P	probably benign	Het
Hrh1	T	C	6: 114,480,535	V259A	probably benign	Het
Lef1	T	C	3: 131,184,733	S167P	probably benign	Het
Mtf2	T	C	5: 108,093,352	I248T	probably benign	Het
Myo16	T	C	8: 10,435,880	F653S	probably damaging	Het
Myo1e	T	C	9: 70,343,135		probably null	Het
Myo5a	G	T	9: 75,116,336		probably benign	Het
Nlrp1b	T	A	11: 71,182,663	D118V	probably damaging	Het
Npat	T	C	9: 53,572,620	F1412S	probably damaging	Het
Olfr1377	G	A	11: 50,984,775	E25K	probably benign	Het
Olfr884	T	G	9: 38,048,140	L306R	probably benign	Het
Onecut3	G	T	10: 80,495,707	A234S	unknown	Het
Osbpl6	T	A	2: 76,546,000	I73K	probably damaging	Het
Otog	C	T	7: 46,288,519	T1884I	probably benign	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pias4	A	G	10: 81,164,034	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,590,713	V97D	possibly damaging	Het
Plekhf1	A	G	7: 38,221,598	V182A	probably damaging	Het
Plscr4	T	C	9: 92,484,780	V149A	probably damaging	Het
Polr2l	A	T	7: 141,473,396	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,890,489	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068	A311T	probably benign	Het
Raet1e	T	G	10: 22,181,332	I185R	probably damaging	Het
Rims1	A	C	1: 22,479,462	V520G	probably damaging	Het
Rp1	A	T	1: 4,345,878	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,860,557	I352N	probably damaging	Het
Rtp3	T	C	9: 110,987,350		probably benign	Het
Ryr3	T	A	2: 112,733,031		probably null	Het
Sall3	A	G	18: 80,974,476	V79A	probably damaging	Het
Sdsl	C	T	5: 120,462,054	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390	N197D	probably benign	Het
Slit1	T	A	19: 41,721,044	R137*	probably null	Het
Stxbp5	C	A	10: 9,770,623	R115L	probably damaging	Het
Tcea1	G	A	1: 4,894,944	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,434,512	T113S	probably damaging	Het
Tpp1	A	T	7: 105,749,251	I286N	probably damaging	Het
Trio	G	A	15: 27,732,538	R3086*	probably null	Het
Usp22	T	A	11: 61,160,636	N294Y	probably damaging	Het
Usp44	T	A	10: 93,846,071	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,769,183		probably null	Het
Zfhx2	T	C	14: 55,066,915	Y1204C	possibly damaging	Het

Other mutations in Muc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Eeyore	APN	7	141693356	missense	probably benign	0.35
kenny	APN	7		nonsense
Winnie	APN	7	141699460	missense	probably damaging	1.00
IGL01303:Muc2	APN	7	141752395	missense	probably benign
IGL01482:Muc2	APN	7	141754060	missense	probably damaging	0.96
IGL01875:Muc2	APN	7	141752740	missense	probably damaging	0.99
IGL02088:Muc2	APN	7	141751504	missense	probably damaging	1.00
IGL02415:Muc2	APN	7	141751872	nonsense	probably null
IGL02548:Muc2	APN	7	141751857	missense	probably damaging	1.00
IGL02836:Muc2	APN	7	141746713	unclassified	probably benign
IGL03196:Muc2	APN	7	141747630	missense	probably damaging	0.97
Muskatenwein	UTSW	7	141753439	missense	unknown
nomoco	UTSW	7	141753719	missense	probably damaging	1.00
Schlendrian	UTSW	7	141695682	missense	probably damaging	1.00
Seco	UTSW	7	141698733	missense	probably damaging	1.00
BB001:Muc2	UTSW	7	141695388	missense	probably damaging	1.00
BB011:Muc2	UTSW	7	141695388	missense	probably damaging	1.00
E0370:Muc2	UTSW	7	141696355	missense	probably damaging	1.00
R0127:Muc2	UTSW	7	141748954	missense	probably benign	0.00
R0179:Muc2	UTSW	7	141748971	missense	probably damaging	1.00
R0201:Muc2	UTSW	7	141699185	frame shift	probably null
R0299:Muc2	UTSW	7	141752729	missense	probably damaging	1.00
R0547:Muc2	UTSW	7	141699185	frame shift	probably null
R0699:Muc2	UTSW	7	141752300	missense	probably damaging	1.00
R0900:Muc2	UTSW	7	141699185	frame shift	probably null
R1348:Muc2	UTSW	7	141699185	frame shift	probably null
R1466:Muc2	UTSW	7	141748974	missense	probably damaging	1.00
R1466:Muc2	UTSW	7	141748974	missense	probably damaging	1.00
R1625:Muc2	UTSW	7	141697162	missense	probably damaging	1.00
R2010:Muc2	UTSW	7	141700875	missense	probably damaging	0.99
R2149:Muc2	UTSW	7	141699185	frame shift	probably null
R2163:Muc2	UTSW	7	141699185	frame shift	probably null
R3008:Muc2	UTSW	7	141695104	missense	possibly damaging	0.93
R3110:Muc2	UTSW	7	141745488	unclassified	probably benign
R3112:Muc2	UTSW	7	141745488	unclassified	probably benign
R3424:Muc2	UTSW	7	141693352	missense	probably damaging	0.99
R3786:Muc2	UTSW	7	141697347	missense	probably benign	0.01
R3854:Muc2	UTSW	7	141754344	missense	probably damaging	1.00
R3964:Muc2	UTSW	7	141699664	missense	probably benign	0.17
R3965:Muc2	UTSW	7	141699664	missense	probably benign	0.17
R3966:Muc2	UTSW	7	141699664	missense	probably benign	0.17
R3973:Muc2	UTSW	7	141746804	unclassified	probably benign
R3974:Muc2	UTSW	7	141746804	unclassified	probably benign
R3976:Muc2	UTSW	7	141746804	unclassified	probably benign
R4327:Muc2	UTSW	7	141695334	missense	probably damaging	0.96
R4694:Muc2	UTSW	7	141752345	missense	probably damaging	1.00
R4769:Muc2	UTSW	7	141699691	critical splice donor site	probably null
R4798:Muc2	UTSW	7	141754140	missense	probably benign	0.01
R4900:Muc2	UTSW	7	141749543	missense	probably benign	0.32
R5383:Muc2	UTSW	7	141753719	missense	probably damaging	1.00
R5489:Muc2	UTSW	7	141751432	missense	probably benign	0.00
R5615:Muc2	UTSW	7	141691203	missense	probably damaging	1.00
R5856:Muc2	UTSW	7	141745644	unclassified	probably benign
R5919:Muc2	UTSW	7	141694928	missense	probably damaging	0.97
R5953:Muc2	UTSW	7	141701382	missense	probably damaging	0.96
R5979:Muc2	UTSW	7	141697250	splice site	probably null
R5979:Muc2	UTSW	7	141751406	missense	probably damaging	0.99
R6175:Muc2	UTSW	7	141696632	missense	probably damaging	1.00
R6213:Muc2	UTSW	7	141751414	missense	probably damaging	1.00
R6281:Muc2	UTSW	7	141752403	missense	probably damaging	1.00
R6321:Muc2	UTSW	7	141700828	missense	probably benign	0.28
R6390:Muc2	UTSW	7	141752146	missense	probably damaging	0.97
R6485:Muc2	UTSW	7	141746736	unclassified	probably benign
R6582:Muc2	UTSW	7	141696698	missense	probably benign	0.00
R6683:Muc2	UTSW	7	141751477	missense	probably benign	0.38
R6896:Muc2	UTSW	7	141752695	missense	possibly damaging	0.48
R6906:Muc2	UTSW	7	141698733	missense	probably damaging	1.00
R6924:Muc2	UTSW	7	141697834	missense	possibly damaging	0.87
R7040:Muc2	UTSW	7	141751457	missense	unknown
R7222:Muc2	UTSW	7	141704209	missense
R7251:Muc2	UTSW	7	141692722	missense	possibly damaging	0.91
R7282:Muc2	UTSW	7	141752744	missense
R7315:Muc2	UTSW	7	141690402	missense	probably damaging	0.99
R7421:Muc2	UTSW	7	141748126	missense
R7556:Muc2	UTSW	7	141753702	missense
R7651:Muc2	UTSW	7	141704201	missense
R7710:Muc2	UTSW	7	141700883	missense	possibly damaging	0.92
R7776:Muc2	UTSW	7	141704393	missense
R7813:Muc2	UTSW	7	141696300	splice site	probably null
R7843:Muc2	UTSW	7	141695419	missense	probably benign	0.03
R7869:Muc2	UTSW	7	141749734	missense
R7924:Muc2	UTSW	7	141695388	missense	probably damaging	1.00
R7993:Muc2	UTSW	7	141754436	missense
R8053:Muc2	UTSW	7	141698332	missense	probably benign	0.01
R8068:Muc2	UTSW	7	141744685	missense
R8099:Muc2	UTSW	7	141745438	splice site	probably null
R8192:Muc2	UTSW	7	141751478	missense
R8194:Muc2	UTSW	7	141704252	missense
R8545:Muc2	UTSW	7	141752393	missense	unknown
Z1176:Muc2	UTSW	7	141746714	missense
Z1177:Muc2	UTSW	7	141744794	missense

Predicted Primers

Posted On

2015-11-11