Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Muc2'

219492

Institutional Source

Beutler Lab

Gene Symbol

Muc2

Ensembl Gene

ENSMUSG00000025515

Gene Name

mucin 2

Synonyms

2010015E03Rik

MMRRC Submission

040019-MU

Accession Numbers

Genbank: BC034197; MGI: 1339364

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R2010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141690340-141754693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141700875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 208 (T208S)

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

possibly damaging
Transcript: ENSMUST00000167366
AA Change: T207S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128250
Gene: ENSMUSG00000025515
AA Change: T207S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000185823
AA Change: T208S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140855
Gene: ENSMUSG00000025515
AA Change: T208S

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,481,806	G74S	unknown	Het
4930452B06Rik	A	T	14: 8,511,021	F464L	probably damaging	Het
4932438A13Rik	T	G	3: 36,928,551	N788K	probably benign	Het
Aimp1	A	T	3: 132,667,492	L229Q	probably benign	Het
Arhgef6	T	C	X: 57,299,505	T52A	possibly damaging	Het
Aste1	C	A	9: 105,403,502	H25Q	probably damaging	Het
Atp13a1	G	A	8: 69,791,360	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,272,778	V634A	probably damaging	Het
C1s1	A	T	6: 124,537,394	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,274,868	S612G	probably damaging	Het
Cdh23	C	A	10: 60,314,227	R2611L	probably damaging	Het
Cilp2	A	G	8: 69,881,694	Y885H	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,956	I1544M	possibly damaging	Het
Dhrs3	C	T	4: 144,927,188	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,458,358		probably null	Het
Dnah3	T	G	7: 120,095,177	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,719,283	I664T	probably benign	Het
Eif4e	C	T	3: 138,555,458	T171I	probably benign	Het
Elfn1	C	T	5: 139,973,316	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,879,372	M1K	probably null	Het
Evi5	C	A	5: 107,813,545		probably null	Het
Fancd2	A	T	6: 113,593,291	D1401V	probably damaging	Het
Fat2	G	A	11: 55,253,827	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,435,802	V55E	probably benign	Het
Fnip1	A	G	11: 54,482,503	D180G	probably damaging	Het
Galc	A	G	12: 98,254,230	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,301,729	V69M	unknown	Het
Glis2	A	G	16: 4,608,711	E22G	probably damaging	Het
Hist1h2bb	G	A	13: 23,747,128	V112M	possibly damaging	Het
Hps4	T	A	5: 112,369,476	V243E	probably damaging	Het
Ighe	T	A	12: 113,271,488	I351F	unknown	Het
Irak4	A	T	15: 94,551,806	R55S	probably damaging	Het
Itpr2	G	A	6: 146,227,524		probably null	Het
Kirrel3	T	C	9: 34,939,198	Y41H	probably damaging	Het
Krr1	A	G	10: 111,975,569	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,301,235	V250I	probably damaging	Het
Lipf	A	G	19: 33,973,546	N306D	probably benign	Het
Lman2l	C	T	1: 36,445,181	W18*	probably null	Het
Lztfl1	T	A	9: 123,702,186	N239I	possibly damaging	Het
Mief1	T	C	15: 80,247,925	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,534	S465*	probably null	Het
Myh8	A	T	11: 67,297,164	K921*	probably null	Het
Myh9	T	C	15: 77,771,947	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393	S213P	probably damaging	Het
Nol10	A	G	12: 17,416,101	E499G	probably benign	Het
Nxn	T	C	11: 76,398,801	E87G	probably damaging	Het
Olfr293	A	G	7: 86,664,603	T314A	probably benign	Het
Olfr568	T	A	7: 102,877,685	C188*	probably null	Het
Olfr937	T	C	9: 39,060,099	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,775,354		probably benign	Het
Pigk	A	G	3: 152,766,514	I354M	probably damaging	Het
Pigl	T	A	11: 62,458,682	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,812,114	I400N	probably benign	Het
Prkg2	T	A	5: 99,024,805	H17L	probably benign	Het
Psmd1	T	A	1: 86,075,997	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,278,281	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,294,993	T134A	probably benign	Het
Rims1	T	C	1: 22,296,996	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,872,937	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212	P173S	probably benign	Het
Selenov	A	T	7: 28,288,022	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,217,323	L148Q	probably damaging	Het
Slc10a1	C	T	12: 80,960,447	V187I	probably benign	Het
Spsb2	A	G	6: 124,810,376	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,687,402	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,475,199		noncoding transcript	Het
Tnrc6a	C	G	7: 123,171,046	H686Q	probably benign	Het
Trpc2	T	A	7: 102,094,573	F715L	probably benign	Het
Ube2t	T	A	1: 134,969,298	I56N	probably benign	Het
Ubr4	T	C	4: 139,480,652	Y4915H	possibly damaging	Het
Usp32	T	A	11: 85,040,004	E533D	probably damaging	Het
Vipr2	T	G	12: 116,122,810		probably null	Het
Vmn1r15	A	G	6: 57,258,284	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,524,447	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,076,208	N139K	probably damaging	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,227,214	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,966,696		probably null	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
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
R4764:Muc2	UTSW	7	141745608	missense	possibly damaging	0.88
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
R8701:Muc2	UTSW	7	141695607	missense	probably damaging	1.00
R8883:Muc2	UTSW	7	141700900	missense	probably damaging	0.98
R8894:Muc2	UTSW	7	141694515	missense	probably damaging	1.00
R8905:Muc2	UTSW	7	141693400	missense	probably benign	0.00
R9024:Muc2	UTSW	7	141701367	missense	probably damaging	0.98
R9032:Muc2	UTSW	7	141700489	missense	probably damaging	1.00
R9085:Muc2	UTSW	7	141700489	missense	probably damaging	1.00
R9091:Muc2	UTSW	7	141704267	missense
R9104:Muc2	UTSW	7	141699655	missense	probably damaging	1.00
R9114:Muc2	UTSW	7	141701414	nonsense	probably null
R9270:Muc2	UTSW	7	141704267	missense
R9297:Muc2	UTSW	7	141749022	missense
R9325:Muc2	UTSW	7	141744822	missense
R9354:Muc2	UTSW	7	141753420	missense
R9386:Muc2	UTSW	7	141693146	missense	probably damaging	1.00
R9529:Muc2	UTSW	7	141700884	missense	possibly damaging	0.55
R9550:Muc2	UTSW	7	141754505	missense	probably damaging	1.00
R9583:Muc2	UTSW	7	141746822	missense
R9607:Muc2	UTSW	7	141751453	missense
R9646:Muc2	UTSW	7	141690400	missense	probably benign
R9651:Muc2	UTSW	7	141701445	missense	probably damaging	0.99
R9774:Muc2	UTSW	7	141699242	missense	probably benign
R9784:Muc2	UTSW	7	141694542	nonsense	probably null
Z1176:Muc2	UTSW	7	141746714	missense
Z1177:Muc2	UTSW	7	141744794	missense

Predicted Primers

PCR Primer
(F):5'- CGTCCTTTCTTGAGCCATAGTG -3'
(R):5'- TAAGATTCTCAACCCTTGGGCC -3'

Sequencing Primer
(F):5'- TCTTGAGCCATAGTGAGACTCGC -3'
(R):5'- AACCCTTGGGCCTCTCTCAAAG -3'

Posted On

2014-08-25