Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Muc2'

297923

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Muc2

Ensembl Gene

ENSMUSG00000025515

Gene Name

mucin 2

Synonyms

2010015E03Rik

Accession Numbers

Genbank: BC034197; MGI: 1339364

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

141690340-141754693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141751857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 202 (C202S)

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: C202S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026590
Gene: ENSMUSG00000025515
AA Change: C202S

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

unknown
Transcript: ENSMUST00000187945
AA Change: C641S

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 46,005,262 (GRCm38)	A545V	probably damaging	Het
Adam29	A	T	8: 55,872,867 (GRCm38)	L184*	probably null	Het
Ap1g1	C	T	8: 109,849,622 (GRCm38)	A432V	probably damaging	Het
Atrn	C	T	2: 130,972,282 (GRCm38)	T716I	probably damaging	Het
B020004J07Rik	T	A	4: 101,835,573 (GRCm38)	Y410F	probably damaging	Het
Bahd1	C	A	2: 118,917,045 (GRCm38)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,455,525 (GRCm38)	V256A	probably benign	Het
Camta2	A	G	11: 70,670,685 (GRCm38)	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,650,122 (GRCm38)	T38K	probably benign	Het
Cmtm3	T	C	8: 104,344,805 (GRCm38)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,318,255 (GRCm38)		probably benign	Het
Cyp2c29	G	A	19: 39,290,847 (GRCm38)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,639,248 (GRCm38)	R650L	probably benign	Het
Fpr1	T	A	17: 17,876,653 (GRCm38)	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,862,286 (GRCm38)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,099,899 (GRCm38)	T958A	probably benign	Het
Gm3573	A	G	14: 42,187,495 (GRCm38)		probably null	Het
Hspbp1	T	C	7: 4,681,841 (GRCm38)		probably benign	Het
Jhy	G	T	9: 40,917,175 (GRCm38)	Y478*	probably null	Het
Kiz	A	G	2: 146,870,770 (GRCm38)	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,253,718 (GRCm38)	Y144C	probably benign	Het
Lamc3	A	T	2: 31,920,662 (GRCm38)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,694,704 (GRCm38)	E204G	probably benign	Het
Nfatc1	T	C	18: 80,697,898 (GRCm38)	S282G	probably damaging	Het
Olfr1465	T	C	19: 13,313,938 (GRCm38)	M116V	probably damaging	Het
Olfr175-ps1	C	A	16: 58,824,328 (GRCm38)	C127F	probably benign	Het
Olfr531	T	A	7: 140,400,662 (GRCm38)	Y128F	probably damaging	Het
Orc2	A	T	1: 58,466,122 (GRCm38)		probably benign	Het
Pcdhb10	T	C	18: 37,412,690 (GRCm38)	I273T	probably benign	Het
Pdzph1	G	A	17: 58,973,391 (GRCm38)	T632I	probably benign	Het
Phf1	A	G	17: 26,935,626 (GRCm38)	Y225C	probably damaging	Het
Prcp	T	C	7: 92,901,174 (GRCm38)	F60L	probably damaging	Het
Psg21	C	T	7: 18,655,036 (GRCm38)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 44,858,614 (GRCm38)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,727,680 (GRCm38)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,444,665 (GRCm38)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,118 (GRCm38)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,949,759 (GRCm38)		probably benign	Het
Skint5	T	A	4: 113,731,076 (GRCm38)	M726L	unknown	Het
Slc6a18	T	C	13: 73,669,995 (GRCm38)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,204,156 (GRCm38)		probably benign	Het
Tacr3	C	A	3: 134,829,471 (GRCm38)	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,624,822 (GRCm38)	K534*	probably null	Het
Timp3	T	A	10: 86,338,451 (GRCm38)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,736,774 (GRCm38)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,221,647 (GRCm38)		probably benign	Het
Tubal3	A	G	13: 3,930,554 (GRCm38)	R89G	probably benign	Het
Wdr35	A	T	12: 9,024,297 (GRCm38)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm38)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,612,529 (GRCm38)	H628L	unknown	Het
Zmynd8	A	G	2: 165,833,405 (GRCm38)	V301A	probably 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	141,699,460 (GRCm38)	missense	probably damaging	1.00
IGL01303:Muc2	APN	7	141,752,395 (GRCm38)	missense	probably benign
IGL01482:Muc2	APN	7	141,754,060 (GRCm38)	missense	probably damaging	0.96
IGL01875:Muc2	APN	7	141,752,740 (GRCm38)	missense	probably damaging	0.99
IGL02088:Muc2	APN	7	141,751,504 (GRCm38)	missense	probably damaging	1.00
IGL02415:Muc2	APN	7	141,751,872 (GRCm38)	nonsense	probably null
IGL02836:Muc2	APN	7	141,746,713 (GRCm38)	unclassified	probably benign
IGL03196:Muc2	APN	7	141,747,630 (GRCm38)	missense	probably damaging	0.97
Muskatenwein	UTSW	7	141,753,439 (GRCm38)	missense	unknown
nomoco	UTSW	7	141,753,719 (GRCm38)	missense	probably damaging	1.00
Schlendrian	UTSW	7	141,695,682 (GRCm38)	missense	probably damaging	1.00
Seco	UTSW	7	141,698,733 (GRCm38)	missense	probably damaging	1.00
BB001:Muc2	UTSW	7	141,695,388 (GRCm38)	missense	probably damaging	1.00
BB011:Muc2	UTSW	7	141,695,388 (GRCm38)	missense	probably damaging	1.00
E0370:Muc2	UTSW	7	141,696,355 (GRCm38)	missense	probably damaging	1.00
R0127:Muc2	UTSW	7	141,748,954 (GRCm38)	missense	probably benign	0.00
R0179:Muc2	UTSW	7	141,748,971 (GRCm38)	missense	probably damaging	1.00
R0201:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R0299:Muc2	UTSW	7	141,752,729 (GRCm38)	missense	probably damaging	1.00
R0547:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R0699:Muc2	UTSW	7	141,752,300 (GRCm38)	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	141,748,974 (GRCm38)	missense	probably damaging	1.00
R1466:Muc2	UTSW	7	141,748,974 (GRCm38)	missense	probably damaging	1.00
R1625:Muc2	UTSW	7	141,697,162 (GRCm38)	missense	probably damaging	1.00
R2010:Muc2	UTSW	7	141,700,875 (GRCm38)	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	141,695,104 (GRCm38)	missense	possibly damaging	0.93
R3110:Muc2	UTSW	7	141,745,488 (GRCm38)	unclassified	probably benign
R3112:Muc2	UTSW	7	141,745,488 (GRCm38)	unclassified	probably benign
R3424:Muc2	UTSW	7	141,693,352 (GRCm38)	missense	probably damaging	0.99
R3786:Muc2	UTSW	7	141,697,347 (GRCm38)	missense	probably benign	0.01
R3854:Muc2	UTSW	7	141,754,344 (GRCm38)	missense	probably damaging	1.00
R3964:Muc2	UTSW	7	141,699,664 (GRCm38)	missense	probably benign	0.17
R3965:Muc2	UTSW	7	141,699,664 (GRCm38)	missense	probably benign	0.17
R3966:Muc2	UTSW	7	141,699,664 (GRCm38)	missense	probably benign	0.17
R3973:Muc2	UTSW	7	141,746,804 (GRCm38)	unclassified	probably benign
R3974:Muc2	UTSW	7	141,746,804 (GRCm38)	unclassified	probably benign
R3976:Muc2	UTSW	7	141,746,804 (GRCm38)	unclassified	probably benign
R4327:Muc2	UTSW	7	141,695,334 (GRCm38)	missense	probably damaging	0.96
R4694:Muc2	UTSW	7	141,752,345 (GRCm38)	missense	probably damaging	1.00
R4764:Muc2	UTSW	7	141,745,608 (GRCm38)	missense	possibly damaging	0.88
R4769:Muc2	UTSW	7	141,699,691 (GRCm38)	critical splice donor site	probably null
R4798:Muc2	UTSW	7	141,754,140 (GRCm38)	missense	probably benign	0.01
R4900:Muc2	UTSW	7	141,749,543 (GRCm38)	missense	probably benign	0.32
R5383:Muc2	UTSW	7	141,753,719 (GRCm38)	missense	probably damaging	1.00
R5489:Muc2	UTSW	7	141,751,432 (GRCm38)	missense	probably benign	0.00
R5615:Muc2	UTSW	7	141,691,203 (GRCm38)	missense	probably damaging	1.00
R5856:Muc2	UTSW	7	141,745,644 (GRCm38)	unclassified	probably benign
R5919:Muc2	UTSW	7	141,694,928 (GRCm38)	missense	probably damaging	0.97
R5953:Muc2	UTSW	7	141,701,382 (GRCm38)	missense	probably damaging	0.96
R5979:Muc2	UTSW	7	141,751,406 (GRCm38)	missense	probably damaging	0.99
R5979:Muc2	UTSW	7	141,697,250 (GRCm38)	splice site	probably null
R6175:Muc2	UTSW	7	141,696,632 (GRCm38)	missense	probably damaging	1.00
R6213:Muc2	UTSW	7	141,751,414 (GRCm38)	missense	probably damaging	1.00
R6281:Muc2	UTSW	7	141,752,403 (GRCm38)	missense	probably damaging	1.00
R6321:Muc2	UTSW	7	141,700,828 (GRCm38)	missense	probably benign	0.28
R6390:Muc2	UTSW	7	141,752,146 (GRCm38)	missense	probably damaging	0.97
R6485:Muc2	UTSW	7	141,746,736 (GRCm38)	unclassified	probably benign
R6582:Muc2	UTSW	7	141,696,698 (GRCm38)	missense	probably benign	0.00
R6683:Muc2	UTSW	7	141,751,477 (GRCm38)	missense	probably benign	0.38
R6896:Muc2	UTSW	7	141,752,695 (GRCm38)	missense	possibly damaging	0.48
R6906:Muc2	UTSW	7	141,698,733 (GRCm38)	missense	probably damaging	1.00
R6924:Muc2	UTSW	7	141,697,834 (GRCm38)	missense	possibly damaging	0.87
R7040:Muc2	UTSW	7	141,751,457 (GRCm38)	missense	unknown
R7222:Muc2	UTSW	7	141,704,209 (GRCm38)	missense
R7251:Muc2	UTSW	7	141,692,722 (GRCm38)	missense	possibly damaging	0.91
R7282:Muc2	UTSW	7	141,752,744 (GRCm38)	missense
R7315:Muc2	UTSW	7	141,690,402 (GRCm38)	missense	probably damaging	0.99
R7421:Muc2	UTSW	7	141,748,126 (GRCm38)	missense
R7556:Muc2	UTSW	7	141,753,702 (GRCm38)	missense
R7651:Muc2	UTSW	7	141,704,201 (GRCm38)	missense
R7710:Muc2	UTSW	7	141,700,883 (GRCm38)	missense	possibly damaging	0.92
R7776:Muc2	UTSW	7	141,704,393 (GRCm38)	missense
R7813:Muc2	UTSW	7	141,696,300 (GRCm38)	splice site	probably null
R7843:Muc2	UTSW	7	141,695,419 (GRCm38)	missense	probably benign	0.03
R7869:Muc2	UTSW	7	141,749,734 (GRCm38)	missense
R7924:Muc2	UTSW	7	141,695,388 (GRCm38)	missense	probably damaging	1.00
R7993:Muc2	UTSW	7	141,754,436 (GRCm38)	missense
R8053:Muc2	UTSW	7	141,698,332 (GRCm38)	missense	probably benign	0.01
R8068:Muc2	UTSW	7	141,744,685 (GRCm38)	missense
R8099:Muc2	UTSW	7	141,745,438 (GRCm38)	splice site	probably null
R8192:Muc2	UTSW	7	141,751,478 (GRCm38)	missense
R8194:Muc2	UTSW	7	141,704,252 (GRCm38)	missense
R8545:Muc2	UTSW	7	141,752,393 (GRCm38)	missense	unknown
R8701:Muc2	UTSW	7	141,695,607 (GRCm38)	missense	probably damaging	1.00
R8883:Muc2	UTSW	7	141,700,900 (GRCm38)	missense	probably damaging	0.98
R8894:Muc2	UTSW	7	141,694,515 (GRCm38)	missense	probably damaging	1.00
R8905:Muc2	UTSW	7	141,693,400 (GRCm38)	missense	probably benign	0.00
R9024:Muc2	UTSW	7	141,701,367 (GRCm38)	missense	probably damaging	0.98
R9032:Muc2	UTSW	7	141,700,489 (GRCm38)	missense	probably damaging	1.00
R9085:Muc2	UTSW	7	141,700,489 (GRCm38)	missense	probably damaging	1.00
R9091:Muc2	UTSW	7	141,704,267 (GRCm38)	missense
R9104:Muc2	UTSW	7	141,699,655 (GRCm38)	missense	probably damaging	1.00
R9114:Muc2	UTSW	7	141,701,414 (GRCm38)	nonsense	probably null
R9270:Muc2	UTSW	7	141,704,267 (GRCm38)	missense
R9297:Muc2	UTSW	7	141,749,022 (GRCm38)	missense
R9325:Muc2	UTSW	7	141,744,822 (GRCm38)	missense
R9354:Muc2	UTSW	7	141,753,420 (GRCm38)	missense
R9386:Muc2	UTSW	7	141,693,146 (GRCm38)	missense	probably damaging	1.00
R9529:Muc2	UTSW	7	141,700,884 (GRCm38)	missense	possibly damaging	0.55
R9550:Muc2	UTSW	7	141,754,505 (GRCm38)	missense	probably damaging	1.00
R9583:Muc2	UTSW	7	141,746,822 (GRCm38)	missense
R9607:Muc2	UTSW	7	141,751,453 (GRCm38)	missense
R9646:Muc2	UTSW	7	141,690,400 (GRCm38)	missense	probably benign
R9651:Muc2	UTSW	7	141,701,445 (GRCm38)	missense	probably damaging	0.99
R9774:Muc2	UTSW	7	141,699,242 (GRCm38)	missense	probably benign
R9784:Muc2	UTSW	7	141,694,542 (GRCm38)	nonsense	probably null
Z1176:Muc2	UTSW	7	141,746,714 (GRCm38)	missense
Z1177:Muc2	UTSW	7	141,744,794 (GRCm38)	missense

Posted On

2015-04-16