Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Reg3b'

19345

Institutional Source

Beutler Lab

Gene Symbol

Reg3b

Ensembl Gene

ENSMUSG00000071356

Gene Name

regenerating islet-derived 3 beta

Synonyms

REG-III, PAP1, RegIII (beta), Pap

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0017 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

78347868-78350449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78349844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 128 (M128K)

Ref Sequence

ENSEMBL: ENSMUSP00000145528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089667] [ENSMUST00000096904] [ENSMUST00000167492] [ENSMUST00000203266] [ENSMUST00000204873] [ENSMUST00000205240]

AlphaFold

P35230

Predicted Effect

probably benign
Transcript: ENSMUST00000089667

SMART Domains

Protein: ENSMUSP00000087096
Gene: ENSMUSG00000068341

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	172	6.99e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096904
AA Change: M128K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000094667
Gene: ENSMUSG00000071356
AA Change: M128K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	172	1.12e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167492

SMART Domains

Protein: ENSMUSP00000132220
Gene: ENSMUSG00000068341

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	126	1.66e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203266
AA Change: M128K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145528
Gene: ENSMUSG00000071356
AA Change: M128K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	143	5e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204760

Predicted Effect

probably benign
Transcript: ENSMUST00000204873
AA Change: M128K

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145280
Gene: ENSMUSG00000071356
AA Change: M128K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	140	1.6e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205240

SMART Domains

Protein: ENSMUSP00000144715
Gene: ENSMUSG00000068341

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	126	1.66e-1	SMART

Meta Mutation Damage Score

0.4295

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.2%

Validation Efficiency

96% (76/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014]
PHENOTYPE: Male homozygous mice exhibit impaired glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,242,775 (GRCm39)	I1546N	probably damaging	Het
Actrt3	A	T	3: 30,652,422 (GRCm39)	M224K	probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Appbp2	A	C	11: 85,105,129 (GRCm39)	C146G	possibly damaging	Het
Cabp2	A	C	19: 4,136,242 (GRCm39)	D83A	possibly damaging	Het
Ccl1	A	G	11: 82,068,843 (GRCm39)		probably null	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Efr3b	C	A	12: 4,043,003 (GRCm39)	C89F	probably damaging	Het
Enpp3	C	T	10: 24,675,051 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,821,395 (GRCm39)	V2467E	probably damaging	Het
Ermap	T	C	4: 119,037,145 (GRCm39)		probably benign	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gnb1l	T	C	16: 18,359,810 (GRCm39)	W72R	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Hrc	A	G	7: 44,985,794 (GRCm39)	H315R	possibly damaging	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kcng4	T	C	8: 120,360,259 (GRCm39)	Y39C	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Kntc1	A	G	5: 123,919,044 (GRCm39)	Y805C	probably damaging	Het
Mal	A	G	2: 127,482,227 (GRCm39)	S59P	probably damaging	Het
Myh15	A	G	16: 48,983,423 (GRCm39)	N1513D	probably damaging	Het
Ncoa2	A	G	1: 13,244,976 (GRCm39)	L574P	probably damaging	Het
Nmd3	A	G	3: 69,643,425 (GRCm39)		probably null	Het
Nucb2	A	G	7: 116,132,386 (GRCm39)	D331G	probably benign	Het
Nwd1	T	C	8: 73,436,053 (GRCm39)		probably benign	Het
Nynrin	T	C	14: 56,109,852 (GRCm39)	F1653S	probably damaging	Het
Or4a80	A	C	2: 89,582,365 (GRCm39)	I269S	possibly damaging	Het
Or7c19	T	A	8: 85,957,706 (GRCm39)	I194N	probably benign	Het
Or8b12b	T	G	9: 37,684,274 (GRCm39)	F106L	probably benign	Het
Pfdn6	T	C	17: 34,158,538 (GRCm39)	R79G	probably damaging	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Pramel4	T	G	4: 143,794,914 (GRCm39)	C434G	probably benign	Het
Ptpn13	T	C	5: 103,634,638 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Rabl6	A	T	2: 25,492,579 (GRCm39)		probably benign	Het
Rif1	A	G	2: 52,006,686 (GRCm39)	T2207A	probably benign	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,746,967 (GRCm39)	E3760V	probably damaging	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Serpinb9h	A	C	13: 33,588,494 (GRCm39)	I360L	probably damaging	Het
Slc16a12	A	G	19: 34,650,098 (GRCm39)		probably benign	Het
Slc22a1	A	G	17: 12,878,646 (GRCm39)	F356L	probably damaging	Het
Slc22a29	A	G	19: 8,195,630 (GRCm39)		probably benign	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,182,061 (GRCm39)		probably benign	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Snrk	T	C	9: 121,995,306 (GRCm39)	S362P	probably damaging	Het
Spata31d1b	A	G	13: 59,863,883 (GRCm39)	S344G	probably benign	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Taf5l	T	C	8: 124,730,383 (GRCm39)	Y67C	probably damaging	Het
Tbkbp1	A	G	11: 97,037,115 (GRCm39)		probably benign	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Unc13c	T	C	9: 73,600,583 (GRCm39)	D1387G	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Vmn2r127	A	G	17: 19,373,879 (GRCm39)		noncoding transcript	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	Het

Other mutations in Reg3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03143:Reg3b	APN	6	78,349,183 (GRCm39)	nonsense	probably null
R0017:Reg3b	UTSW	6	78,349,844 (GRCm39)	missense	possibly damaging	0.48
R0413:Reg3b	UTSW	6	78,348,824 (GRCm39)	missense	probably damaging	1.00
R1321:Reg3b	UTSW	6	78,349,936 (GRCm39)	splice site	probably null
R1794:Reg3b	UTSW	6	78,349,197 (GRCm39)	splice site	probably null
R1960:Reg3b	UTSW	6	78,348,797 (GRCm39)	missense	probably damaging	0.98
R2513:Reg3b	UTSW	6	78,348,802 (GRCm39)	missense	probably benign	0.00
R3877:Reg3b	UTSW	6	78,348,216 (GRCm39)	missense	possibly damaging	0.65
R4033:Reg3b	UTSW	6	78,350,192 (GRCm39)	missense	possibly damaging	0.71
R4874:Reg3b	UTSW	6	78,349,809 (GRCm39)	missense	possibly damaging	0.53
R5118:Reg3b	UTSW	6	78,349,111 (GRCm39)	missense	probably damaging	1.00
R5301:Reg3b	UTSW	6	78,348,243 (GRCm39)	missense	probably damaging	0.96
R5344:Reg3b	UTSW	6	78,349,843 (GRCm39)	missense	probably benign	0.02
R5408:Reg3b	UTSW	6	78,350,215 (GRCm39)	missense	probably benign
R5824:Reg3b	UTSW	6	78,349,104 (GRCm39)	missense	possibly damaging	0.83
R6643:Reg3b	UTSW	6	78,349,905 (GRCm39)	missense	possibly damaging	0.53
R9055:Reg3b	UTSW	6	78,349,886 (GRCm39)	missense	possibly damaging	0.57
Z1176:Reg3b	UTSW	6	78,349,811 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ATGATCACCCAAGTTCTGGGAGGC -3'
(R):5'- TGCAGACATAGGGCAACTTCACC -3'

Sequencing Primer
(F):5'- AGTTCTGGGAGGCTGGGAG -3'
(R):5'- TGAGCACTCAGAATCTTGGGTAAC -3'

Posted On

2013-04-11