Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Reg3b'

202038

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

039824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78347868-78350449 bp(+) (GRCm39)

Type of Mutation

splice site (3710 bp from exon)

DNA Base Change (assembly)

G to T at 78349197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144715 (fasta)

Gene Model

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

AlphaFold

P35230

Predicted Effect

probably null
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 damaging
Transcript: ENSMUST00000096904
AA Change: D108Y

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

SMART Domains

Protein: ENSMUSP00000094667
Gene: ENSMUSG00000071356
AA Change: D108Y

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

Predicted Effect

probably null
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

probably damaging
Transcript: ENSMUST00000203266
AA Change: D108Y

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

SMART Domains

Protein: ENSMUSP00000145528
Gene: ENSMUSG00000071356
AA Change: D108Y

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 damaging
Transcript: ENSMUST00000204873
AA Change: D108Y

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

SMART Domains

Protein: ENSMUSP00000145280
Gene: ENSMUSG00000071356
AA Change: D108Y

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

Predicted Effect

probably null
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

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa7	A	G	14: 20,521,535 (GRCm39)	Y54H	unknown	Het
Arhgef3	A	G	14: 27,119,562 (GRCm39)	T331A	probably benign	Het
Arhgef40	G	T	14: 52,227,387 (GRCm39)	C477F	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a5	C	A	16: 29,140,527 (GRCm39)	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,507,719 (GRCm39)		probably benign	Het
Btbd2	G	T	10: 80,479,747 (GRCm39)	D426E	probably damaging	Het
Cabin1	A	C	10: 75,561,579 (GRCm39)	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,273,323 (GRCm39)	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,845,594 (GRCm39)	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,095,550 (GRCm39)	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,019,159 (GRCm39)	V40A	probably benign	Het
Cdcp1	T	C	9: 123,044,896 (GRCm39)	T27A	probably benign	Het
Cdh4	C	T	2: 179,528,635 (GRCm39)	T581I	probably damaging	Het
Cgn	A	G	3: 94,669,864 (GRCm39)		probably null	Het
Col7a1	G	A	9: 108,794,996 (GRCm39)	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302 (GRCm39)	E133G	probably benign	Het
Dchs1	T	C	7: 105,420,927 (GRCm39)	T498A	probably benign	Het
Dis3l	A	C	9: 64,225,058 (GRCm39)	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,001,941 (GRCm39)	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,446,564 (GRCm39)	Y139C	probably damaging	Het
Fat3	A	T	9: 15,908,432 (GRCm39)	Y2523*	probably null	Het
Fat3	A	T	9: 15,908,434 (GRCm39)	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,087,973 (GRCm39)	S40P	probably benign	Het
Gm4792	T	C	10: 94,134,352 (GRCm39)	D6G	unknown	Het
Hhat	G	T	1: 192,376,214 (GRCm39)	Y306*	probably null	Het
Hmcn1	A	G	1: 150,474,036 (GRCm39)	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,502,903 (GRCm39)	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,554,238 (GRCm39)	N79K	probably damaging	Het
Ikbke	T	A	1: 131,186,955 (GRCm39)	Y579F	probably damaging	Het
Jak2	A	G	19: 29,276,957 (GRCm39)	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,271,223 (GRCm39)	S702P	probably benign	Het
Lingo3	C	A	10: 80,671,432 (GRCm39)	R166L	probably benign	Het
Lins1	T	C	7: 66,361,657 (GRCm39)	F436S	probably damaging	Het
Lman1	T	C	18: 66,124,755 (GRCm39)	D328G	probably benign	Het
Lox	A	G	18: 52,661,379 (GRCm39)	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,529,421 (GRCm39)	V165A	probably benign	Het
Map9	A	G	3: 82,287,528 (GRCm39)	D50G	probably damaging	Het
Marchf1	T	A	8: 66,839,594 (GRCm39)	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,965,982 (GRCm39)	F3L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nin	G	A	12: 70,090,569 (GRCm39)	Q949*	probably null	Het
Nlgn3	A	G	X: 100,363,639 (GRCm39)	H636R	probably benign	Het
Notch2	A	G	3: 98,006,863 (GRCm39)	D411G	possibly damaging	Het
Or4c52	A	G	2: 89,845,364 (GRCm39)	Y30C	probably damaging	Het
Or5b24	G	C	19: 12,912,332 (GRCm39)	A77P	probably damaging	Het
Pate7	T	A	9: 35,688,418 (GRCm39)	I56F	probably benign	Het
Plekha7	A	G	7: 115,739,916 (GRCm39)	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,533,528 (GRCm39)		probably benign	Het
Rab7b	T	C	1: 131,624,806 (GRCm39)		probably null	Het
Rgs20	A	G	1: 4,980,795 (GRCm39)	Y177H	probably damaging	Het
Ripk3	G	T	14: 56,022,786 (GRCm39)	N379K	probably benign	Het
Rnf220	G	T	4: 117,164,765 (GRCm39)	Q7K	probably benign	Het
Ros1	T	A	10: 52,000,199 (GRCm39)	K1109*	probably null	Het
Slc22a7	T	G	17: 46,744,079 (GRCm39)	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,644,326 (GRCm39)	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,533,952 (GRCm39)	I1100F	probably damaging	Het
Smco1	A	G	16: 32,092,950 (GRCm39)	E207G	probably benign	Het
Snrnp200	A	G	2: 127,058,656 (GRCm39)	E369G	probably benign	Het
Spata31d1e	T	C	13: 59,890,434 (GRCm39)	E44G	probably benign	Het
Tcf4	T	A	18: 69,790,924 (GRCm39)	M178K	probably benign	Het
Tex2	T	C	11: 106,458,728 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,972,877 (GRCm39)	I521N	probably damaging	Het
Tmem203	A	G	2: 25,146,006 (GRCm39)	T109A	probably benign	Het
Tmem50b	T	C	16: 91,374,917 (GRCm39)	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,595,006 (GRCm39)	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,708,521 (GRCm39)	R101W	probably damaging	Het
Vmn2r79	G	A	7: 86,650,621 (GRCm39)	V136I	probably benign	Het
Wdr38	A	G	2: 38,890,741 (GRCm39)	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,406,264 (GRCm39)	F442L	probably damaging	Het
Znrf4	A	G	17: 56,818,599 (GRCm39)	I236T	probably damaging	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
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
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'- CCTTCCATCTGAGAATAGCTGAC -3'
(R):5'- CATAGAGCTCAGCTTGACAACTG -3'

Sequencing Primer
(F):5'- TACCTATGTCTTCCAGTGAAGTC -3'
(R):5'- AGCTTGACAACTGCTCCTGATGG -3'

Posted On

2014-06-23