Mutagenetix > Incidental Mutation

Incidental Mutation 'R6597:Prl3b1'

524967

Institutional Source

Beutler Lab

Gene Symbol

Prl3b1

Ensembl Gene

ENSMUSG00000038891

Gene Name

prolactin family 3, subfamily b, member 1

Synonyms

mplII, PL, Pl-2, mPL-II, Pl2, prolactin-like, Csh2

MMRRC Submission

044721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27426413-27433666 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 27431957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035273] [ENSMUST00000225089]

AlphaFold

P09586

Predicted Effect

probably null
Transcript: ENSMUST00000035273

SMART Domains

Protein: ENSMUSP00000047680
Gene: ENSMUSG00000038891

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	18	222	1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225089

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,625,080 (GRCm39)	Y486C	probably damaging	Het
Asb17	A	T	3: 153,550,321 (GRCm39)	T118S	probably damaging	Het
Atl2	T	A	17: 80,160,195 (GRCm39)	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,949,334 (GRCm39)	M242L	probably benign	Het
Btg1	T	A	10: 96,454,182 (GRCm39)	S65T	probably damaging	Het
Cfap54	T	C	10: 92,834,902 (GRCm39)	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,524,144 (GRCm39)	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,995,523 (GRCm39)	D345A	probably benign	Het
Gys2	T	A	6: 142,402,035 (GRCm39)	H268L	probably benign	Het
Hecw1	T	A	13: 14,491,403 (GRCm39)	R117*	probably null	Het
Hoxd10	G	A	2: 74,522,984 (GRCm39)	A221T	probably benign	Het
Hspa13	A	T	16: 75,562,085 (GRCm39)	L38Q	probably damaging	Het
Inava	G	T	1: 136,153,927 (GRCm39)	A87E	probably damaging	Het
Ipo11	A	G	13: 107,002,371 (GRCm39)		probably null	Het
Itgb8	A	G	12: 119,137,133 (GRCm39)	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,003,117 (GRCm39)	I1370F	probably damaging	Het
Macf1	T	C	4: 123,276,485 (GRCm39)	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,170,303 (GRCm39)	T14A	probably benign	Het
Or11g26	T	A	14: 50,753,008 (GRCm39)	C116S	probably benign	Het
Or55b10	A	T	7: 102,143,628 (GRCm39)	I118N	probably damaging	Het
Or5ac22	C	T	16: 59,135,713 (GRCm39)	R19H	probably benign	Het
Or5d37	A	G	2: 87,923,413 (GRCm39)	F289S	probably damaging	Het
Or8b47	A	T	9: 38,435,300 (GRCm39)	I91F	probably benign	Het
Or9q1	T	A	19: 13,805,821 (GRCm39)		probably benign	Het
Patl2	T	A	2: 122,016,645 (GRCm39)		probably benign	Het
Pcdhga7	T	C	18: 37,850,059 (GRCm39)	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,117,058 (GRCm39)	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,607,984 (GRCm39)	V22A	unknown	Het
Ppil1	C	A	17: 29,480,852 (GRCm39)	V24F	probably benign	Het
Rabgef1	G	A	5: 130,219,885 (GRCm39)		probably null	Het
Rhot2	A	T	17: 26,059,886 (GRCm39)	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,482,381 (GRCm39)	W286R	probably benign	Het
Rrs1	A	G	1: 9,616,601 (GRCm39)	T285A	probably damaging	Het
Shc3	T	A	13: 51,597,009 (GRCm39)	D338V	possibly damaging	Het
Siglech	A	T	7: 55,418,211 (GRCm39)	M60L	probably benign	Het
Slc12a6	G	T	2: 112,183,280 (GRCm39)	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,462,681 (GRCm39)	G507D	probably damaging	Het
Slf1	A	G	13: 77,197,248 (GRCm39)	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,873,871 (GRCm39)	M1221I	probably benign	Het
Srgap1	T	C	10: 121,628,276 (GRCm39)	N899D	probably benign	Het
Stag1	G	A	9: 100,769,473 (GRCm39)	M529I	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tmppe	A	T	9: 114,234,312 (GRCm39)	M204L	probably benign	Het
Tpsg1	G	A	17: 25,588,271 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,628,315 (GRCm39)	V6288A	probably benign	Het
Ttn	A	T	2: 76,723,444 (GRCm39)		probably benign	Het
Twsg1	C	A	17: 66,244,799 (GRCm39)	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,914,450 (GRCm39)	T672A	probably damaging	Het
Vps36	A	G	8: 22,692,320 (GRCm39)	I66V	probably benign	Het
Xrcc4	A	T	13: 90,149,048 (GRCm39)	D157E	probably benign	Het
Zbbx	T	A	3: 75,043,761 (GRCm39)	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,259,297 (GRCm39)	I522L	probably benign	Het
Zscan20	T	C	4: 128,479,539 (GRCm39)	N984S	probably damaging	Het

Other mutations in Prl3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02385:Prl3b1	APN	13	27,433,366 (GRCm39)	missense	possibly damaging	0.51
IGL02669:Prl3b1	APN	13	27,429,795 (GRCm39)	missense	probably benign	0.24
IGL03035:Prl3b1	APN	13	27,433,516 (GRCm39)	unclassified	probably benign
IGL03077:Prl3b1	APN	13	27,429,759 (GRCm39)	missense	probably benign	0.00
Gabby	UTSW	13	27,431,928 (GRCm39)	missense	probably damaging	1.00
peaches	UTSW	13	27,426,473 (GRCm39)	start codon destroyed	probably null	1.00
Pits	UTSW	13	27,431,957 (GRCm39)	critical splice donor site	probably null
R2014_Prl3b1_632	UTSW	13	27,431,948 (GRCm39)	missense	probably benign	0.00
R0716:Prl3b1	UTSW	13	27,427,779 (GRCm39)	missense	probably benign	0.02
R0758:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R0773:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R0774:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R0775:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R1364:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R1366:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R1367:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R1368:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R1530:Prl3b1	UTSW	13	27,427,848 (GRCm39)	missense	probably benign	0.00
R1884:Prl3b1	UTSW	13	27,431,886 (GRCm39)	missense	possibly damaging	0.95
R1990:Prl3b1	UTSW	13	27,429,775 (GRCm39)	missense	possibly damaging	0.94
R1991:Prl3b1	UTSW	13	27,431,895 (GRCm39)	missense	possibly damaging	0.60
R2014:Prl3b1	UTSW	13	27,431,948 (GRCm39)	missense	probably benign	0.00
R2885:Prl3b1	UTSW	13	27,433,505 (GRCm39)	missense	probably damaging	1.00
R4259:Prl3b1	UTSW	13	27,427,889 (GRCm39)	splice site	probably null
R4580:Prl3b1	UTSW	13	27,433,450 (GRCm39)	missense	possibly damaging	0.93
R4913:Prl3b1	UTSW	13	27,433,460 (GRCm39)	missense	probably damaging	0.99
R5897:Prl3b1	UTSW	13	27,429,858 (GRCm39)	missense	probably benign	0.08
R6235:Prl3b1	UTSW	13	27,431,928 (GRCm39)	missense	probably damaging	1.00
R6366:Prl3b1	UTSW	13	27,427,875 (GRCm39)	missense	probably benign	0.00
R7179:Prl3b1	UTSW	13	27,427,827 (GRCm39)	missense	probably benign	0.05
R7312:Prl3b1	UTSW	13	27,426,473 (GRCm39)	start codon destroyed	probably null	1.00
X0026:Prl3b1	UTSW	13	27,431,906 (GRCm39)	missense	probably benign	0.21
Z1177:Prl3b1	UTSW	13	27,427,742 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CGGAAGACCTTCTGAAAGTGTCC -3'
(R):5'- TACCCTGTTGAATACGATCTCC -3'

Sequencing Primer
(F):5'- GACCTTCTGAAAGTGTCCATCAC -3'
(R):5'- TGTTGAATACGATCTCCAGTCC -3'

Posted On

2018-06-22