Mutagenetix > Incidental Mutation

Incidental Mutation 'R3969:Prl2a1'

310892

Institutional Source

Beutler Lab

Gene Symbol

Prl2a1

Ensembl Gene

ENSMUSG00000022886

Gene Name

prolactin family 2, subfamily a, member 1

Synonyms

PLP-M, Prlpm

MMRRC Submission

040937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27985638-27992699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27990263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 71 (S71G)

Ref Sequence

ENSEMBL: ENSMUSP00000023602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023602]

AlphaFold

Q9JHK0

Predicted Effect

probably benign
Transcript: ENSMUST00000023602
AA Change: S71G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023602
Gene: ENSMUSG00000022886
AA Change: S71G

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	228	6.1e-67	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,835,846 (GRCm39)	K60E	probably damaging	Het
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Camk2d	G	T	3: 126,590,608 (GRCm39)	C273F	possibly damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Chia1	T	G	3: 106,028,951 (GRCm39)		probably null	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cpeb4	T	C	11: 31,822,811 (GRCm39)	I175T	possibly damaging	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Faap100	A	T	11: 120,269,531 (GRCm39)	M1K	probably null	Het
Flna	A	T	X: 73,279,273 (GRCm39)	V1253E	probably damaging	Het
Fryl	A	T	5: 73,269,766 (GRCm39)	S396R	probably damaging	Het
Gm12185	A	T	11: 48,798,172 (GRCm39)	C774S	probably benign	Het
Habp2	A	G	19: 56,300,133 (GRCm39)	Y194C	probably damaging	Het
Insyn2b	A	T	11: 34,369,739 (GRCm39)	Q481L	probably damaging	Het
Irf5	A	T	6: 29,536,781 (GRCm39)	Q497H	probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Lins1	C	T	7: 66,357,946 (GRCm39)	T27I	probably benign	Het
Ncstn	A	C	1: 171,897,576 (GRCm39)	V439G	probably damaging	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Nol8	A	T	13: 49,813,492 (GRCm39)	K162*	probably null	Het
Or7g21	A	G	9: 19,032,956 (GRCm39)	E232G	probably benign	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pole3	G	T	4: 62,443,198 (GRCm39)	N12K	possibly damaging	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Rb1cc1	T	A	1: 6,318,494 (GRCm39)		probably benign	Het
Shroom3	T	C	5: 93,088,738 (GRCm39)	V496A	probably benign	Het
Slc26a1	A	G	5: 108,821,818 (GRCm39)	S24P	probably benign	Het
Tspoap1	A	T	11: 87,653,272 (GRCm39)	N113Y	probably damaging	Het
Usp17lc	A	T	7: 103,067,626 (GRCm39)	H307L	probably damaging	Het
Vmn2r79	T	C	7: 86,652,801 (GRCm39)	W498R	probably damaging	Het
Vmn2r94	C	A	17: 18,478,647 (GRCm39)	Q33H	possibly damaging	Het
Wwc2	T	C	8: 48,309,358 (GRCm39)	D808G	unknown	Het
Ybx2	G	A	11: 69,831,242 (GRCm39)	R84Q	probably damaging	Het
Zfp462	C	T	4: 55,012,402 (GRCm39)	S308F	probably damaging	Het

Other mutations in Prl2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Prl2a1	APN	13	27,992,436 (GRCm39)	missense	probably damaging	1.00
IGL01977:Prl2a1	APN	13	27,990,261 (GRCm39)	missense	probably damaging	0.96
IGL02243:Prl2a1	APN	13	27,991,400 (GRCm39)	splice site	probably benign
IGL02666:Prl2a1	APN	13	27,990,310 (GRCm39)	missense	possibly damaging	0.84
IGL02950:Prl2a1	APN	13	27,988,914 (GRCm39)	missense	probably damaging	1.00
IGL03390:Prl2a1	APN	13	27,985,699 (GRCm39)	missense	probably benign	0.00
R1795:Prl2a1	UTSW	13	27,992,554 (GRCm39)	missense	probably damaging	1.00
R1867:Prl2a1	UTSW	13	27,988,923 (GRCm39)	missense	probably damaging	1.00
R1868:Prl2a1	UTSW	13	27,988,923 (GRCm39)	missense	probably damaging	1.00
R2221:Prl2a1	UTSW	13	27,990,369 (GRCm39)	critical splice donor site	probably null
R4772:Prl2a1	UTSW	13	27,988,961 (GRCm39)	missense	probably benign	0.02
R5604:Prl2a1	UTSW	13	27,990,369 (GRCm39)	critical splice donor site	probably benign
R7292:Prl2a1	UTSW	13	27,991,353 (GRCm39)	splice site	probably null
R9110:Prl2a1	UTSW	13	27,992,398 (GRCm39)	missense	probably benign	0.03
R9193:Prl2a1	UTSW	13	27,992,535 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGTTCCAAGGTATTTTCAAG -3'
(R):5'- GCATTGTGAGAGGATCTTCTGC -3'

Sequencing Primer
(F):5'- TTTCAAGAAAACTGTGTAGGATGG -3'
(R):5'- TGAGAGGATCTTCTGCATGATTG -3'

Posted On

2015-04-29