Mutagenetix > Incidental Mutations

Incidental Mutation 'R2098:Prl5a1'

230390

Institutional Source

Beutler Lab

Gene Symbol

Prl5a1

Ensembl Gene

ENSMUSG00000017064

Gene Name

prolactin family 5, subfamily a, member 1

Synonyms

D13Wsu14e, 1600013P04Rik, Prlpl, PLP-L

MMRRC Submission

040102-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2098 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28142484-28151611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28145505 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 56 (S56P)

Ref Sequence

ENSEMBL: ENSMUSP00000017208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017208]

Predicted Effect

probably damaging
Transcript: ENSMUST00000017208
AA Change: S56P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017208
Gene: ENSMUSG00000017064
AA Change: S56P

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	230	4.8e-50	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,036,579	E1316G	probably damaging	Het
Arhgap32	C	A	9: 32,259,911	T1329K	probably damaging	Het
Arhgef10l	G	C	4: 140,579,432	L104V	probably damaging	Het
Bend3	T	C	10: 43,510,504	S298P	probably damaging	Het
Cacna1b	C	T	2: 24,650,546	V1385M	probably damaging	Het
Camk2d	G	A	3: 126,780,442	G166D	probably damaging	Het
Cd84	G	A	1: 171,885,581	C291Y	probably benign	Het
Cdhr2	A	G	13: 54,715,644	I113V	probably benign	Het
Cfap206	G	A	4: 34,719,053	Q318*	probably null	Het
Chd9	C	T	8: 91,033,987	P2120L	probably benign	Het
Cyth1	T	A	11: 118,193,653	I25F	probably damaging	Het
D3Ertd254e	T	A	3: 36,166,140	S771T	probably benign	Het
Dock2	A	T	11: 34,266,279	N1208K	probably benign	Het
Dock2	A	G	11: 34,719,005	S203P	probably damaging	Het
Ehbp1l1	G	T	19: 5,708,658	T1652K	possibly damaging	Het
Eps8l2	G	A	7: 141,355,792		probably null	Het
Gm10250	A	G	15: 5,120,814		probably benign	Het
Gm9772	T	C	17: 22,006,637	H94R	probably benign	Het
Hspg2	G	A	4: 137,520,109	G1184D	probably damaging	Het
Igfn1	T	A	1: 135,978,305	D255V	probably damaging	Het
Marf1	T	C	16: 14,114,200	H1651R	probably benign	Het
Mllt10	T	C	2: 18,162,653	V385A	possibly damaging	Het
Mmp1b	G	A	9: 7,386,984	S76L	probably benign	Het
Mrps2	C	A	2: 28,468,315	T39K	probably benign	Het
Myo6	T	C	9: 80,281,526	Y715H	probably damaging	Het
Nsun7	A	G	5: 66,283,712	E392G	probably damaging	Het
Obscn	C	T	11: 59,069,991	E3374K	probably damaging	Het
Oit1	T	C	14: 8,361,479	I47V	probably benign	Het
Olfr1136	A	T	2: 87,693,729	M51K	probably benign	Het
Olfr1206	A	T	2: 88,864,871	I89F	probably benign	Het
Olfr434	G	A	6: 43,217,503	V197I	probably benign	Het
Olfr684	A	G	7: 105,157,271	V137A	probably benign	Het
Pkd2	C	T	5: 104,478,902	P317S	probably damaging	Het
Psmd1	A	G	1: 86,082,101		probably null	Het
Ptchd3	T	C	11: 121,842,479	C732R	probably damaging	Het
Rad51c	A	T	11: 87,402,763	V71E	probably benign	Het
Scn11a	A	T	9: 119,792,494	I619K	possibly damaging	Het
Sgpp1	T	G	12: 75,716,510	D299A	probably damaging	Het
Slc16a4	C	A	3: 107,300,847	Y224*	probably null	Het
Slc22a30	G	A	19: 8,400,811	S167L	probably damaging	Het
Slc6a5	T	C	7: 49,945,567	I559T	probably damaging	Het
Spire1	A	G	18: 67,503,466	F364L	probably damaging	Het
Srek1	G	A	13: 103,744,855	T421I	unknown	Het
St8sia4	T	C	1: 95,653,528	H163R	probably damaging	Het
Supt6	A	G	11: 78,213,261		probably null	Het
Tas2r103	T	C	6: 133,036,597	T169A	probably benign	Het
Thrap3	A	G	4: 126,180,030	S308P	probably damaging	Het
V1rd19	C	T	7: 24,003,735	L209F	probably damaging	Het

Other mutations in Prl5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Prl5a1	APN	13	28145439	missense	possibly damaging	0.77
IGL01820:Prl5a1	APN	13	28148700	missense	probably benign	0.34
IGL02682:Prl5a1	APN	13	28145420	missense	probably benign	0.32
R0266:Prl5a1	UTSW	13	28149987	missense	possibly damaging	0.77
R1022:Prl5a1	UTSW	13	28149897	missense	probably damaging	0.97
R1024:Prl5a1	UTSW	13	28149897	missense	probably damaging	0.97
R5467:Prl5a1	UTSW	13	28150011	missense	possibly damaging	0.92
R6002:Prl5a1	UTSW	13	28145482	missense	probably benign	0.00
R6026:Prl5a1	UTSW	13	28151264	missense	probably benign	0.43
R6242:Prl5a1	UTSW	13	28142555	nonsense	probably null
R6616:Prl5a1	UTSW	13	28149856	missense	probably benign	0.00
R6733:Prl5a1	UTSW	13	28149936	missense	possibly damaging	0.81
R6979:Prl5a1	UTSW	13	28151206	missense	probably benign	0.32
R7692:Prl5a1	UTSW	13	28150014	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACAGAGGACACGGTGGCT -3'
(R):5'- GCTTTCTTGAGCCTATGAATGTGTA -3'

Sequencing Primer
(F):5'- GCTAGACAGGGTTTCACTATACAGC -3'
(R):5'- AGCCTATGAATGTGTATTGTTTGG -3'

Posted On

2014-09-18