Mutagenetix > Incidental Mutation

Incidental Mutation 'R6616:Prl5a1'

524087

Institutional Source

Beutler Lab

Gene Symbol

Prl5a1

Ensembl Gene

ENSMUSG00000017064

Gene Name

prolactin family 5, subfamily a, member 1

Synonyms

1600013P04Rik, D13Wsu14e, Prlpl, PLP-L

MMRRC Submission

044739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6616 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28326467-28335578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28333839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 114 (T114I)

Ref Sequence

ENSEMBL: ENSMUSP00000017208 (fasta)

Gene Model

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

AlphaFold

Q9JII2

Predicted Effect

probably benign
Transcript: ENSMUST00000017208
AA Change: T114I

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

SMART Domains

Protein: ENSMUSP00000017208
Gene: ENSMUSG00000017064
AA Change: T114I

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,603,509 (GRCm39)	H567L	probably damaging	Het
Adck1	T	A	12: 88,427,958 (GRCm39)	M525K	unknown	Het
Alpi	T	C	1: 87,028,836 (GRCm39)	I74V	possibly damaging	Het
Ccdc168	C	A	1: 44,100,634 (GRCm39)	V155L	possibly damaging	Het
Creb5	A	C	6: 53,662,295 (GRCm39)	Q197H	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,306 (GRCm39)	K225R	probably benign	Het
Dock1	G	A	7: 134,710,221 (GRCm39)	E1143K	possibly damaging	Het
Eef2kmt	T	A	16: 5,065,346 (GRCm39)	D287V	probably damaging	Het
Eif2ak4	T	A	2: 118,285,326 (GRCm39)	Y1046*	probably null	Het
Fbxw10	T	A	11: 62,743,850 (GRCm39)	M252K	probably benign	Het
Fnip2	A	C	3: 79,388,189 (GRCm39)	H847Q	probably benign	Het
Frmd3	A	T	4: 74,105,725 (GRCm39)	D457V	probably damaging	Het
Gm13941	T	G	2: 110,931,520 (GRCm39)	E37D	unknown	Het
Grin1	T	A	2: 25,182,122 (GRCm39)	I870F	possibly damaging	Het
Grin2b	A	C	6: 135,709,549 (GRCm39)	D1332E	probably benign	Het
Gtpbp4	G	A	13: 9,039,141 (GRCm39)	T201I	possibly damaging	Het
Heatr4	A	G	12: 84,026,904 (GRCm39)	C118R	probably benign	Het
Hltf	T	A	3: 20,163,651 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,599,008 (GRCm39)		probably null	Het
Hpd	A	T	5: 123,310,123 (GRCm39)	L367Q	probably damaging	Het
Htr1b	A	G	9: 81,514,487 (GRCm39)	I40T	probably benign	Het
Il16	A	G	7: 83,295,684 (GRCm39)	S464P	probably benign	Het
Lrp1b	T	A	2: 40,589,643 (GRCm39)	D75V	unknown	Het
Map3k4	A	T	17: 12,490,231 (GRCm39)	L400Q	probably damaging	Het
Mcts2	T	A	2: 152,529,582 (GRCm39)	I131N	possibly damaging	Het
Mroh2b	A	C	15: 4,982,764 (GRCm39)	I1528L	probably benign	Het
Muc4	A	C	16: 32,602,378 (GRCm39)	D3467A	possibly damaging	Het
Mypn	A	T	10: 63,005,091 (GRCm39)	C339S	probably damaging	Het
Ncoa5	A	T	2: 164,852,483 (GRCm39)	Y130*	probably null	Het
Or11g27	T	A	14: 50,771,364 (GRCm39)	I165N	probably benign	Het
Or2y11	T	A	11: 49,442,868 (GRCm39)	V98E	probably damaging	Het
Pcdha4	A	G	18: 37,086,953 (GRCm39)	T379A	probably benign	Het
Pkp4	C	G	2: 59,180,896 (GRCm39)	Y720*	probably null	Het
Rnd3	A	G	2: 51,024,169 (GRCm39)	S137P	probably damaging	Het
Rtel1	G	A	2: 180,994,579 (GRCm39)	E680K	possibly damaging	Het
Sbsn	T	A	7: 30,452,704 (GRCm39)	V573D	possibly damaging	Het
Scaf8	A	T	17: 3,218,330 (GRCm39)	L233F	unknown	Het
Sec23a	A	T	12: 59,043,941 (GRCm39)	I241K	possibly damaging	Het
Secisbp2l	A	T	2: 125,610,146 (GRCm39)	S258T	probably damaging	Het
Skint4	A	G	4: 111,975,427 (GRCm39)	H121R	possibly damaging	Het
Sptbn1	T	A	11: 30,074,030 (GRCm39)	E1346D	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stpg4	A	G	17: 87,730,124 (GRCm39)	Y74H	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmc4	A	G	7: 3,674,057 (GRCm39)	V374A	possibly damaging	Het
Unc45b	G	A	11: 82,802,645 (GRCm39)	R47Q	probably damaging	Het
Xirp1	A	G	9: 119,848,080 (GRCm39)	S268P	probably damaging	Het
Zfp990	A	T	4: 145,263,715 (GRCm39)	I238L	probably benign	Het
Zswim5	A	G	4: 116,843,938 (GRCm39)	D992G	possibly damaging	Het

Other mutations in Prl5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Prl5a1	APN	13	28,329,422 (GRCm39)	missense	possibly damaging	0.77
IGL01820:Prl5a1	APN	13	28,332,683 (GRCm39)	missense	probably benign	0.34
IGL02682:Prl5a1	APN	13	28,329,403 (GRCm39)	missense	probably benign	0.32
R0266:Prl5a1	UTSW	13	28,333,970 (GRCm39)	missense	possibly damaging	0.77
R1022:Prl5a1	UTSW	13	28,333,880 (GRCm39)	missense	probably damaging	0.97
R1024:Prl5a1	UTSW	13	28,333,880 (GRCm39)	missense	probably damaging	0.97
R2098:Prl5a1	UTSW	13	28,329,488 (GRCm39)	missense	probably damaging	1.00
R5467:Prl5a1	UTSW	13	28,333,994 (GRCm39)	missense	possibly damaging	0.92
R6002:Prl5a1	UTSW	13	28,329,465 (GRCm39)	missense	probably benign	0.00
R6026:Prl5a1	UTSW	13	28,335,247 (GRCm39)	missense	probably benign	0.43
R6242:Prl5a1	UTSW	13	28,326,538 (GRCm39)	nonsense	probably null
R6733:Prl5a1	UTSW	13	28,333,919 (GRCm39)	missense	possibly damaging	0.81
R6979:Prl5a1	UTSW	13	28,335,189 (GRCm39)	missense	probably benign	0.32
R7692:Prl5a1	UTSW	13	28,333,997 (GRCm39)	missense	probably damaging	1.00
R9610:Prl5a1	UTSW	13	28,329,492 (GRCm39)	missense	possibly damaging	0.71
R9611:Prl5a1	UTSW	13	28,329,492 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCTAGGAACATAGCAATTGTAAAGC -3'
(R):5'- AAAGAGACCACTTACCTGGC -3'

Sequencing Primer
(F):5'- TAAGATCTGCTCCATGGCTAGAC -3'
(R):5'- GACCACTTACCTGGCTGAGTATAG -3'

Posted On

2018-06-22