Mutagenetix > Incidental Mutation

Incidental Mutation 'R6065:Prl7b1'

484016

Institutional Source

Beutler Lab

Gene Symbol

Prl7b1

Ensembl Gene

ENSMUSG00000021347

Gene Name

prolactin family 7, subfamily b, member 1

Synonyms

PLP-N, Prlpn, 1600014J19Rik

MMRRC Submission

044229-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6065 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27785802-27794565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27788529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 109 (K109E)

Ref Sequence

ENSEMBL: ENSMUSP00000079431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080595]

AlphaFold

Q8CGZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000080595
AA Change: K109E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079431
Gene: ENSMUSG00000021347
AA Change: K109E

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	241	3.1e-60	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced fetal growth and survival following exposure of dams to low oxygen conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	T	C	5: 103,990,118 (GRCm39)	S871P	probably damaging	Het
Ccdc150	T	C	1: 54,302,758 (GRCm39)	I126T	possibly damaging	Het
Ccdc87	A	T	19: 4,891,268 (GRCm39)	M587L	probably benign	Het
Cd300ld2	G	A	11: 114,903,428 (GRCm39)		probably benign	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Dchs1	T	C	7: 105,404,628 (GRCm39)	D2638G	probably damaging	Het
Dnah5	A	T	15: 28,230,614 (GRCm39)	I171F	possibly damaging	Het
Dnah9	T	C	11: 65,746,164 (GRCm39)	D3983G	probably benign	Het
Dnah9	A	G	11: 66,036,223 (GRCm39)	S396P	possibly damaging	Het
Fbxw15	T	A	9: 109,397,246 (GRCm39)	D18V	probably damaging	Het
Fcnb	A	C	2: 27,969,922 (GRCm39)	C106G	probably damaging	Het
Firrm	A	T	1: 163,786,957 (GRCm39)	L704Q	probably benign	Het
Firrm	A	G	1: 163,815,257 (GRCm39)	M88T	probably damaging	Het
Gm3453	T	C	14: 5,978,233 (GRCm38)	T57A	probably damaging	Het
Grin2a	T	C	16: 9,579,771 (GRCm39)	D164G	possibly damaging	Het
Hmcn1	C	T	1: 150,646,081 (GRCm39)	V706I	probably benign	Het
Kcnj12	C	T	11: 60,960,703 (GRCm39)	L334F	probably damaging	Het
Lama3	T	C	18: 12,602,985 (GRCm39)	Y1057H	possibly damaging	Het
Mycbpap	T	C	11: 94,399,013 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,840,647 (GRCm39)	L2382P	probably benign	Het
Ngef	T	A	1: 87,405,370 (GRCm39)	N680I	probably damaging	Het
Nop2	A	G	6: 125,121,528 (GRCm39)	H770R	probably benign	Het
Pcdhgc3	A	G	18: 37,940,729 (GRCm39)	T377A	possibly damaging	Het
Ptprk	C	T	10: 28,351,166 (GRCm39)	T553I	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Ralgapa1	A	G	12: 55,804,709 (GRCm39)		probably null	Het
Rspry1	T	C	8: 95,349,615 (GRCm39)	M1T	probably null	Het
Sec13	G	T	6: 113,707,793 (GRCm39)	P176T	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc4a7	C	A	14: 14,739,836 (GRCm38)	T236K	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Syt2	A	G	1: 134,675,295 (GRCm39)	N382S	probably benign	Het
Tm7sf2	A	G	19: 6,113,416 (GRCm39)	M345T	possibly damaging	Het
Ubr4	T	G	4: 139,148,549 (GRCm39)	C1678G	probably damaging	Het
Urb1	A	G	16: 90,600,220 (GRCm39)	S188P	probably benign	Het
Vmn2r82	A	G	10: 79,221,210 (GRCm39)	S524G	probably damaging	Het
Wdr19	A	G	5: 65,379,056 (GRCm39)	N233S	probably benign	Het

Other mutations in Prl7b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Prl7b1	APN	13	27,788,573 (GRCm39)	missense	probably damaging	0.98
IGL01350:Prl7b1	APN	13	27,786,804 (GRCm39)	missense	probably damaging	1.00
IGL01602:Prl7b1	APN	13	27,786,027 (GRCm39)	missense	possibly damaging	0.70
IGL01605:Prl7b1	APN	13	27,786,027 (GRCm39)	missense	possibly damaging	0.70
IGL03106:Prl7b1	APN	13	27,790,918 (GRCm39)	missense	probably benign	0.17
IGL03401:Prl7b1	APN	13	27,785,964 (GRCm39)	missense	probably benign	0.02
fleshy	UTSW	13	27,786,878 (GRCm39)	splice site	probably null
G1Funyon:Prl7b1	UTSW	13	27,786,755 (GRCm39)	missense	possibly damaging	0.69
R1169:Prl7b1	UTSW	13	27,790,887 (GRCm39)	missense	possibly damaging	0.81
R1423:Prl7b1	UTSW	13	27,786,110 (GRCm39)	missense	probably damaging	0.99
R1846:Prl7b1	UTSW	13	27,786,831 (GRCm39)	missense	probably damaging	1.00
R2294:Prl7b1	UTSW	13	27,786,854 (GRCm39)	missense	possibly damaging	0.93
R6049:Prl7b1	UTSW	13	27,790,161 (GRCm39)	missense	probably benign	0.03
R6324:Prl7b1	UTSW	13	27,786,878 (GRCm39)	splice site	probably null
R6870:Prl7b1	UTSW	13	27,788,516 (GRCm39)	missense	probably damaging	1.00
R7473:Prl7b1	UTSW	13	27,785,996 (GRCm39)	missense	possibly damaging	0.70
R7742:Prl7b1	UTSW	13	27,791,031 (GRCm39)	missense	probably benign	0.07
R8301:Prl7b1	UTSW	13	27,786,755 (GRCm39)	missense	possibly damaging	0.69
R9131:Prl7b1	UTSW	13	27,790,968 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGTGTTCTCATCTAAATG -3'
(R):5'- GCCTCAAATGTAACACAAAGATGG -3'

Posted On

2017-07-14