Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6065 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27601819-27610582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27604546 bp

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]

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: 103,842,252	S871P	probably damaging	Het
BC055324	A	T	1: 163,959,388	L704Q	probably benign	Het
BC055324	A	G	1: 163,987,688	M88T	probably damaging	Het
Ccdc150	T	C	1: 54,263,599	I126T	possibly damaging	Het
Ccdc87	A	T	19: 4,841,240	M587L	probably benign	Het
Cd300ld2	G	A	11: 115,012,602		probably benign	Het
Chsy3	GT	G	18: 59,176,166		probably null	Het
Dchs1	T	C	7: 105,755,421	D2638G	probably damaging	Het
Dnah5	A	T	15: 28,230,468	I171F	possibly damaging	Het
Dnah9	T	C	11: 65,855,338	D3983G	probably benign	Het
Dnah9	A	G	11: 66,145,397	S396P	possibly damaging	Het
Fbxw15	T	A	9: 109,568,178	D18V	probably damaging	Het
Fcnb	A	C	2: 28,079,910	C106G	probably damaging	Het
Gm3453	T	C	14: 5,978,233	T57A	probably damaging	Het
Grin2a	T	C	16: 9,761,907	D164G	possibly damaging	Het
Hmcn1	C	T	1: 150,770,330	V706I	probably benign	Het
Kcnj12	C	T	11: 61,069,877	L334F	probably damaging	Het
Lama3	T	C	18: 12,469,928	Y1057H	possibly damaging	Het
Mycbpap	T	C	11: 94,508,187		probably null	Het
Myo18b	A	G	5: 112,692,781	L2382P	probably benign	Het
Ngef	T	A	1: 87,477,648	N680I	probably damaging	Het
Nop2	A	G	6: 125,144,565	H770R	probably benign	Het
Pcdhgc3	A	G	18: 37,807,676	T377A	possibly damaging	Het
Ptprk	C	T	10: 28,475,170	T553I	probably damaging	Het
Rab3d	T	C	9: 21,910,519	T209A	probably benign	Het
Ralgapa1	A	G	12: 55,757,924		probably null	Het
Rspry1	T	C	8: 94,622,987	M1T	probably null	Het
Sec13	G	T	6: 113,730,832	P176T	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc4a7	C	A	14: 14,739,836	T236K	probably benign	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Syt2	A	G	1: 134,747,557	N382S	probably benign	Het
Tm7sf2	A	G	19: 6,063,386	M345T	possibly damaging	Het
Ubr4	T	G	4: 139,421,238	C1678G	probably damaging	Het
Urb1	A	G	16: 90,803,332	S188P	probably benign	Het
Vmn2r82	A	G	10: 79,385,376	S524G	probably damaging	Het
Wdr19	A	G	5: 65,221,713	N233S	probably benign	Het

Other mutations in Prl7b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Prl7b1	APN	13	27604590	missense	probably damaging	0.98
IGL01350:Prl7b1	APN	13	27602821	missense	probably damaging	1.00
IGL01602:Prl7b1	APN	13	27602044	missense	possibly damaging	0.70
IGL01605:Prl7b1	APN	13	27602044	missense	possibly damaging	0.70
IGL03106:Prl7b1	APN	13	27606935	missense	probably benign	0.17
IGL03401:Prl7b1	APN	13	27601981	missense	probably benign	0.02
fleshy	UTSW	13	27602895	splice site	probably null
R1169:Prl7b1	UTSW	13	27606904	missense	possibly damaging	0.81
R1423:Prl7b1	UTSW	13	27602127	missense	probably damaging	0.99
R1846:Prl7b1	UTSW	13	27602848	missense	probably damaging	1.00
R2294:Prl7b1	UTSW	13	27602871	missense	possibly damaging	0.93
R6049:Prl7b1	UTSW	13	27606178	missense	probably benign	0.03
R6324:Prl7b1	UTSW	13	27602895	splice site	probably null
R6870:Prl7b1	UTSW	13	27604533	missense	probably damaging	1.00
R7473:Prl7b1	UTSW	13	27602013	missense	possibly damaging	0.70
R7742:Prl7b1	UTSW	13	27607048	missense	probably benign	0.07

Predicted Primers

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

Posted On

2017-07-14