Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Prl7a1'

490066

Institutional Source

Beutler Lab

Gene Symbol

Prl7a1

Ensembl Gene

ENSMUSG00000006488

Gene Name

prolactin family 7, subfamily a, member 1

Synonyms

Prlpe, Prlpg, PLP-G, PLP-E

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27817349-27826476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27821626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 102 (Q102H)

Ref Sequence

ENSEMBL: ENSMUSP00000153047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006659] [ENSMUST00000095924] [ENSMUST00000224852]

AlphaFold

O54830

Predicted Effect

probably benign
Transcript: ENSMUST00000006659
AA Change: Q102H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006659
Gene: ENSMUSG00000006488
AA Change: Q102H

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	82	9.9e-8	PFAM
Pfam:Hormone_1	82	256	2.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095924
AA Change: Q103H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093614
Gene: ENSMUSG00000006488
AA Change: Q103H

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	257	7.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224852
AA Change: Q102H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	A	G	7: 79,491,953 (GRCm39)	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,066,240 (GRCm39)		probably benign	Het
Atp1a2	T	C	1: 172,106,459 (GRCm39)	S848G	probably damaging	Het
Bche	T	A	3: 73,608,389 (GRCm39)	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,713,645 (GRCm39)	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,919,642 (GRCm39)	M416V	probably damaging	Het
Cdk17	T	C	10: 93,071,331 (GRCm39)	S351P	probably benign	Het
Cfap100	T	C	6: 90,392,768 (GRCm39)	E114G	probably benign	Het
Clec4a4	T	C	6: 122,968,833 (GRCm39)	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,870,584 (GRCm39)		probably null	Het
Cybrd1	T	C	2: 70,948,618 (GRCm39)	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347 (GRCm39)	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,489 (GRCm39)	I2942L	probably benign	Het
Ehd4	C	T	2: 119,932,689 (GRCm39)	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 64,020,158 (GRCm39)		probably benign	Het
Exoc4	T	A	6: 33,309,218 (GRCm39)	M280K	probably damaging	Het
Fmo1	T	G	1: 162,678,979 (GRCm39)	E89A	probably benign	Het
Foxm1	A	G	6: 128,350,898 (GRCm39)	D733G	probably benign	Het
Garin5b	T	C	7: 4,773,677 (GRCm39)	T73A	probably damaging	Het
Gulp1	A	C	1: 44,793,511 (GRCm39)	R57S	probably damaging	Het
Hdac1-ps	T	C	17: 78,799,716 (GRCm39)	S236P	probably damaging	Het
Hdac4	G	T	1: 91,957,876 (GRCm39)	A46E	probably benign	Het
Hspg2	T	C	4: 137,241,966 (GRCm39)	S567P	possibly damaging	Het
Insyn1	C	A	9: 58,406,530 (GRCm39)	P147T	probably damaging	Het
Iqgap1	A	C	7: 80,458,854 (GRCm39)	C21W	unknown	Het
Isoc2a	T	C	7: 4,894,488 (GRCm39)	L57P	probably damaging	Het
Krt34	G	A	11: 99,929,272 (GRCm39)	Q313*	probably null	Het
Krt6a	C	T	15: 101,601,008 (GRCm39)	V263I	probably damaging	Het
Man2a1	A	G	17: 65,040,719 (GRCm39)	I106V	possibly damaging	Het
Muc16	T	C	9: 18,469,675 (GRCm39)	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,417,082 (GRCm39)	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,618,239 (GRCm39)	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,075,754 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,095,507 (GRCm39)	L795P	probably damaging	Het
Nup160	T	A	2: 90,548,220 (GRCm39)	Y984*	probably null	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or2d3	G	T	7: 106,491,135 (GRCm39)	Y60*	probably null	Het
Or5p52	A	G	7: 107,502,595 (GRCm39)	T224A	probably benign	Het
Osmr	A	G	15: 6,889,833 (GRCm39)	V5A	probably benign	Het
Pabir1	T	A	19: 24,454,450 (GRCm39)	M91L	probably benign	Het
Pcsk5	A	G	19: 17,814,317 (GRCm39)		probably null	Het
Pex11a	G	A	7: 79,387,127 (GRCm39)	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,442,799 (GRCm39)	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715 (GRCm39)		probably benign	Het
Ppp2r2d	T	C	7: 138,474,742 (GRCm39)	I41T	probably damaging	Het
Prdm1	C	T	10: 44,326,191 (GRCm39)	R126H	probably damaging	Het
Primpol	C	T	8: 47,039,477 (GRCm39)	R381H	probably benign	Het
Rbpjl	T	C	2: 164,252,799 (GRCm39)	L284P	probably damaging	Het
Rgs21	A	T	1: 144,417,035 (GRCm39)	C6S	probably benign	Het
Rnasel	T	C	1: 153,630,138 (GRCm39)	V218A	probably benign	Het
Sag	G	T	1: 87,752,175 (GRCm39)	V223L	probably damaging	Het
Sdk1	C	T	5: 142,117,824 (GRCm39)	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,833,896 (GRCm39)	V679M	probably damaging	Het
Sele	T	A	1: 163,879,386 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,990,117 (GRCm39)	L622M	probably damaging	Het
Sgo1	G	A	17: 53,983,981 (GRCm39)	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,863,590 (GRCm39)	V866L	probably benign	Het
Snrnp25	T	A	11: 32,157,647 (GRCm39)	V75D	probably benign	Het
Syne1	C	T	10: 5,011,429 (GRCm39)	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,264,007 (GRCm39)	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,903,040 (GRCm39)	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,008,329 (GRCm39)	R235*	probably null	Het
Wnk4	C	T	11: 101,165,894 (GRCm39)	A807V	possibly damaging	Het

Other mutations in Prl7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Prl7a1	APN	13	27,824,778 (GRCm39)	missense	probably damaging	0.97
IGL02862:Prl7a1	APN	13	27,823,872 (GRCm39)	missense	probably benign	0.05
R0841:Prl7a1	UTSW	13	27,826,393 (GRCm39)	splice site	probably benign
R1005:Prl7a1	UTSW	13	27,826,429 (GRCm39)	missense	possibly damaging	0.75
R1641:Prl7a1	UTSW	13	27,817,612 (GRCm39)	missense	probably damaging	1.00
R1991:Prl7a1	UTSW	13	27,817,655 (GRCm39)	missense	probably damaging	0.96
R2233:Prl7a1	UTSW	13	27,826,402 (GRCm39)	critical splice donor site	probably null
R4061:Prl7a1	UTSW	13	27,819,832 (GRCm39)	missense	possibly damaging	0.83
R4239:Prl7a1	UTSW	13	27,821,549 (GRCm39)	missense	possibly damaging	0.92
R4817:Prl7a1	UTSW	13	27,819,747 (GRCm39)	missense	probably damaging	0.99
R4976:Prl7a1	UTSW	13	27,817,564 (GRCm39)	missense	possibly damaging	0.52
R4992:Prl7a1	UTSW	13	27,819,669 (GRCm39)	splice site	probably null
R5119:Prl7a1	UTSW	13	27,817,564 (GRCm39)	missense	possibly damaging	0.52
R5857:Prl7a1	UTSW	13	27,824,684 (GRCm39)	missense	probably damaging	0.99
R6060:Prl7a1	UTSW	13	27,821,571 (GRCm39)	missense	probably damaging	1.00
R6581:Prl7a1	UTSW	13	27,817,612 (GRCm39)	missense	probably damaging	1.00
R7126:Prl7a1	UTSW	13	27,826,402 (GRCm39)	critical splice donor site	probably null
R7892:Prl7a1	UTSW	13	27,817,661 (GRCm39)	missense	not run
R7908:Prl7a1	UTSW	13	27,826,433 (GRCm39)	start codon destroyed	probably null	0.91
R8376:Prl7a1	UTSW	13	27,821,638 (GRCm39)	missense	probably benign	0.00
R8771:Prl7a1	UTSW	13	27,819,811 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-10-10