Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Prl7a2'

551272

Institutional Source

Beutler Lab

Gene Symbol

Prl7a2

Ensembl Gene

ENSMUSG00000046899

Gene Name

prolactin family 7, subfamily a, member 2

Synonyms

PLP-F, Prlpf

MMRRC Submission

045199-MU

Accession Numbers

Essential gene?

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

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27658584-27668036 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27659093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 242 (D242E)

Ref Sequence

ENSEMBL: ENSMUSP00000006660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006660]

AlphaFold

O54831

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006660
AA Change: D242E

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006660
Gene: ENSMUSG00000046899
AA Change: D242E

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	244	6.9e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	A	13: 59,742,183	R608*	probably null	Het
4922502D21Rik	A	G	6: 129,322,952	C188R	probably damaging	Het
Abca8b	A	G	11: 109,976,473	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,578,142	E588G	probably benign	Het
Ahcy	G	A	2: 155,068,973	A25V	probably damaging	Het
Ank2	A	C	3: 127,003,982	L710R	probably damaging	Het
Ap1b1	A	G	11: 5,039,558	T824A	probably benign	Het
Arap2	T	A	5: 62,606,208	H1531L	probably damaging	Het
B3gnt7	T	C	1: 86,305,773	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,226,570	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,670,170	H301R	probably benign	Het
Casc3	T	A	11: 98,827,587	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,630,061	L63Q	probably damaging	Het
Cep250	A	G	2: 155,995,394	T2319A	probably benign	Het
Chd1	T	C	17: 15,761,366	S1356P	probably damaging	Het
Chd8	A	G	14: 52,212,672	S1542P	probably benign	Het
Cntnap4	A	G	8: 112,815,488	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,702,489	R90C	possibly damaging	Het
Defa21	G	A	8: 21,025,708	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,894,399	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dtx4	A	T	19: 12,473,260	C529*	probably null	Het
Entpd3	A	G	9: 120,560,599	Y317C	probably damaging	Het
Erp29	T	A	5: 121,445,318	I182F	possibly damaging	Het
Fam161a	A	G	11: 23,023,452	R445G	possibly damaging	Het
Fam214b	A	T	4: 43,036,434	V99E	probably benign	Het
Fam76a	T	A	4: 132,903,921	M238L	possibly damaging	Het
Fn1	T	C	1: 71,627,249	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,530,182		probably null	Het
Hspg2	T	C	4: 137,510,652	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,434,970	S59P	probably damaging	Het
Itpkc	C	A	7: 27,228,277	A71S	probably benign	Het
Kcnk10	G	A	12: 98,518,743	R45*	probably null	Het
Krcc1	A	G	6: 71,284,214	S77G	probably benign	Het
Lelp1	G	A	3: 92,135,514	T76I	unknown	Het
Lifr	A	T	15: 7,178,940	I600F	possibly damaging	Het
Lrrk1	T	A	7: 66,287,443	D987V	possibly damaging	Het
Mfsd7a	T	A	5: 108,448,715		probably null	Het
Muc16	C	T	9: 18,637,298	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo9a	A	G	9: 59,870,815	I1285V	probably benign	Het
Ndel1	T	C	11: 68,822,648	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,715,217	V449A	probably damaging	Het
Olfr1386	T	A	11: 49,470,434	Y94*	probably null	Het
Olfr1495	A	G	19: 13,769,161	E273G	probably benign	Het
Olfr195	A	C	16: 59,148,916	D22A	probably benign	Het
Olfr458	T	C	6: 42,460,554	N155S	possibly damaging	Het
Olfr639	A	T	7: 104,012,282	L140Q	probably benign	Het
Osbpl1a	G	A	18: 12,841,253	R459*	probably null	Het
Pabpc1l	A	C	2: 164,042,479	T379P	probably damaging	Het
Pde2a	A	T	7: 101,421,968	Q15L	probably benign	Het
Pdk1	A	G	2: 71,895,741	N331S	probably benign	Het
Pfdn1	A	T	18: 36,451,466		probably null	Het
Pnliprp1	T	A	19: 58,729,150	L9H	probably damaging	Het
Prmt9	T	A	8: 77,568,251	I408N	possibly damaging	Het
Psme4	G	A	11: 30,848,105	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,128,650	D393V	probably damaging	Het
Rab5b	A	G	10: 128,683,193		probably null	Het
Rap1gap2	G	A	11: 74,393,119	R618C	probably damaging	Het
Rin1	A	G	19: 5,050,773		probably benign	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Sdk1	A	G	5: 142,081,716	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,838,777	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,656,777	I189N	probably damaging	Het
Spsb2	A	T	6: 124,810,281	Q226L	probably benign	Het
Stab2	T	C	10: 86,905,592	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,070,150	R500H	probably benign	Het
Syne1	A	G	10: 5,132,078	Y849H	probably damaging	Het
Tbck	T	A	3: 132,722,331	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,624,204	F1984L	probably benign	Het
Tnxb	T	A	17: 34,671,340	V219E	unknown	Het
Tpst1	T	A	5: 130,114,503	V294D	probably damaging	Het
Treml1	A	G	17: 48,360,219	Q44R	probably damaging	Het
Trrap	G	A	5: 144,797,135	A933T	probably benign	Het
Vars2	A	G	17: 35,658,250	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,113,630	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,928,394	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,090,729	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,638,917	T179A	probably damaging	Het
Zmym2	A	G	14: 56,902,712	T3A	probably benign	Het

Other mutations in Prl7a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Prl7a2	APN	13	27659208	missense	probably damaging	0.98
IGL02424:Prl7a2	APN	13	27667970	missense	probably null	0.08
IGL02734:Prl7a2	APN	13	27659207	missense	probably benign	0.38
IGL02823:Prl7a2	APN	13	27662751	missense	possibly damaging	0.95
PIT4260001:Prl7a2	UTSW	13	27659276	nonsense	probably null
R0733:Prl7a2	UTSW	13	27662688	missense	probably damaging	1.00
R1371:Prl7a2	UTSW	13	27662767	missense	probably benign	0.01
R1778:Prl7a2	UTSW	13	27659271	missense	probably damaging	0.98
R1857:Prl7a2	UTSW	13	27659180	nonsense	probably null
R2063:Prl7a2	UTSW	13	27660887	missense	probably damaging	0.98
R2064:Prl7a2	UTSW	13	27660887	missense	probably damaging	0.98
R2065:Prl7a2	UTSW	13	27660887	missense	probably damaging	0.98
R2067:Prl7a2	UTSW	13	27660887	missense	probably damaging	0.98
R2068:Prl7a2	UTSW	13	27660887	missense	probably damaging	0.98
R2176:Prl7a2	UTSW	13	27659106	missense	probably benign	0.10
R2213:Prl7a2	UTSW	13	27665068	missense	probably benign	0.06
R4111:Prl7a2	UTSW	13	27665067	missense	possibly damaging	0.96
R4459:Prl7a2	UTSW	13	27665996	missense	probably benign	0.21
R4483:Prl7a2	UTSW	13	27660947	missense	possibly damaging	0.80
R4722:Prl7a2	UTSW	13	27660875	missense	probably damaging	1.00
R5360:Prl7a2	UTSW	13	27659160	missense	probably benign	0.22
R5778:Prl7a2	UTSW	13	27661000	nonsense	probably null
R6667:Prl7a2	UTSW	13	27661041	missense	probably benign	0.03
R7600:Prl7a2	UTSW	13	27659281	missense	possibly damaging	0.63
R8298:Prl7a2	UTSW	13	27661011	missense	probably benign	0.00
R8447:Prl7a2	UTSW	13	27665958	missense	possibly damaging	0.72
R9009:Prl7a2	UTSW	13	27666011	missense	probably damaging	1.00
R9331:Prl7a2	UTSW	13	27665079	missense	probably damaging	1.00
R9624:Prl7a2	UTSW	13	27665886	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTATCCCAATAGTCCCATC -3'
(R):5'- TGTCTGAAAGAAGGTTCACAGAC -3'

Sequencing Primer
(F):5'- ATTTGTCTGTCATTCCTCTTAAAGC -3'
(R):5'- GAAGGTTCACAGACTTATCACTTCTC -3'

Posted On

2019-05-15