Mutagenetix > Incidental Mutation

Incidental Mutation 'R4483:Prl7a2'

331503

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

041739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27658584-27668036 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27660947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 152 (H152L)

Ref Sequence

ENSEMBL: ENSMUSP00000006660 (fasta)

Gene Model

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

AlphaFold

O54831

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006660
AA Change: H152L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006660
Gene: ENSMUSG00000046899
AA Change: H152L

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,419,230	G5275S	probably benign	Het
Akap11	A	G	14: 78,510,259	S1563P	probably damaging	Het
Ankrd50	A	G	3: 38,457,531	V229A	probably damaging	Het
AW112010	A	G	19: 11,050,393		noncoding transcript	Het
Ccdc158	A	G	5: 92,633,328	S873P	probably benign	Het
Cep350	A	G	1: 155,926,468	V1104A	probably benign	Het
Chil4	G	A	3: 106,214,362	A57V	probably damaging	Het
Cpa5	A	G	6: 30,624,626	E155G	probably damaging	Het
Ctsq	T	C	13: 61,038,912	I93V	probably benign	Het
Dbi	A	T	1: 120,120,805	I37K	probably benign	Het
Defa35	T	C	8: 21,065,192	S43P	probably damaging	Het
Fance	T	A	17: 28,315,807		probably benign	Het
Fbxl6	A	G	15: 76,537,929	L180P	probably damaging	Het
Fkbpl	T	C	17: 34,646,295	F346L	probably damaging	Het
Gm11735	C	A	11: 116,741,275		noncoding transcript	Het
Gm28042	T	C	2: 120,035,840	I373T	possibly damaging	Het
Golga4	T	C	9: 118,514,186	S27P	probably damaging	Het
Gstm1	C	T	3: 108,016,518		probably null	Het
Lama3	T	A	18: 12,549,253	I1092K	probably benign	Het
Med15	A	T	16: 17,671,564		probably benign	Het
Nlrp6	A	G	7: 140,921,781	D87G	probably damaging	Het
Parp11	A	G	6: 127,471,605	T62A	probably benign	Het
Pcnt	A	G	10: 76,401,483	L1323S	probably damaging	Het
Ppp2r1a	C	T	17: 20,955,810	T98I	probably benign	Het
Pramef6	T	A	4: 143,895,840	Y315F	probably damaging	Het
Rnf145	T	C	11: 44,564,277	S662P	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Tnfaip3	A	T	10: 19,011,627	M50K	probably damaging	Het
Txlnb	T	TTA	10: 17,838,997		probably null	Het
Usp9x	A	G	X: 13,121,448	D638G	possibly damaging	Het
Vmn1r30	A	T	6: 58,435,133	V238E	probably damaging	Het
Zfp507	A	G	7: 35,787,716		probably null	Het
Zfp532	G	T	18: 65,656,565	W1025L	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
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
R7107:Prl7a2	UTSW	13	27659093	missense	possibly damaging	0.89
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'- CTGAGAATATCTACAAGTGAGATGC -3'
(R):5'- AGCAAATTCTTGGGCTCCC -3'

Sequencing Primer
(F):5'- GCTTCAAATTTTAATCTCTGTTGCAG -3'
(R):5'- GGGCTTGGAATGAAACTTC -3'

Posted On

2015-07-21