Mutagenetix > Incidental Mutation

Incidental Mutation 'R1520:Preb'

167357

Institutional Source

Beutler Lab

Gene Symbol

Preb

Ensembl Gene

ENSMUSG00000045302

Gene Name

prolactin regulatory element binding

Synonyms

MMRRC Submission

039564-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R1520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31109011-31117700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31115868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 192 (F192L)

Ref Sequence

ENSEMBL: ENSMUSP00000144263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074840] [ENSMUST00000202567]

AlphaFold

Q9WUQ2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000006814

SMART Domains

Protein: ENSMUSP00000143649
Gene: ENSMUSG00000006638

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Hydrolase_4	127	371	1.3e-9	PFAM
Pfam:Abhydrolase_1	131	373	1.4e-12	PFAM
Pfam:Abhydrolase_5	132	367	2.8e-8	PFAM
Pfam:Abhydrolase_6	133	377	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074840
AA Change: F192L

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: F192L

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	99	114	N/A	INTRINSIC
WD40	143	182	4.48e-2	SMART
WD40	185	223	4.88e-3	SMART
WD40	289	328	4.42e1	SMART
Blast:WD40	332	382	5e-26	BLAST
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200836

Predicted Effect

unknown
Transcript: ENSMUST00000201002
AA Change: F18L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201214

Predicted Effect

probably benign
Transcript: ENSMUST00000202567
AA Change: F192L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
AA Change: F192L

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	99	114	N/A	INTRINSIC
WD40	143	182	4.48e-2	SMART
WD40	185	223	4.88e-3	SMART
WD40	289	328	4.42e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202013

Predicted Effect

probably benign
Transcript: ENSMUST00000201821

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,844,664 (GRCm39)	N1491S	possibly damaging	Het
Abcb1b	G	A	5: 8,864,768 (GRCm39)	A249T	probably damaging	Het
Acacb	A	G	5: 114,340,001 (GRCm39)	D804G	possibly damaging	Het
Agpat3	A	T	10: 78,123,857 (GRCm39)	M1K	probably null	Het
Akr1c12	A	C	13: 4,326,298 (GRCm39)	I61R	probably damaging	Het
Antxr2	G	A	5: 98,108,551 (GRCm39)	A320V	probably benign	Het
Aoc1l2	T	A	6: 48,908,231 (GRCm39)	Y410*	probably null	Het
Arhgef1	A	G	7: 24,619,129 (GRCm39)	R454G	probably damaging	Het
C1ql4	T	C	15: 98,985,548 (GRCm39)	H21R	probably benign	Het
Celsr3	T	C	9: 108,725,857 (GRCm39)	S3029P	probably damaging	Het
Chaf1a	T	C	17: 56,354,302 (GRCm39)	C191R	unknown	Het
Corin	A	C	5: 72,488,238 (GRCm39)	C627G	probably damaging	Het
Cyp3a11	T	C	5: 145,799,263 (GRCm39)	Y308C	probably damaging	Het
Cyp4a32	A	G	4: 115,471,849 (GRCm39)	N420S	probably damaging	Het
Eftud2	A	G	11: 102,730,266 (GRCm39)	S889P	probably damaging	Het
Eng	A	G	2: 32,562,953 (GRCm39)	H267R	probably benign	Het
Ep400	A	G	5: 110,839,644 (GRCm39)		probably benign	Het
Fmo9	G	T	1: 166,495,024 (GRCm39)	H292Q	probably benign	Het
Frmpd4	T	C	X: 166,275,949 (GRCm39)	S373G	probably damaging	Het
Fsip2	T	A	2: 82,811,058 (GRCm39)	I2459K	possibly damaging	Het
Gbp5	A	T	3: 142,213,775 (GRCm39)	H523L	probably damaging	Het
Gpr65	T	C	12: 98,241,434 (GRCm39)	V29A	probably benign	Het
Igkv7-33	T	A	6: 70,036,132 (GRCm39)		probably benign	Het
Iqcc	G	A	4: 129,510,762 (GRCm39)	T251I	possibly damaging	Het
Jund	A	G	8: 71,151,923 (GRCm39)	T73A	probably benign	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Mcm8	T	C	2: 132,681,375 (GRCm39)	V617A	probably benign	Het
Mdga1	A	G	17: 30,065,493 (GRCm39)	F646L	probably benign	Het
Morc3	A	G	16: 93,641,129 (GRCm39)	K54E	probably damaging	Het
Mutyh	T	C	4: 116,674,749 (GRCm39)	L357P	probably damaging	Het
Mylk4	T	C	13: 32,896,821 (GRCm39)		probably null	Het
Or4k41	G	A	2: 111,279,619 (GRCm39)	V45I	probably benign	Het
Osbpl3	T	A	6: 50,323,411 (GRCm39)	D224V	possibly damaging	Het
Parp4	T	C	14: 56,835,863 (GRCm39)	I469T	probably damaging	Het
Pkd1l2	A	G	8: 117,772,898 (GRCm39)	V1043A	probably benign	Het
Plod3	A	G	5: 137,020,165 (GRCm39)	N460S	probably damaging	Het
Prkra	T	C	2: 76,469,622 (GRCm39)	T146A	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rag2	T	C	2: 101,460,476 (GRCm39)	I262T	probably damaging	Het
Rgr	A	G	14: 36,766,672 (GRCm39)	W125R	probably damaging	Het
Rit1	T	A	3: 88,636,620 (GRCm39)	F211I	probably benign	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Serinc2	C	T	4: 130,154,543 (GRCm39)	V234I	probably benign	Het
Srp54b	T	C	12: 55,304,354 (GRCm39)	M434T	possibly damaging	Het
Srrt	C	A	5: 137,297,028 (GRCm39)	R69L	probably damaging	Het
Sv2b	A	G	7: 74,807,077 (GRCm39)	L191P	probably damaging	Het
Tcf12	C	A	9: 71,790,388 (GRCm39)		probably null	Het
Tmem273	A	T	14: 32,527,083 (GRCm39)		probably benign	Het
Tmem87b	T	C	2: 128,681,176 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,647,392 (GRCm39)	E11031G	possibly damaging	Het
Uaca	A	T	9: 60,778,663 (GRCm39)	T1017S	probably benign	Het
Urb1	C	A	16: 90,571,633 (GRCm39)	V1059L	probably benign	Het
V1rd19	G	A	7: 23,702,623 (GRCm39)	A30T	probably damaging	Het
Vldlr	C	T	19: 27,217,943 (GRCm39)	L91F	probably damaging	Het
Vldlr	G	T	19: 27,224,466 (GRCm39)	A770S	possibly damaging	Het
Vmn2r80	A	G	10: 79,030,594 (GRCm39)	T807A	probably damaging	Het
Wwox	C	T	8: 115,438,873 (GRCm39)	P313L	probably benign	Het
Zap70	T	C	1: 36,810,036 (GRCm39)	S49P	probably damaging	Het
Zfp317	A	G	9: 19,559,144 (GRCm39)	I453V	possibly damaging	Het

Other mutations in Preb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Preb	APN	5	31,113,308 (GRCm39)	missense	probably damaging	1.00
IGL01344:Preb	APN	5	31,113,388 (GRCm39)	missense	probably damaging	0.99
IGL03383:Preb	APN	5	31,115,665 (GRCm39)	missense	probably damaging	1.00
R1987:Preb	UTSW	5	31,116,157 (GRCm39)	missense	probably damaging	1.00
R2327:Preb	UTSW	5	31,115,849 (GRCm39)	missense	probably damaging	0.99
R5607:Preb	UTSW	5	31,117,307 (GRCm39)	splice site	probably benign
R5769:Preb	UTSW	5	31,115,635 (GRCm39)	nonsense	probably null
R5831:Preb	UTSW	5	31,116,208 (GRCm39)	missense	probably benign
R6271:Preb	UTSW	5	31,115,395 (GRCm39)	missense	probably damaging	0.99
R6539:Preb	UTSW	5	31,113,420 (GRCm39)	missense	probably benign	0.03
R7575:Preb	UTSW	5	31,115,839 (GRCm39)	missense	probably damaging	1.00
R7873:Preb	UTSW	5	31,116,109 (GRCm39)	missense	probably benign	0.05
R8417:Preb	UTSW	5	31,117,461 (GRCm39)	start gained	probably benign
R8515:Preb	UTSW	5	31,116,722 (GRCm39)	missense	probably damaging	1.00
R8948:Preb	UTSW	5	31,115,671 (GRCm39)	missense	probably damaging	0.96
R9037:Preb	UTSW	5	31,116,590 (GRCm39)	missense	probably benign	0.00
R9062:Preb	UTSW	5	31,116,196 (GRCm39)	missense	probably benign	0.00
R9332:Preb	UTSW	5	31,113,673 (GRCm39)	nonsense	probably null
R9348:Preb	UTSW	5	31,112,995 (GRCm39)	missense	probably benign	0.19
R9745:Preb	UTSW	5	31,116,732 (GRCm39)	missense	probably benign
X0065:Preb	UTSW	5	31,116,280 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTGATCTGGAACCTGCCCAAAC -3'
(R):5'- TGCTTGCCACTGGAGGAACTGATG -3'

Sequencing Primer
(F):5'- AGCTGTGTCACCAGTTGATCC -3'
(R):5'- TCATGTTCGTGTCTGGAAGG -3'

Posted On

2014-04-13