Mutagenetix > Incidental Mutation

Incidental Mutation 'R8948:Preb'

681442

Institutional Source

Beutler Lab

Gene Symbol

Preb

Ensembl Gene

ENSMUSG00000045302

Gene Name

prolactin regulatory element binding

Synonyms

MMRRC Submission

068786-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R8948 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31109011-31117700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31115671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 220 (S220P)

Ref Sequence

ENSEMBL: ENSMUSP00000144263 (fasta)

Gene Model

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

AlphaFold

Q9WUQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074840
AA Change: S220P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: S220P

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

probably benign
Transcript: ENSMUST00000201821

Predicted Effect

probably damaging
Transcript: ENSMUST00000202567
AA Change: S220P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
AA Change: S220P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,418,805 (GRCm39)	I102T	possibly damaging	Het
Abca9	T	C	11: 110,054,206 (GRCm39)		probably null	Het
Ago3	T	C	4: 126,244,115 (GRCm39)		probably null	Het
Akap1	G	T	11: 88,735,099 (GRCm39)	A75E	probably damaging	Het
Atad2b	C	A	12: 5,041,012 (GRCm39)	A227E	possibly damaging	Het
Bmpr1a	G	T	14: 34,163,148 (GRCm39)	H81N	possibly damaging	Het
Camkv	C	T	9: 107,824,296 (GRCm39)	T236I	probably damaging	Het
Ccdc30	T	C	4: 119,181,358 (GRCm39)	E601G	probably benign	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cdkn3	C	T	14: 47,004,780 (GRCm39)	P114L	probably damaging	Het
Col6a2	C	T	10: 76,446,527 (GRCm39)	G352D	probably damaging	Het
Csf2rb	A	T	15: 78,232,520 (GRCm39)	D609V	probably benign	Het
Ctc1	T	G	11: 68,917,175 (GRCm39)	Y110*	probably null	Het
D630023F18Rik	T	A	1: 65,147,899 (GRCm39)	N218I	probably damaging	Het
Dchs1	A	T	7: 105,408,212 (GRCm39)	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,012,396 (GRCm39)	D1901G	probably damaging	Het
Eddm3b	T	A	14: 51,354,110 (GRCm39)	S33T	probably damaging	Het
Efcc1	A	G	6: 87,728,768 (GRCm39)	T408A	probably benign	Het
Epas1	A	G	17: 87,134,920 (GRCm39)	T518A	probably benign	Het
Ergic2	A	T	6: 148,104,005 (GRCm39)	M84K	probably damaging	Het
Ergic3	T	C	2: 155,853,160 (GRCm39)	V201A	probably benign	Het
Espn	C	A	4: 152,223,278 (GRCm39)	W258L	probably damaging	Het
Gm45337	A	G	7: 141,697,817 (GRCm39)	S156P	unknown	Het
Hmcn2	T	C	2: 31,244,741 (GRCm39)	Y733H	probably damaging	Het
Itga2	C	T	13: 115,009,866 (GRCm39)	G363D	probably damaging	Het
Kcnk5	T	C	14: 20,192,046 (GRCm39)	R372G	probably benign	Het
Khdc4	G	T	3: 88,617,219 (GRCm39)	S506I	probably damaging	Het
Kif11	T	A	19: 37,386,602 (GRCm39)	D387E	probably damaging	Het
Lrrn2	A	C	1: 132,866,104 (GRCm39)	I390L	probably benign	Het
Map2	G	T	1: 66,419,684 (GRCm39)	R5L	probably damaging	Het
Muc16	C	T	9: 18,558,529 (GRCm39)	R2588K	unknown	Het
Or3a10	A	G	11: 73,935,782 (GRCm39)	F106S	possibly damaging	Het
Or5b99	A	T	19: 12,976,445 (GRCm39)	I32F	probably damaging	Het
Or7g29	A	G	9: 19,286,262 (GRCm39)	I305T	probably benign	Het
Osbpl8	T	C	10: 111,103,530 (GRCm39)	I178T	probably damaging	Het
Pak2	A	T	16: 31,852,729 (GRCm39)		probably benign	Het
Perp	A	T	10: 18,729,326 (GRCm39)	I86F	possibly damaging	Het
Plpp1	A	T	13: 112,993,511 (GRCm39)	I149F	probably damaging	Het
Polr1f	T	A	12: 33,483,526 (GRCm39)	Y93N	probably damaging	Het
Prrt4	T	C	6: 29,177,665 (GRCm39)	T35A	probably damaging	Het
Ror2	T	A	13: 53,286,032 (GRCm39)	I73F	possibly damaging	Het
Rpl36-ps4	A	G	17: 88,228,574 (GRCm39)	T40A	probably damaging	Het
Rsbn1	A	T	3: 103,868,830 (GRCm39)	H623L	possibly damaging	Het
Sap30	C	A	8: 57,940,456 (GRCm39)	A49S	possibly damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Sh3pxd2a	T	C	19: 47,361,882 (GRCm39)	R83G	probably damaging	Het
Slc35e1	A	T	8: 73,246,042 (GRCm39)	I130N	probably damaging	Het
Smchd1	C	T	17: 71,743,767 (GRCm39)	R466Q	probably damaging	Het
Smgc	C	T	15: 91,722,565 (GRCm39)		probably benign	Het
Stk32b	A	T	5: 37,612,341 (GRCm39)	N348K	possibly damaging	Het
Sult2a1	A	G	7: 13,530,342 (GRCm39)	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,467,484 (GRCm39)	M1L	probably damaging	Het
Telo2	A	G	17: 25,332,085 (GRCm39)	V161A	probably benign	Het
Tmed11	C	T	5: 108,925,293 (GRCm39)	R173H	probably damaging	Het
Trappc6a	G	A	7: 19,249,923 (GRCm39)		probably benign	Het
Vmn2r5	A	T	3: 64,398,522 (GRCm39)	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,606,569 (GRCm39)	I259T	probably damaging	Het
Vps13a	A	G	19: 16,723,340 (GRCm39)	I286T	probably damaging	Het
Vsig10l	A	T	7: 43,117,623 (GRCm39)	I739F	possibly damaging	Het
Zfyve1	A	C	12: 83,594,802 (GRCm39)	V730G	probably benign	Het
Zfyve9	A	T	4: 108,499,288 (GRCm39)	D1284E	possibly damaging	Het
Zmym4	C	T	4: 126,758,060 (GRCm39)	R1498H	probably damaging	Het
Znhit2	A	T	19: 6,111,803 (GRCm39)	R183*	probably null	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
R1520:Preb	UTSW	5	31,115,868 (GRCm39)	missense	probably benign	0.14
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
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'- CTGGTCACACCTGGAACAAC -3'
(R):5'- CTGGAGTTCAAAGCCCATGAAG -3'

Sequencing Primer
(F):5'- TGGAACAACCTCCAACAAGG -3'
(R):5'- CCATGAAGGGGAGATTGGAGATTTG -3'

Posted On

2021-08-31