Mutagenetix > Incidental Mutation

Incidental Mutation 'R0376:Prr14'

30753

Institutional Source

Beutler Lab

Gene Symbol

Prr14

Ensembl Gene

ENSMUSG00000030822

Gene Name

proline rich 14

Synonyms

MMRRC Submission

038582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127070189-127075932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127075815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 181 (H181Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033095] [ENSMUST00000106292] [ENSMUST00000133817] [ENSMUST00000133938] [ENSMUST00000206915] [ENSMUST00000206394] [ENSMUST00000205432]

AlphaFold

Q7TPN9

Predicted Effect

probably benign
Transcript: ENSMUST00000033095
AA Change: H608Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033095
Gene: ENSMUSG00000030822
AA Change: H608Y

Domain	Start	End	E-Value	Type
low complexity region	241	256	N/A	INTRINSIC
low complexity region	263	273	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:Tantalus	485	545	5.6e-28	PFAM
low complexity region	554	564	N/A	INTRINSIC
low complexity region	587	603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106292
AA Change: H608Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101899
Gene: ENSMUSG00000030822
AA Change: H608Y

Domain	Start	End	E-Value	Type
low complexity region	241	256	N/A	INTRINSIC
low complexity region	263	273	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:Tantalus	487	544	1.7e-26	PFAM
low complexity region	554	564	N/A	INTRINSIC
low complexity region	587	603	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132124

Predicted Effect

probably benign
Transcript: ENSMUST00000132819

Predicted Effect

probably benign
Transcript: ENSMUST00000133817

Predicted Effect

probably benign
Transcript: ENSMUST00000133938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142532

Predicted Effect

probably benign
Transcript: ENSMUST00000206915
AA Change: H181Y

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147202

Predicted Effect

probably benign
Transcript: ENSMUST00000206394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206118

Predicted Effect

probably benign
Transcript: ENSMUST00000205432

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.0%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	C	12: 113,508,310 (GRCm39)	Y228H	probably damaging	Het
Als2	A	G	1: 59,254,724 (GRCm39)	F211S	probably benign	Het
Ankrd12	T	A	17: 66,360,004 (GRCm39)	Q11L	probably damaging	Het
Anxa5	T	C	3: 36,514,637 (GRCm39)	R115G	probably damaging	Het
Arhgap10	T	C	8: 78,177,453 (GRCm39)		probably benign	Het
Atp2a3	T	A	11: 72,873,528 (GRCm39)	D782E	probably damaging	Het
Bcr	G	T	10: 74,981,159 (GRCm39)	L659F	probably damaging	Het
Cacna1b	A	G	2: 24,549,015 (GRCm39)		probably benign	Het
Camp	C	T	9: 109,677,467 (GRCm39)	C122Y	probably damaging	Het
Cimip1	G	A	2: 173,370,120 (GRCm39)	E132K	probably benign	Het
Col12a1	A	T	9: 79,600,776 (GRCm39)	S769R	probably benign	Het
Cyp2j6	T	A	4: 96,414,260 (GRCm39)	K335I	probably damaging	Het
Cyp3a11	A	C	5: 145,799,262 (GRCm39)	Y308*	probably null	Het
Flnb	G	A	14: 7,946,014 (GRCm38)		probably null	Het
Frmd4a	G	T	2: 4,577,198 (GRCm39)	M351I	probably damaging	Het
Gabrg2	C	T	11: 41,807,142 (GRCm39)	S365N	possibly damaging	Het
Ggn	T	C	7: 28,872,447 (GRCm39)	V609A	possibly damaging	Het
H60c	T	C	10: 3,210,435 (GRCm39)		probably benign	Het
Hexd	T	A	11: 121,108,991 (GRCm39)		probably benign	Het
Igsf9b	A	G	9: 27,245,878 (GRCm39)	T1282A	probably benign	Het
Ikzf4	T	C	10: 128,468,625 (GRCm39)	N618S	probably benign	Het
Ints14	A	G	9: 64,891,272 (GRCm39)	K418E	probably damaging	Het
Iqgap1	T	C	7: 80,373,627 (GRCm39)	E1454G	probably benign	Het
Kif13b	T	C	14: 64,994,853 (GRCm39)		probably benign	Het
Krt71	A	C	15: 101,646,505 (GRCm39)	F328C	probably damaging	Het
Lama2	T	C	10: 26,891,542 (GRCm39)	T2524A	possibly damaging	Het
Mfn2	C	T	4: 147,969,983 (GRCm39)	V363I	probably benign	Het
Mkln1	A	T	6: 31,454,953 (GRCm39)	D496V	probably benign	Het
Or2q1	A	T	6: 42,795,226 (GRCm39)	M274L	probably benign	Het
Patj	T	A	4: 98,457,224 (GRCm39)	I1242N	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plcb2	T	C	2: 118,547,721 (GRCm39)	E502G	probably damaging	Het
Plppr4	G	T	3: 117,116,740 (GRCm39)	H314Q	probably benign	Het
Prkcsh	A	G	9: 21,921,547 (GRCm39)		probably benign	Het
Pus3	A	T	9: 35,477,718 (GRCm39)	M317L	possibly damaging	Het
Pwwp2a	T	A	11: 43,595,499 (GRCm39)	D221E	probably benign	Het
Rbm15	T	C	3: 107,238,254 (GRCm39)	S715G	probably benign	Het
Rbm28	A	G	6: 29,158,927 (GRCm39)		probably benign	Het
Rhobtb2	A	T	14: 70,034,184 (GRCm39)	V347E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Scgb1b27	C	T	7: 33,721,322 (GRCm39)	T70I	possibly damaging	Het
Slc40a1	T	C	1: 45,951,651 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca9	A	G	2: 28,583,672 (GRCm39)	V104A	probably benign	Het
Spag7	T	C	11: 70,560,016 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,505,288 (GRCm39)	D85G	probably damaging	Het
Sun1	A	G	5: 139,212,454 (GRCm39)		probably benign	Het
Tcp11l1	C	A	2: 104,527,850 (GRCm39)		probably benign	Het
Tead3	A	C	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tecpr1	A	T	5: 144,144,294 (GRCm39)	V636E	possibly damaging	Het
Tldc2	T	C	2: 156,937,225 (GRCm39)	W147R	probably damaging	Het
Tmem161b	A	G	13: 84,440,502 (GRCm39)	T125A	probably benign	Het
Trrap	A	G	5: 144,753,149 (GRCm39)	M1825V	probably benign	Het
Ttbk2	A	G	2: 120,608,062 (GRCm39)	F186L	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Zc3h7a	T	C	16: 10,974,066 (GRCm39)	M240V	probably benign	Het
Zc3hc1	G	C	6: 30,372,789 (GRCm39)	S351W	probably damaging	Het
Zfp366	T	C	13: 99,370,759 (GRCm39)	M493T	probably benign	Het
Zfp93	C	T	7: 23,975,286 (GRCm39)	P424S	probably damaging	Het

Other mutations in Prr14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Prr14	APN	7	127,073,819 (GRCm39)	missense	probably benign	0.01
IGL01614:Prr14	APN	7	127,074,305 (GRCm39)	missense	probably damaging	1.00
IGL01655:Prr14	APN	7	127,074,939 (GRCm39)	missense	probably benign	0.00
IGL02273:Prr14	APN	7	127,075,108 (GRCm39)	missense	probably damaging	1.00
IGL03033:Prr14	APN	7	127,071,135 (GRCm39)	missense	probably damaging	1.00
R0364:Prr14	UTSW	7	127,073,751 (GRCm39)	missense	probably benign	0.01
R0448:Prr14	UTSW	7	127,073,898 (GRCm39)	unclassified	probably benign
R0555:Prr14	UTSW	7	127,071,267 (GRCm39)	unclassified	probably benign
R1462:Prr14	UTSW	7	127,073,160 (GRCm39)	critical splice donor site	probably null
R1462:Prr14	UTSW	7	127,073,160 (GRCm39)	critical splice donor site	probably null
R1534:Prr14	UTSW	7	127,073,154 (GRCm39)	missense	probably benign	0.08
R1982:Prr14	UTSW	7	127,074,662 (GRCm39)	missense	possibly damaging	0.87
R2357:Prr14	UTSW	7	127,074,535 (GRCm39)	missense	probably benign	0.02
R4729:Prr14	UTSW	7	127,073,868 (GRCm39)	missense	probably benign	0.00
R5582:Prr14	UTSW	7	127,075,569 (GRCm39)	missense	probably damaging	1.00
R5757:Prr14	UTSW	7	127,074,725 (GRCm39)	missense	possibly damaging	0.65
R6497:Prr14	UTSW	7	127,073,750 (GRCm39)	missense	probably benign	0.03
R6987:Prr14	UTSW	7	127,072,977 (GRCm39)	missense	possibly damaging	0.94
R7202:Prr14	UTSW	7	127,075,648 (GRCm39)	missense	probably damaging	0.99
R7376:Prr14	UTSW	7	127,075,749 (GRCm39)	missense	probably benign
R7380:Prr14	UTSW	7	127,075,614 (GRCm39)	missense	probably null	1.00
R7426:Prr14	UTSW	7	127,074,458 (GRCm39)	missense	probably benign	0.00
R7470:Prr14	UTSW	7	127,074,997 (GRCm39)	missense	probably null	1.00
R8322:Prr14	UTSW	7	127,072,999 (GRCm39)	missense	probably benign	0.08
R8780:Prr14	UTSW	7	127,075,410 (GRCm39)	missense	probably benign	0.33
R9488:Prr14	UTSW	7	127,073,687 (GRCm39)	missense	possibly damaging	0.63
R9665:Prr14	UTSW	7	127,073,091 (GRCm39)	missense	probably benign	0.10
R9790:Prr14	UTSW	7	127,071,128 (GRCm39)	start codon destroyed	probably null	0.99
R9791:Prr14	UTSW	7	127,071,128 (GRCm39)	start codon destroyed	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- TGACCCAGGACCTTTGAGACCATC -3'
(R):5'- TGATTTCAAACTCTGCTGGAGGCAC -3'

Sequencing Primer
(F):5'- AGGACCTTTGAGACCATCTTTGAG -3'
(R):5'- TCTGCTGGAGGCACAAAGG -3'

Posted On

2013-04-24