Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Prr14'

734610

Institutional Source

Beutler Lab

Gene Symbol

Prr14

Ensembl Gene

ENSMUSG00000030822

Gene Name

proline rich 14

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127070189-127075932 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 127071128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000033095 (fasta)

Gene Model

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

AlphaFold

Q7TPN9

Predicted Effect

probably null
Transcript: ENSMUST00000033095
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033095
Gene: ENSMUSG00000030822
AA Change: M1T

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 null
Transcript: ENSMUST00000106292
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101899
Gene: ENSMUSG00000030822
AA Change: M1T

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

probably benign
Transcript: ENSMUST00000132819

Predicted Effect

probably benign
Transcript: ENSMUST00000133817

Predicted Effect

probably null
Transcript: ENSMUST00000133938
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000206915

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Agpat2	A	G	2: 26,486,395 (GRCm39)	Y134H	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Asap3	A	T	4: 135,961,914 (GRCm39)	N285I	probably damaging	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Cacnb1	T	C	11: 97,900,186 (GRCm39)	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,483,957 (GRCm39)		probably null	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hormad1	T	C	3: 95,494,693 (GRCm39)	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
Ptpn22	A	T	3: 103,795,842 (GRCm39)	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	probably benign	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
R0376:Prr14	UTSW	7	127,075,815 (GRCm39)	missense	probably benign	0.33
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

Predicted Primers

PCR Primer
(F):5'- GTAACCTCCGCAATCCAGTC -3'
(R):5'- TGCTCGAGATAGAGGCTGAC -3'

Sequencing Primer
(F):5'- AATCCAGTCTCGCGGCAG -3'
(R):5'- TGACGGCACAGGCTTGG -3'

Posted On

2022-11-14