Mutagenetix > Incidental Mutations

Incidental Mutation 'R7624:Prr14l'

589309

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32829623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 843 (T843S)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]

AlphaFold

E9Q7C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120129
AA Change: T843S

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: T843S

Domain	Start	End	E-Value	Type
low complexity region	720	731	N/A	INTRINSIC
low complexity region	1433	1446	N/A	INTRINSIC
low complexity region	1471	1480	N/A	INTRINSIC
Pfam:Tantalus	1838	1895	2.9e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144673

SMART Domains

Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

Domain	Start	End	E-Value	Type
Pfam:Tantalus	158	193	1.2e-15	PFAM
Pfam:PS_Dcarbxylase	332	575	2.1e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155392

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280

Domain	Start	End	E-Value	Type
low complexity region	276	289	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,454,768	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,772,677	M514L	possibly damaging	Het
Ccdc78	A	G	17: 25,787,152	E98G	probably damaging	Het
Cmya5	A	T	13: 93,090,357	M2741K	possibly damaging	Het
Cnot1	T	G	8: 95,751,819	R959S	probably damaging	Het
Col12a1	G	T	9: 79,645,794		probably null	Het
Col4a3	A	G	1: 82,718,884	T177A	probably benign	Het
Cpa3	T	C	3: 20,225,143	N211D	possibly damaging	Het
Cryba1	T	C	11: 77,722,717	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,244,844	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,149,563	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,942,674	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,232	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,234	I210N	probably damaging	Het
Dscam	T	C	16: 96,610,324	D1784G	probably damaging	Het
Eya3	A	G	4: 132,672,951	T94A	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat3	T	C	9: 15,959,869	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,738,690	F309L	probably benign	Het
Gfra1	A	T	19: 58,238,446	M451K	probably benign	Het
Gm43517	T	A	12: 49,391,178	L318Q		Het
Gsc	A	T	12: 104,473,051	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,569,108	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Itga10	T	A	3: 96,652,953	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,176,136	D28G	probably benign	Het
Kiss1	A	G	1: 133,329,422	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Lcorl	T	C	5: 45,701,965	D269G	probably benign	Het
Letm2	A	T	8: 25,592,537	C174*	probably null	Het
Met	T	G	6: 17,558,835	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,419,189	S22P	probably benign	Het
Mroh2b	G	A	15: 4,917,131	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,458,272	L604P	probably damaging	Het
Olfr1044	A	T	2: 86,171,220	I199N	possibly damaging	Het
Olfr1145	A	G	2: 87,810,339	Q173R	probably damaging	Het
Olfr186	T	A	16: 59,027,019	Q296L	possibly damaging	Het
Olfr294	A	G	7: 86,616,561	F28S	possibly damaging	Het
Olfr824	A	C	10: 130,126,586	I157S	probably damaging	Het
Olfr918	C	T	9: 38,672,623	V274I	probably benign	Het
Pcdha9	T	A	18: 36,999,796	Y639*	probably null	Het
Pom121l2	A	T	13: 21,983,529	I657L	probably damaging	Het
Rln1	A	T	19: 29,332,099	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,732,427	M101L	probably benign	Het
Rtkn	A	G	6: 83,152,177	Y551C	probably benign	Het
Rundc1	G	C	11: 101,433,479	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,514,416		probably null	Het
Serpinb1b	T	A	13: 33,091,639		probably null	Het
Sgsm1	A	T	5: 113,274,335	C484*	probably null	Het
Slc22a19	T	A	19: 7,673,303	K547*	probably null	Het
Slc22a19	T	C	19: 7,693,818	T177A	probably benign	Het
Slc6a5	A	C	7: 49,941,866	K526N	probably benign	Het
Sqle	G	A	15: 59,330,754	R519Q	probably benign	Het
Stard9	T	C	2: 120,688,146	I517T	probably benign	Het
Taf15	A	T	11: 83,505,023	D518V	unknown	Het
Tdgf1	C	T	9: 110,945,949		probably benign	Het
Tenm4	A	G	7: 96,895,985	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,868,710	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,892,219	S548T	possibly damaging	Het
Trim62	A	T	4: 128,883,678		probably benign	Het
Ugt2b34	C	T	5: 86,891,282	V507M	possibly damaging	Het
Usp16	T	A	16: 87,476,805	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,382,736	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,675,601	M94L	probably benign	Het
Wnk4	G	T	11: 101,264,354	E364*	probably null	Het
Xpo1	T	A	11: 23,282,584	I368N	probably damaging	Het
Zfp366	A	G	13: 99,246,296	T656A	probably benign	Het
Zfp934	T	C	13: 62,518,524	M113V	probably benign	Het
Zkscan2	A	G	7: 123,498,771	V134A	probably damaging	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32830676	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32831066	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32828806	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32831845	unclassified	probably benign
IGL01929:Prr14l	APN	5	32828243	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32830205	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32827532	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32827807	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32830942	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32831484	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32829484	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32830543	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32828182	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32831096	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32835670	missense	unknown
IGL03034:Prr14l	APN	5	32827438	missense	possibly damaging	0.48
Polymer	UTSW	5	32827145	missense	probably benign	0.34
Postwar	UTSW	5	32830684	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32793728	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32831559	unclassified	probably benign
R0149:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32827993	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32828717	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32829880	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	32844216	intron	probably benign
R0639:Prr14l	UTSW	5	32828915	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32828915	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32831194	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32828423	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32829482	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32830260	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32828833	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32827949	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32830282	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	32844469	intron	probably benign
R2129:Prr14l	UTSW	5	32831828	unclassified	probably benign
R2150:Prr14l	UTSW	5	32830702	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32830078	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32829768	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32828619	splice site	probably null
R3820:Prr14l	UTSW	5	32828984	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32830345	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32828003	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32828576	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32829254	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32793644	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32829308	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	32844156	intron	probably benign
R4824:Prr14l	UTSW	5	32844399	intron	probably benign
R4868:Prr14l	UTSW	5	32829937	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32828833	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32830247	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32830021	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32827777	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	32844138	intron	probably benign
R5623:Prr14l	UTSW	5	32844508	intron	probably benign
R5730:Prr14l	UTSW	5	32793603	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32830851	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32829404	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32830264	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32827525	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32828548	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32827759	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32830867	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32830691	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32829427	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32829166	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32827145	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32830087	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32831101	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32830684	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32828638	missense	probably benign	0.00
R7649:Prr14l	UTSW	5	32828245	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32827253	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	32844391	intron	probably benign
R7898:Prr14l	UTSW	5	32829966	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32831164	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32830134	nonsense	probably null
R9136:Prr14l	UTSW	5	32828736	missense

Predicted Primers

PCR Primer
(F):5'- TAGATGCTTCCACACCCAGC -3'
(R):5'- GAAACATTAGTGGACCAGTCTCTGAG -3'

Sequencing Primer
(F):5'- GAGGCTCATCTGTGCAGTC -3'
(R):5'- AGTGGACCAGTCTCTGAGTATTC -3'

Posted On

2019-10-24