Mutagenetix > Incidental Mutation

Incidental Mutation 'R3820:Prr14l'

274850

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

040882-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R3820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32828984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1056 (C1056R)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120129
AA Change: C1056R

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

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: C1056R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	T	18: 6,630,166		probably null	Het
4932438A13Rik	G	A	3: 37,040,434	V917I	probably damaging	Het
Aarsd1	T	A	11: 101,411,145	I332F	probably damaging	Het
Abcd2	C	T	15: 91,174,705	G512D	probably damaging	Het
Adam6a	T	C	12: 113,544,178	I57T	probably benign	Het
Adam6b	C	T	12: 113,490,364	T267I	probably benign	Het
Ap1g2	G	A	14: 55,100,573		probably benign	Het
Arhgap22	G	A	14: 33,367,421	E455K	probably benign	Het
Ccdc93	T	C	1: 121,462,240	I253T	probably damaging	Het
Cd44	T	C	2: 102,901,393		probably null	Het
Cnot6	A	T	11: 49,689,172	S98T	probably benign	Het
Dnah9	C	A	11: 65,851,003		probably null	Het
Edar	T	C	10: 58,621,363	Y131C	probably damaging	Het
Eif5	A	T	12: 111,540,184	R43*	probably null	Het
Eml4	C	A	17: 83,473,065	T667K	probably damaging	Het
Fam196b	T	C	11: 34,403,007	S350P	probably benign	Het
Fchsd1	A	G	18: 37,969,457		probably benign	Het
Flt1	A	G	5: 147,700,017		probably benign	Het
Frem2	T	A	3: 53,516,849	I3056F	probably damaging	Het
Hivep1	A	T	13: 42,184,311	H2622L	possibly damaging	Het
Ido2	T	C	8: 24,533,755	I356V	probably benign	Het
Itgb3	C	A	11: 104,633,612	Y191*	probably null	Het
Kcnma1	T	C	14: 23,299,938	T1178A	possibly damaging	Het
Kcnt1	A	G	2: 25,900,892	H486R	probably damaging	Het
Kif21a	T	C	15: 90,968,074	N950S	probably benign	Het
Lama1	C	A	17: 67,779,046		probably null	Het
Lrrc4b	T	A	7: 44,462,558	V618E	probably damaging	Het
Micall2	C	T	5: 139,715,856	G461D	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Ncoa6	T	A	2: 155,406,938	N1482I	probably damaging	Het
Pcdhga10	A	G	18: 37,747,942	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,752,233	T152K	possibly damaging	Het
Pds5a	A	G	5: 65,654,076	V338A	possibly damaging	Het
Pds5b	T	C	5: 150,736,337	V255A	possibly damaging	Het
Prkar2a	T	G	9: 108,746,956	F391V	probably damaging	Het
Ptpn23	A	G	9: 110,389,794		probably benign	Het
Serpinb5	T	A	1: 106,875,072	Y112*	probably null	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Tdrd5	A	G	1: 156,285,483	V409A	probably benign	Het
Tenm2	A	T	11: 36,024,320	I2129N	probably damaging	Het
Tmem8b	C	A	4: 43,689,745	H800N	probably damaging	Het
Trpm3	A	T	19: 22,987,449	N1436I	probably benign	Het
Unc13c	A	T	9: 73,930,958	S870R	probably benign	Het
Vmn2r16	C	T	5: 109,362,277	P509S	probably benign	Het
Vmn2r60	A	T	7: 42,135,701	E112D	probably damaging	Het
Xpnpep1	G	A	19: 53,003,819		probably benign	Het
Zfp729a	A	T	13: 67,621,319	C264S	probably damaging	Het
Zmynd8	T	A	2: 165,815,461	K521*	probably null	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
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
R7624:Prr14l	UTSW	5	32829623	missense	possibly damaging	0.54
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
R9682:Prr14l	UTSW	5	32830679	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATTCCTGCCTTCATGTCAGAAAG -3'
(R):5'- TGGAAGACTGTCCAGACTCTG -3'

Sequencing Primer
(F):5'- AGGACTGTGCAATCCTTGAC -3'
(R):5'- TCCAGACTCTGCCATTGATCATGAAG -3'

Posted On

2015-04-02