Mutagenetix > Incidental Mutations

Incidental Mutation 'R6339:Prr22'

513857

Institutional Source

Beutler Lab

Gene Symbol

Prr22

Ensembl Gene

ENSMUSG00000090273

Gene Name

proline rich 22

Synonyms

LOC224908, Gm546

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6339 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

56770250-56772208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56771490 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 214 (M214I)

Ref Sequence

ENSEMBL: ENSMUSP00000127457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000007747] [ENSMUST00000086801] [ENSMUST00000168666]

Predicted Effect

probably benign
Transcript: ENSMUST00000002444

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	4	149	1.9e-50	PFAM
Pfam:RFX_DNA_binding	192	269	4.3e-36	PFAM
Blast:HisKA	479	542	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000007747

SMART Domains

Protein: ENSMUSP00000007747
Gene: ENSMUSG00000007603

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Blast:ZnF_C3H1	109	136	2e-6	BLAST
Blast:ZnF_C3H1	146	172	6e-9	BLAST
Pfam:Dus	295	566	2e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086801

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	151	6.8e-56	PFAM
Pfam:RFX_DNA_binding	161	246	6e-41	PFAM
Blast:HisKA	454	517	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168666
AA Change: M214I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127457
Gene: ENSMUSG00000090273
AA Change: M214I

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
Pfam:PRR22	58	422	2.3e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187612

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,505	D1198V	probably benign	Het
4933424G06Rik	A	T	1: 36,710,461		probably benign	Het
Adgrg6	G	T	10: 14,434,347	S743R	probably damaging	Het
Ak8	A	G	2: 28,734,448		probably null	Het
Alpk2	A	G	18: 65,349,806	M377T	probably benign	Het
Ap1g1	G	A	8: 109,844,368	V425I	possibly damaging	Het
Apob	A	T	12: 8,016,188	R4353W	probably damaging	Het
Arhgef38	T	C	3: 133,133,662	K540R	probably benign	Het
AY761184	G	A	8: 21,703,469	S45F	possibly damaging	Het
B3galt2	A	T	1: 143,646,902	T259S	possibly damaging	Het
Btbd8	G	A	5: 107,503,717	V159I	probably benign	Het
C2cd2l	T	C	9: 44,313,491		probably benign	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Ccdc171	A	T	4: 83,742,997	T1115S	probably damaging	Het
Chst2	C	T	9: 95,405,750	G181D	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Cpt1a	A	C	19: 3,362,152	D208A	probably benign	Het
Crocc2	A	G	1: 93,214,032	E1183G	probably benign	Het
Dlg5	T	A	14: 24,158,060	H1003L	probably damaging	Het
Dok2	A	T	14: 70,775,718	I109L	probably benign	Het
Dpy19l4	A	T	4: 11,285,111	I465K	probably damaging	Het
Dync1h1	A	T	12: 110,646,205	D2838V	probably damaging	Het
Frem3	A	G	8: 80,613,015	R646G	possibly damaging	Het
Gcfc2	T	A	6: 81,946,496	F514I	probably damaging	Het
Gm8104	T	C	14: 43,101,485	M44T	probably benign	Het
Golph3l	T	A	3: 95,617,439	W334R	probably damaging	Het
Gpr179	A	T	11: 97,344,176	F443I	probably damaging	Het
Ift172	A	G	5: 31,256,583	V1467A	probably benign	Het
Ift172	A	T	5: 31,286,945	D44E	probably damaging	Het
Il1rl1	C	T	1: 40,461,856	A464V	possibly damaging	Het
Irx5	A	G	8: 92,359,853	E188G	probably damaging	Het
Jak1	A	G	4: 101,161,926	V710A	probably damaging	Het
Kcng4	A	T	8: 119,632,954	F228I	probably damaging	Het
Lifr	A	G	15: 7,167,049	N238S	probably benign	Het
Ltbp3	C	A	19: 5,747,477	H414Q	probably damaging	Het
Mcpt8	A	G	14: 56,082,337	C219R	probably benign	Het
Mepce	A	T	5: 137,785,688	N125K	possibly damaging	Het
Mfap3	T	C	11: 57,529,772	F193S	probably damaging	Het
Miox	T	A	15: 89,335,499	Y63*	probably null	Het
Msl2	A	T	9: 101,101,750	H441L	probably benign	Het
Nemp2	T	A	1: 52,640,910	S98T	possibly damaging	Het
Neto2	G	T	8: 85,640,558	A547E	probably benign	Het
Nol12	T	C	15: 78,940,833		probably benign	Het
Npr3	T	C	15: 11,845,275	I504V	probably damaging	Het
Olfr1204	A	G	2: 88,852,871	D307G	probably null	Het
Pcdhb3	T	C	18: 37,300,945		probably benign	Het
Pear1	C	A	3: 87,752,520	G720W	probably damaging	Het
Pibf1	T	G	14: 99,107,398	D151E	probably damaging	Het
Pla2g6	T	A	15: 79,308,816	N217I	probably damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Plcl1	C	T	1: 55,696,315	L272F	probably damaging	Het
Ppp4r4	A	T	12: 103,604,969	K656*	probably null	Het
Ror1	G	T	4: 100,411,931	R322L	possibly damaging	Het
Sh3tc2	G	A	18: 61,975,571	W244*	probably null	Het
Slamf6	A	G	1: 171,948,048	N320S	probably null	Het
Slc1a6	A	C	10: 78,800,085	D328A	possibly damaging	Het
Sorl1	G	T	9: 41,969,742	T2161K	probably benign	Het
Sstr2	T	C	11: 113,624,549	F98S	probably damaging	Het
Stk33	A	T	7: 109,321,465	D348E	probably benign	Het
Sulf1	T	A	1: 12,838,440	L559Q	probably damaging	Het
Syne2	A	G	12: 75,989,153	D3738G	probably benign	Het
Taok3	A	T	5: 117,228,030	Q382L	probably benign	Het
Tet2	T	A	3: 133,486,417	H752L	possibly damaging	Het
Tia1	A	C	6: 86,426,656	K285T	probably damaging	Het
Tle3	G	T	9: 61,401,924		probably null	Het
Top1mt	T	C	15: 75,665,656	T414A	possibly damaging	Het
Ubc	A	T	5: 125,387,342	I307N	probably damaging	Het
Vmn2r96	A	T	17: 18,583,862	D266V	possibly damaging	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zfp456	T	A	13: 67,362,364	K102*	probably null	Het
Zkscan1	T	C	5: 138,093,305	V100A	probably damaging	Het

Other mutations in Prr22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0462:Prr22	UTSW	17	56770551	unclassified	probably benign
R0787:Prr22	UTSW	17	56771072	missense	possibly damaging	0.71
R2290:Prr22	UTSW	17	56771884	missense	probably benign
R4749:Prr22	UTSW	17	56771274	missense	possibly damaging	0.51
R5099:Prr22	UTSW	17	56771467	missense	probably benign	0.32
R6268:Prr22	UTSW	17	56771587	missense	probably damaging	0.98
R6542:Prr22	UTSW	17	56770527	splice site	probably null
R6951:Prr22	UTSW	17	56772028	nonsense	probably null
R6991:Prr22	UTSW	17	56771345	missense	possibly damaging	0.92
R7721:Prr22	UTSW	17	56771819	missense	possibly damaging	0.92
R8352:Prr22	UTSW	17	56771311	missense	probably damaging	1.00
R8452:Prr22	UTSW	17	56771311	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTACCTTCCAGCGGAGG -3'
(R):5'- CATCTTCGAGAAGGACCTTGTC -3'

Sequencing Primer
(F):5'- ACGGAGGGCCTCTCAACTTC -3'
(R):5'- TCCGGTAGGAAGAACGCAC -3'

Posted On

2018-04-27