Mutagenetix > Incidental Mutation

Incidental Mutation 'R5596:Pramel22'

457986

Institutional Source

Beutler Lab

Gene Symbol

Pramel22

Ensembl Gene

ENSMUSG00000078513

Gene Name

PRAME like 22

Synonyms

Gm13088

MMRRC Submission

043148-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5596 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143380330-143383816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143381025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 333 (T333S)

Ref Sequence

ENSEMBL: ENSMUSP00000101397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105771]

AlphaFold

A2AGW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000105771
AA Change: T333S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: T333S

Domain	Start	End	E-Value	Type
low complexity region	188	202	N/A	INTRINSIC
low complexity region	372	391	N/A	INTRINSIC

Meta Mutation Damage Score

0.2735

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,000,972 (GRCm39)	M1503V	possibly damaging	Het
Abraxas1	A	T	5: 100,966,403 (GRCm39)	V53D	probably damaging	Het
Bub1b	T	C	2: 118,461,463 (GRCm39)	S672P	probably damaging	Het
C1qtnf7	A	T	5: 43,673,313 (GRCm39)		probably benign	Het
Cacng7	A	T	7: 3,415,420 (GRCm39)	I262F	probably benign	Het
Capzb	T	G	4: 139,006,738 (GRCm39)		probably benign	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cfap69	A	G	5: 5,676,020 (GRCm39)	L225P	probably damaging	Het
Cftr	A	G	6: 18,268,095 (GRCm39)	T685A	probably benign	Het
Col12a1	G	A	9: 79,611,041 (GRCm39)	T177M	probably damaging	Het
Creb3l3	T	G	10: 80,920,881 (GRCm39)	D383A	probably benign	Het
Cyp2j8	T	A	4: 96,395,578 (GRCm39)	I16F	probably benign	Het
Dnah5	G	T	15: 28,343,754 (GRCm39)	A2385S	probably damaging	Het
Enox1	A	G	14: 77,816,493 (GRCm39)	I158V	probably benign	Het
Erich3	A	T	3: 154,433,033 (GRCm39)	T139S	probably damaging	Het
Fam186b	A	T	15: 99,169,170 (GRCm39)	S926T	possibly damaging	Het
Gjd2	C	A	2: 113,841,965 (GRCm39)	V171F	possibly damaging	Het
Helz2	A	T	2: 180,879,082 (GRCm39)		probably benign	Het
Herc1	T	TTN	9: 66,341,345 (GRCm39)		probably benign	Het
Impg1	A	T	9: 80,252,500 (GRCm39)	V483E	probably benign	Het
Irx4	A	G	13: 73,415,799 (GRCm39)	N196S	probably damaging	Het
Kcnip1	T	C	11: 33,580,597 (GRCm39)	D213G	probably damaging	Het
Lmntd1	T	A	6: 145,359,140 (GRCm39)	T191S	probably benign	Het
Med12l	T	A	3: 59,159,771 (GRCm39)	N1273K	probably benign	Het
Musk	T	C	4: 58,373,036 (GRCm39)	C654R	probably damaging	Het
Nlrp4d	A	T	7: 10,115,951 (GRCm39)	S274T	noncoding transcript	Het
Omd	A	G	13: 49,745,814 (GRCm39)	H408R	probably benign	Het
Pbld2	C	T	10: 62,907,791 (GRCm39)	A219V	probably damaging	Het
Pramel32	C	T	4: 88,548,292 (GRCm39)	E38K	probably damaging	Het
Ptpn1	T	C	2: 167,816,683 (GRCm39)	I246T	probably damaging	Het
Sap18b	G	T	8: 96,551,998 (GRCm39)	A3S	unknown	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Sstr4	G	T	2: 148,237,652 (GRCm39)	V88F	possibly damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tmcc2	T	C	1: 132,288,221 (GRCm39)	N489D	probably damaging	Het
Tnfrsf9	T	C	4: 151,014,331 (GRCm39)	V10A	probably benign	Het
Tnxb	T	A	17: 34,907,778 (GRCm39)	V1274E	probably damaging	Het
Ube3b	T	A	5: 114,544,221 (GRCm39)		probably null	Het
Vwa5a	A	T	9: 38,633,874 (GRCm39)	I26F	probably damaging	Het

Other mutations in Pramel22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Pramel22	APN	4	143,381,887 (GRCm39)	missense	probably benign	0.00
IGL01418:Pramel22	APN	4	143,381,887 (GRCm39)	missense	probably benign	0.00
IGL01551:Pramel22	APN	4	143,383,042 (GRCm39)	missense	probably damaging	0.99
IGL02016:Pramel22	APN	4	143,381,889 (GRCm39)	missense	possibly damaging	0.52
IGL02157:Pramel22	APN	4	143,380,947 (GRCm39)	missense	probably damaging	1.00
IGL02433:Pramel22	APN	4	143,382,007 (GRCm39)	missense	possibly damaging	0.92
IGL02726:Pramel22	APN	4	143,381,955 (GRCm39)	missense	probably damaging	1.00
IGL02900:Pramel22	APN	4	143,382,085 (GRCm39)	missense	possibly damaging	0.59
IGL03367:Pramel22	APN	4	143,382,193 (GRCm39)	missense	possibly damaging	0.46
IGL02835:Pramel22	UTSW	4	143,380,817 (GRCm39)	missense	probably damaging	1.00
R0141:Pramel22	UTSW	4	143,381,138 (GRCm39)	missense	probably benign	0.01
R0166:Pramel22	UTSW	4	143,381,081 (GRCm39)	missense	probably benign	0.00
R0197:Pramel22	UTSW	4	143,383,010 (GRCm39)	missense	possibly damaging	0.76
R0365:Pramel22	UTSW	4	143,382,071 (GRCm39)	nonsense	probably null
R0427:Pramel22	UTSW	4	143,380,993 (GRCm39)	missense	probably benign	0.00
R0701:Pramel22	UTSW	4	143,383,010 (GRCm39)	missense	possibly damaging	0.76
R0927:Pramel22	UTSW	4	143,380,790 (GRCm39)	missense	possibly damaging	0.84
R1103:Pramel22	UTSW	4	143,381,942 (GRCm39)	missense	probably damaging	1.00
R1163:Pramel22	UTSW	4	143,383,204 (GRCm39)	missense	probably damaging	1.00
R1565:Pramel22	UTSW	4	143,382,187 (GRCm39)	nonsense	probably null
R1588:Pramel22	UTSW	4	143,382,121 (GRCm39)	missense	probably damaging	1.00
R1669:Pramel22	UTSW	4	143,380,916 (GRCm39)	missense	possibly damaging	0.53
R1925:Pramel22	UTSW	4	143,381,025 (GRCm39)	missense	probably damaging	1.00
R1929:Pramel22	UTSW	4	143,380,712 (GRCm39)	missense	probably damaging	1.00
R1990:Pramel22	UTSW	4	143,380,838 (GRCm39)	missense	probably damaging	1.00
R2272:Pramel22	UTSW	4	143,380,712 (GRCm39)	missense	probably damaging	1.00
R2845:Pramel22	UTSW	4	143,380,868 (GRCm39)	missense	probably damaging	0.99
R3819:Pramel22	UTSW	4	143,382,365 (GRCm39)	missense	probably benign	0.02
R4660:Pramel22	UTSW	4	143,380,847 (GRCm39)	missense	probably benign	0.01
R4857:Pramel22	UTSW	4	143,383,158 (GRCm39)	missense	possibly damaging	0.65
R4888:Pramel22	UTSW	4	143,380,971 (GRCm39)	missense	probably benign	0.33
R5004:Pramel22	UTSW	4	143,380,706 (GRCm39)	missense	probably benign
R5242:Pramel22	UTSW	4	143,382,181 (GRCm39)	missense	probably benign	0.38
R5246:Pramel22	UTSW	4	143,382,127 (GRCm39)	missense	probably benign	0.00
R5735:Pramel22	UTSW	4	143,381,205 (GRCm39)	missense	probably damaging	1.00
R5841:Pramel22	UTSW	4	143,382,109 (GRCm39)	missense	possibly damaging	0.95
R5982:Pramel22	UTSW	4	143,381,034 (GRCm39)	missense	probably damaging	0.99
R6052:Pramel22	UTSW	4	143,382,222 (GRCm39)	missense	probably damaging	1.00
R6169:Pramel22	UTSW	4	143,380,685 (GRCm39)	missense	probably benign	0.04
R6403:Pramel22	UTSW	4	143,382,343 (GRCm39)	nonsense	probably null
R6584:Pramel22	UTSW	4	143,382,040 (GRCm39)	missense	possibly damaging	0.74
R6898:Pramel22	UTSW	4	143,382,053 (GRCm39)	missense	probably damaging	1.00
R7438:Pramel22	UTSW	4	143,382,130 (GRCm39)	missense	probably damaging	0.96
R7563:Pramel22	UTSW	4	143,380,675 (GRCm39)	nonsense	probably null
R7674:Pramel22	UTSW	4	143,382,175 (GRCm39)	nonsense	probably null
R7792:Pramel22	UTSW	4	143,381,123 (GRCm39)	missense	probably benign	0.00
R7796:Pramel22	UTSW	4	143,380,727 (GRCm39)	missense	possibly damaging	0.57
R7915:Pramel22	UTSW	4	143,382,315 (GRCm39)	missense	possibly damaging	0.94
R7921:Pramel22	UTSW	4	143,383,135 (GRCm39)	missense	probably damaging	0.97
R8213:Pramel22	UTSW	4	143,380,755 (GRCm39)	missense	probably benign	0.00
R8419:Pramel22	UTSW	4	143,382,997 (GRCm39)	missense	probably damaging	0.99
R8813:Pramel22	UTSW	4	143,380,913 (GRCm39)	missense	probably damaging	1.00
R8844:Pramel22	UTSW	4	143,380,976 (GRCm39)	missense	probably damaging	0.99
R8893:Pramel22	UTSW	4	143,382,060 (GRCm39)	missense	probably damaging	1.00
R9098:Pramel22	UTSW	4	143,381,097 (GRCm39)	missense	probably benign	0.01
R9185:Pramel22	UTSW	4	143,381,898 (GRCm39)	missense	probably benign	0.03
R9422:Pramel22	UTSW	4	143,382,982 (GRCm39)	missense	probably damaging	1.00
X0021:Pramel22	UTSW	4	143,382,318 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2017-02-16