Mutagenetix > Incidental Mutation

Incidental Mutation 'R5841:Pramel22'

450429

Institutional Source

Beutler Lab

Gene Symbol

Pramel22

Ensembl Gene

ENSMUSG00000078513

Gene Name

PRAME like 22

Synonyms

Gm13088

MMRRC Submission

044061-MU

Accession Numbers

Essential gene?

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

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143380330-143383816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143382109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 196 (S196P)

Ref Sequence

ENSEMBL: ENSMUSP00000101397 (fasta)

Gene Model

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

AlphaFold

A2AGW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105771
AA Change: S196P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: S196P

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,150,994 (GRCm39)	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596 (GRCm38)	V188D	probably benign	Het
Bbs12	T	G	3: 37,373,670 (GRCm39)	N39K	probably benign	Het
Bend5	A	G	4: 111,290,667 (GRCm39)	Y221C	probably damaging	Het
Brd8	A	G	18: 34,738,576 (GRCm39)	S683P	probably damaging	Het
Caskin1	A	G	17: 24,715,183 (GRCm39)	D79G	probably damaging	Het
Cdyl	T	C	13: 36,056,544 (GRCm39)	L509P	probably damaging	Het
Cenpf	G	T	1: 189,389,641 (GRCm39)	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,431,027 (GRCm39)	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,951,497 (GRCm39)	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,183,899 (GRCm39)	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,151,670 (GRCm39)	F181Y	probably damaging	Het
Dennd5b	T	C	6: 148,946,253 (GRCm39)	T453A	probably benign	Het
Dlgap3	A	G	4: 127,089,193 (GRCm39)	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dync2li1	G	A	17: 84,940,990 (GRCm39)	G69R	probably damaging	Het
Edc3	T	C	9: 57,651,885 (GRCm39)	V331A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ganc	C	T	2: 120,242,020 (GRCm39)	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,663,143 (GRCm39)	C179F	unknown	Het
Gnptg	A	G	17: 25,454,391 (GRCm39)	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,698,059 (GRCm39)	V349I	probably benign	Het
Hydin	T	C	8: 111,259,846 (GRCm39)	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,097,999 (GRCm39)	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,692,463 (GRCm39)	R13H	probably benign	Het
Klb	A	T	5: 65,536,667 (GRCm39)	K666*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kpna7	T	C	5: 144,930,766 (GRCm39)	I360V	possibly damaging	Het
Lmbrd2	A	G	15: 9,182,657 (GRCm39)	K576E	possibly damaging	Het
Lrp2	T	A	2: 69,310,497 (GRCm39)	Y2692F	probably benign	Het
Meis2	T	A	2: 115,889,145 (GRCm39)	E202D	probably benign	Het
Mgat4c	A	T	10: 102,224,826 (GRCm39)	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501 (GRCm39)	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,830,292 (GRCm39)	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Mycbpap	T	A	11: 94,396,436 (GRCm39)	R135W	probably damaging	Het
Myo1g	T	A	11: 6,457,000 (GRCm39)	Y942F	probably benign	Het
Myrf	T	C	19: 10,200,911 (GRCm39)	K52R	probably null	Het
Ncf2	A	T	1: 152,697,269 (GRCm39)		silent	Het
Nherf2	A	T	17: 24,863,851 (GRCm39)	M8K	probably benign	Het
Or51f1e	T	C	7: 102,747,161 (GRCm39)	F71S	probably damaging	Het
Otx1	T	C	11: 21,948,594 (GRCm39)		probably benign	Het
Pcnx1	T	A	12: 81,965,429 (GRCm39)	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,383,096 (GRCm39)	L305P	probably damaging	Het
Pira13	T	A	7: 3,825,898 (GRCm39)	R324*	probably null	Het
Polr3a	A	T	14: 24,500,766 (GRCm39)	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,983 (GRCm39)	T644A	probably benign	Het
Ptbp1	A	G	10: 79,695,766 (GRCm39)	D289G	probably benign	Het
Pwp2	A	G	10: 78,007,952 (GRCm39)	F868L	probably benign	Het
Rgs8	A	G	1: 153,568,574 (GRCm39)	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,493,180 (GRCm39)		probably benign	Het
Sbf1	T	C	15: 89,192,271 (GRCm39)	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728 (GRCm39)	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,016,547 (GRCm39)	Y349*	probably null	Het
Slc38a9	T	C	13: 112,831,856 (GRCm39)	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,951,509 (GRCm39)	M216K	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,299,614 (GRCm39)	N315S	probably benign	Het
Strc	A	G	2: 121,196,358 (GRCm39)	F1557L	probably benign	Het
Susd3	C	A	13: 49,392,202 (GRCm39)		probably benign	Het
Usp54	G	A	14: 20,600,351 (GRCm39)	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,114,787 (GRCm39)	N150K	probably damaging	Het
Vwa8	C	T	14: 79,231,958 (GRCm39)	H606Y	probably benign	Het
Zmym6	A	G	4: 126,994,463 (GRCm39)	I206V	possibly 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
R5596:Pramel22	UTSW	4	143,381,025 (GRCm39)	missense	probably damaging	1.00
R5735:Pramel22	UTSW	4	143,381,205 (GRCm39)	missense	probably damaging	1.00
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

PCR Primer
(F):5'- GAGGAATTCTTTCAGATTGCCG -3'
(R):5'- CTGAACTCTCTGTCATGAATGGC -3'

Sequencing Primer
(F):5'- CACCAATACTGAGGGAATC -3'
(R):5'- GGCAGACTTAATGAATCTGACAC -3'

Posted On

2016-12-20